Guf1 - SNV Details



 Gene Information 
Gene Name Guf1
Old Gene Names for Guf1 Aa407526
Gene Description GUF1 GTPase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2140726]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; translation; GTPase activity; small GTPase mediated signal transduction; mitochondrial inner membrane; GTP binding; biological_process
Homolog in other species GUF1
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN
LOW/MEDIAN
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029208
Chromosome 5
Coordinate 69,561,158     (Assembly: GRCm38)    
Ref Base C
Codon Change aaC/aaA
Var Base A
Zygosity Heterozygous
Read Depth 43
Allele Frequency
C:R0.51
A:V0.49
Amino Acid Position 213
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL01739
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000084480:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000084480 Superfamily 45
251 Description available Search pathways
Elongation factor 4 EF-4 IPR006297 ENSMUSP00000084480 TIGRfam 49
647 Description available Search pathways
Small GTPase superfamily Small_GTPase IPR001806 ENSMUSP00000084480 Pfam 97
225 Description available Search pathways
Elongation factor, GTP-binding domain EF_GTP-bd_dom IPR000795 ENSMUSP00000084480 Pfam 49
226 Description available Search pathways
Small GTP-binding protein domain Small_GTP-bd_dom IPR005225 ENSMUSP00000084480 TIGRfam 52
220 Description available Search pathways

 Availability Details 
Availability Cryopreserved