Slc44a4 - SNV Details



 Gene Information 
Gene Name Slc44a4
Old Gene Names for Slc44a4 2210409b01rik
Gene Description solute carrier family 44, member 4 [Source:MGI Symbol;Acc:MGI:1917379]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cellular_component; biological_process; molecular_function
Homolog in other species SLC44A4
Omim http://omim.org/entry/606107
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN M1, BLASTOCYSTS, GI GROUP, EPITH GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000007034
Chromosome 17
Coordinate 34,929,018     (Assembly: GRCm38)    
Ref Base T
Codon Change Ttc/Ctc
Var Base C
Zygosity Heterozygous
Read Depth 128
Allele Frequency
T:R0.48
C:V0.51
Amino Acid Position 653
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL01606
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000007249:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Choline transporter-like Choline_transptr-like IPR007603 ENSMUSP00000007249 Pfam 310
676 Description available Search pathways

 Availability Details 
Availability Cryopreserved