Trip11 - SNV Details



 Human Rare Diseases 
Achondrogenesis type 1A

 Gene Information 
Gene Name Trip11
Old Gene Names for Trip11 2610511g22rik , 3110031g15rik , 6030460n08rik , Ai450776
Gene Description thyroid hormone receptor interactor 11 [Source:MGI Symbol;Acc:MGI:1924393]
MGI phenotype Mice homozygous for a null allele exhibit neonatal lethality associated with small size, lung hypoplasia, omphalocele, and ventricular septal defects.
Uniprot Name
CCDS Name
Gene GO
intracellular membrane-bounded organelle; protein binding; nucleus; Golgi apparatus; protein targeting to Golgi
Homolog in other species TRIP11
Omim http://omim.org/entry/604505
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
HIGH
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021188
Chromosome 12
Coordinate 101,898,911     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Gtc
Var Base C
Zygosity Heterozygous
Read Depth 36
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Position 169
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01476
Median Base Quality 39.5
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.06
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved