Incidental Mutation 'IGL00756:Tmem171'
ID14492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem171
Ensembl Gene ENSMUSG00000052485
Gene Nametransmembrane protein 171
SynonymsLOC380863
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL00756
Quality Score
Status
Chromosome13
Chromosomal Location98686235-98694834 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 98686426 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 288 (R288S)
Ref Sequence ENSEMBL: ENSMUSP00000070369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064347]
Predicted Effect probably benign
Transcript: ENSMUST00000064347
AA Change: R288S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070369
Gene: ENSMUSG00000052485
AA Change: R288S

DomainStartEndE-ValueType
Pfam:TMEM171 2 317 3e-168 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,264,447 probably benign Het
4932438A13Rik C A 3: 36,908,218 H489Q probably damaging Het
Acvr2a A T 2: 48,873,052 probably benign Het
Col19a1 T A 1: 24,322,942 K583N possibly damaging Het
Crot C A 5: 8,976,072 R305L probably damaging Het
Ctnnal1 A T 4: 56,829,544 N428K possibly damaging Het
Dab1 A G 4: 104,727,878 K405R probably benign Het
Dnah6 A C 6: 73,123,771 F2016L possibly damaging Het
Fgfrl1 A G 5: 108,705,953 K309E possibly damaging Het
Gucy1b2 T C 14: 62,403,209 H749R probably benign Het
Mki67 A T 7: 135,698,731 S1525T possibly damaging Het
Mob1a T A 6: 83,332,486 Y72N probably damaging Het
Ntrk1 C T 3: 87,783,697 E387K probably benign Het
Qser1 A G 2: 104,787,671 M932T possibly damaging Het
Rarb C A 14: 16,443,791 E166* probably null Het
Thnsl1 T A 2: 21,212,612 H392Q probably benign Het
Zc4h2 T A X: 95,642,201 R186* probably null Het
Other mutations in Tmem171
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Tmem171 APN 13 98686518 critical splice acceptor site probably null
IGL01584:Tmem171 APN 13 98692175 unclassified probably null
R0366:Tmem171 UTSW 13 98692228 missense possibly damaging 0.92
R0380:Tmem171 UTSW 13 98692027 missense possibly damaging 0.75
R1903:Tmem171 UTSW 13 98686416 nonsense probably null
R2023:Tmem171 UTSW 13 98692225 missense probably damaging 0.97
R2102:Tmem171 UTSW 13 98692343 missense probably damaging 1.00
R4090:Tmem171 UTSW 13 98692588 missense probably damaging 0.99
R4941:Tmem171 UTSW 13 98692295 missense possibly damaging 0.92
R5341:Tmem171 UTSW 13 98688448 missense probably damaging 1.00
R5654:Tmem171 UTSW 13 98692066 missense probably benign 0.12
R5741:Tmem171 UTSW 13 98692051 missense probably benign
R5761:Tmem171 UTSW 13 98692511 missense probably damaging 1.00
R6725:Tmem171 UTSW 13 98692170 nonsense probably null
R6947:Tmem171 UTSW 13 98688442 missense possibly damaging 0.92
R6981:Tmem171 UTSW 13 98692468 missense possibly damaging 0.92
Posted On2012-12-06