Incidental Mutation 'IGL00538:Tmem156'
ID332559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem156
Ensembl Gene ENSMUSG00000037913
Gene Nametransmembrane protein 156
SynonymsLOC243025
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00538
Quality Score
Status
Chromosome5
Chromosomal Location65054346-65092132 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65073840 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 165 (Y165C)
Ref Sequence ENSEMBL: ENSMUSP00000148300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043352] [ENSMUST00000212080] [ENSMUST00000212194] [ENSMUST00000212640]
Predicted Effect probably damaging
Transcript: ENSMUST00000043352
AA Change: Y217C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044102
Gene: ENSMUSG00000037913
AA Change: Y217C

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:TMEM156 39 264 1.2e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203664
Predicted Effect probably damaging
Transcript: ENSMUST00000212080
AA Change: Y229C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212194
AA Change: Y194C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212640
AA Change: Y165C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 T A 5: 77,004,056 M1K probably null Het
Asf1a T C 10: 53,606,131 L13P probably damaging Het
Atg2b T G 12: 105,644,916 H1252P probably benign Het
Cacna2d1 C T 5: 16,246,785 R216* probably null Het
Cdc42ep3 G A 17: 79,335,455 A12V possibly damaging Het
Cntn3 G A 6: 102,420,262 Q117* probably null Het
Cyp3a41b G A 5: 145,578,200 probably benign Het
Dhx36 T C 3: 62,501,045 E124G probably benign Het
Galnt7 T A 8: 57,552,522 T226S possibly damaging Het
H2al3 T A X: 9,850,005 probably benign Het
Ighv1-7 C A 12: 114,538,761 E29* probably null Het
Iqcb1 G T 16: 36,858,586 V421F probably benign Het
Lrrc8c G A 5: 105,607,210 V284I probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Samd9l A T 6: 3,376,779 Y161N probably damaging Het
Slc14a1 A T 18: 78,104,073 F313Y probably damaging Het
Taco1 T A 11: 106,071,979 I164N probably damaging Het
Tenm3 G T 8: 48,236,025 H2176N probably damaging Het
Trpc7 A T 13: 56,773,809 N731K possibly damaging Het
Ubox5 T C 2: 130,599,888 N293S probably damaging Het
Other mutations in Tmem156
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Tmem156 APN 5 65079984 missense probably damaging 0.99
IGL01330:Tmem156 APN 5 65080182 missense probably benign 0.17
IGL03336:Tmem156 APN 5 65075764 missense probably benign 0.01
IGL03383:Tmem156 APN 5 65075697 missense probably damaging 0.98
R0526:Tmem156 UTSW 5 65075818 missense probably benign 0.02
R2006:Tmem156 UTSW 5 65079951 missense probably damaging 1.00
R4721:Tmem156 UTSW 5 65091527 missense probably benign 0.10
R4773:Tmem156 UTSW 5 65080159 missense probably damaging 1.00
R4810:Tmem156 UTSW 5 65091447 intron probably benign
R4910:Tmem156 UTSW 5 65091462 intron probably benign
R5148:Tmem156 UTSW 5 65073768 missense probably benign 0.00
R5510:Tmem156 UTSW 5 65075574 missense probably benign 0.02
R5809:Tmem156 UTSW 5 65075607 missense possibly damaging 0.55
R6033:Tmem156 UTSW 5 65075621 missense probably benign 0.35
R6033:Tmem156 UTSW 5 65075621 missense probably benign 0.35
R7731:Tmem156 UTSW 5 65075562 critical splice donor site probably null
R7772:Tmem156 UTSW 5 65080174 missense probably damaging 1.00
R7788:Tmem156 UTSW 5 65075569 missense possibly damaging 0.47
R7979:Tmem156 UTSW 5 65080009 missense possibly damaging 0.47
R8017:Tmem156 UTSW 5 65073861 missense probably damaging 1.00
R8132:Tmem156 UTSW 5 65075755 missense probably benign 0.00
R8249:Tmem156 UTSW 5 65075626 nonsense probably null
RF020:Tmem156 UTSW 5 65091547 missense probably benign 0.34
Posted On2015-08-05