Incidental Mutation 'R1155:Tmem178'
ID 101694
Institutional Source Beutler Lab
Gene Symbol Tmem178
Ensembl Gene ENSMUSG00000024245
Gene Name transmembrane protein 178
Synonyms 2810417M05Rik
MMRRC Submission 039228-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R1155 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 81252061-81309245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81308429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 275 (C275S)
Ref Sequence ENSEMBL: ENSMUSP00000025092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025092]
AlphaFold Q9CZ16
Predicted Effect possibly damaging
Transcript: ENSMUST00000025092
AA Change: C275S

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025092
Gene: ENSMUSG00000024245
AA Change: C275S

DomainStartEndE-ValueType
Pfam:Claudin_2 16 277 1.1e-21 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone mass, osteopenia, and increased osteoclast differentiation under basal and inflammatory conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,270 (GRCm39) E121G possibly damaging Het
Abtb3 A T 10: 85,465,155 (GRCm39) H665L probably damaging Het
Adgrg1 G A 8: 95,733,468 (GRCm39) V307I possibly damaging Het
Cilp A G 9: 65,176,869 (GRCm39) T42A probably benign Het
Col6a3 T A 1: 90,722,047 (GRCm39) K1493M probably null Het
Col6a6 A G 9: 105,659,289 (GRCm39) V552A possibly damaging Het
Cradd T C 10: 95,158,586 (GRCm39) T54A probably benign Het
Elfn2 A G 15: 78,557,344 (GRCm39) I401T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Hoxc6 A G 15: 102,919,279 (GRCm39) I172V probably damaging Het
Knl1 T C 2: 118,901,635 (GRCm39) L1112P possibly damaging Het
Lipo4 T A 19: 33,480,595 (GRCm39) I258F probably benign Het
Morf4l1 A G 9: 89,976,557 (GRCm39) V257A probably benign Het
Or51a8 A T 7: 102,549,819 (GRCm39) M82L probably benign Het
Rnpepl1 T A 1: 92,844,609 (GRCm39) M367K probably damaging Het
Robo2 A G 16: 73,831,996 (GRCm39) L228P probably damaging Het
Samd9l T A 6: 3,376,939 (GRCm39) E107D probably benign Het
Shc1 A G 3: 89,332,126 (GRCm39) I194V probably benign Het
Slc25a46 A G 18: 31,716,668 (GRCm39) I278T probably benign Het
Tpsg1 A T 17: 25,592,768 (GRCm39) Q40L possibly damaging Het
Trank1 A G 9: 111,196,038 (GRCm39) E1354G possibly damaging Het
Vit T C 17: 78,873,456 (GRCm39) I44T probably damaging Het
Vstm5 T C 9: 15,168,849 (GRCm39) S138P probably damaging Het
Other mutations in Tmem178
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:Tmem178 APN 17 81,297,235 (GRCm39) missense probably damaging 0.99
R0603:Tmem178 UTSW 17 81,252,488 (GRCm39) missense possibly damaging 0.68
R4169:Tmem178 UTSW 17 81,252,232 (GRCm39) missense possibly damaging 0.85
R4503:Tmem178 UTSW 17 81,293,693 (GRCm39) missense probably benign 0.03
R4863:Tmem178 UTSW 17 81,252,374 (GRCm39) missense probably benign 0.00
R5919:Tmem178 UTSW 17 81,297,187 (GRCm39) missense probably damaging 0.99
R7442:Tmem178 UTSW 17 81,252,185 (GRCm39) missense probably damaging 1.00
R7464:Tmem178 UTSW 17 81,252,331 (GRCm39) missense probably benign
R7986:Tmem178 UTSW 17 81,308,273 (GRCm39) missense possibly damaging 0.90
R9757:Tmem178 UTSW 17 81,308,289 (GRCm39) missense probably damaging 1.00
X0003:Tmem178 UTSW 17 81,293,617 (GRCm39) missense probably benign 0.16
Z1177:Tmem178 UTSW 17 81,252,503 (GRCm39) missense probably benign
Predicted Primers
Posted On 2014-01-15