Incidental Mutation 'IGL02249:Tmem178'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem178
Ensembl Gene ENSMUSG00000024245
Gene Nametransmembrane protein 178
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02249
Quality Score
Chromosomal Location80944632-81001816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80989806 bp
Amino Acid Change Threonine to Alanine at position 206 (T206A)
Ref Sequence ENSEMBL: ENSMUSP00000025092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025092]
Predicted Effect probably damaging
Transcript: ENSMUST00000025092
AA Change: T206A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025092
Gene: ENSMUSG00000024245
AA Change: T206A

Pfam:Claudin_2 16 277 1.1e-21 PFAM
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,185,272 K23* probably null Het
Abca1 A T 4: 53,068,739 L1333* probably null Het
Adcy6 C A 15: 98,599,914 M452I probably damaging Het
Adsl G A 15: 80,960,475 R173H probably benign Het
Ank3 A G 10: 69,882,370 T484A probably damaging Het
Apol10a A G 15: 77,488,509 D115G probably damaging Het
Bard1 A G 1: 71,053,669 S529P probably damaging Het
C2 A G 17: 34,864,508 probably benign Het
Cftr T A 6: 18,277,871 I956N possibly damaging Het
Cwc15 A G 9: 14,503,681 T110A probably benign Het
Dsg4 A T 18: 20,461,304 I497F possibly damaging Het
Gadd45b A G 10: 80,931,133 D69G possibly damaging Het
Glb1l3 A T 9: 26,831,268 S307R possibly damaging Het
Greb1l G A 18: 10,532,961 G843R probably damaging Het
H2-M11 A T 17: 36,547,937 Y123F probably benign Het
Hal G A 10: 93,497,538 A323T probably damaging Het
Il4ra T C 7: 125,567,224 F47L probably benign Het
Klra10 T A 6: 130,279,404 N96Y probably benign Het
Mki67 T A 7: 135,700,522 M928L possibly damaging Het
Myh15 T A 16: 49,110,484 V607D probably damaging Het
Ndufaf2 A G 13: 108,081,391 W74R probably damaging Het
Noc4l C A 5: 110,653,215 probably benign Het
Olfr623 T A 7: 103,660,366 I295F probably damaging Het
Papss1 T A 3: 131,602,011 W274R probably damaging Het
Pax3 C T 1: 78,195,325 V83I probably damaging Het
Prmt5 C T 14: 54,509,865 R485H probably damaging Het
Ptprq A G 10: 107,582,359 Y1719H probably damaging Het
Ranbp2 A T 10: 58,480,078 I2207F possibly damaging Het
Rock2 T A 12: 16,971,041 probably benign Het
Sema3c G A 5: 17,662,963 R124H probably damaging Het
Serpina1e G A 12: 103,951,134 T92M probably benign Het
Sgip1 T C 4: 102,911,470 L83P probably benign Het
Tm9sf2 C T 14: 122,123,750 S68L probably damaging Het
Tmem207 A T 16: 26,517,867 Y46N possibly damaging Het
Tmem57 T C 4: 134,828,312 I283M possibly damaging Het
Tyk2 A G 9: 21,120,407 L429P probably damaging Het
Other mutations in Tmem178
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0603:Tmem178 UTSW 17 80945059 missense possibly damaging 0.68
R1155:Tmem178 UTSW 17 81001000 missense possibly damaging 0.46
R4169:Tmem178 UTSW 17 80944803 missense possibly damaging 0.85
R4503:Tmem178 UTSW 17 80986264 missense probably benign 0.03
R4863:Tmem178 UTSW 17 80944945 missense probably benign 0.00
R5919:Tmem178 UTSW 17 80989758 missense probably damaging 0.99
R7442:Tmem178 UTSW 17 80944756 missense probably damaging 1.00
R7464:Tmem178 UTSW 17 80944902 missense probably benign
X0003:Tmem178 UTSW 17 80986188 missense probably benign 0.16
Z1177:Tmem178 UTSW 17 80945074 missense probably benign
Posted On2015-04-16