Incidental Mutation 'IGL02249:Tmem178'
ID286309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem178
Ensembl Gene ENSMUSG00000024245
Gene Nametransmembrane protein 178
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02249
Quality Score
Status
Chromosome17
Chromosomal Location80944632-81001816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80989806 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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