Incidental Mutation 'IGL02899:Tmco5b'
ID363524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco5b
Ensembl Gene ENSMUSG00000041255
Gene Nametransmembrane and coiled-coil domains 5B
Synonyms4930563P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02899
Quality Score
Status
Chromosome2
Chromosomal Location113285732-113297190 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113296920 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 279 (M279V)
Ref Sequence ENSEMBL: ENSMUSP00000042247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040856]
Predicted Effect probably benign
Transcript: ENSMUST00000040856
AA Change: M279V

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: M279V

DomainStartEndE-ValueType
Pfam:TMCO5 28 306 5.4e-121 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C A 9: 103,277,574 V173L probably damaging Het
Arfgef2 A G 2: 166,869,051 probably benign Het
Btbd7 A G 12: 102,837,662 L373P probably damaging Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Elmod2 A G 8: 83,316,933 Y202H probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Kpnb1 T C 11: 97,175,786 Y321C probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Maf1 T A 15: 76,353,020 probably benign Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tgfb3 G A 12: 86,069,776 R163C probably damaging Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in Tmco5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Tmco5b APN 2 113296849 missense probably damaging 0.99
IGL01160:Tmco5b APN 2 113287798 splice site probably benign
IGL01501:Tmco5b APN 2 113291381 missense probably null 0.81
IGL02244:Tmco5b APN 2 113288274 missense probably damaging 1.00
R1495:Tmco5b UTSW 2 113290791 missense possibly damaging 0.93
R4821:Tmco5b UTSW 2 113289757 missense probably benign 0.00
R4972:Tmco5b UTSW 2 113296993 missense probably damaging 0.99
R7076:Tmco5b UTSW 2 113287421 missense probably damaging 1.00
R7200:Tmco5b UTSW 2 113291377 missense probably damaging 1.00
R7750:Tmco5b UTSW 2 113288264 missense probably damaging 0.99
Posted On2015-12-18