Incidental Mutation 'IGL01999:Tcp11l1'
ID182133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcp11l1
Ensembl Gene ENSMUSG00000027175
Gene Namet-complex 11 like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL01999
Quality Score
Status
Chromosome2
Chromosomal Location104657288-104712169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104698569 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 128 (D128G)
Ref Sequence ENSEMBL: ENSMUSP00000106747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028597] [ENSMUST00000111118]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028597
AA Change: D128G

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: D128G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 78 502 3.9e-105 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111118
AA Change: D128G

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: D128G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 77 505 5.2e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137428
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik C A 19: 23,592,165 L130F possibly damaging Het
Cabs1 C T 5: 87,979,928 T146I possibly damaging Het
Cfap161 C T 7: 83,791,691 V118M probably damaging Het
Chrna7 T C 7: 63,103,791 M327V probably damaging Het
Ddx18 A G 1: 121,561,728 I228T probably benign Het
Dnhd1 T A 7: 105,721,215 S4616T possibly damaging Het
Dsp T A 13: 38,181,186 M515K probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Exoc7 T C 11: 116,301,100 probably null Het
Gria2 G A 3: 80,732,091 R205W probably damaging Het
Hacd2 T C 16: 35,048,713 probably benign Het
Helz G T 11: 107,602,928 probably benign Het
Hgfac A G 5: 35,044,811 N352S probably benign Het
Mfsd11 T A 11: 116,861,585 F135I probably damaging Het
Mtmr10 A G 7: 64,337,712 N667D probably benign Het
Mtmr9 A C 14: 63,542,454 F62C probably damaging Het
Nelfcd T C 2: 174,423,515 probably benign Het
Nfasc A G 1: 132,605,247 probably benign Het
Npnt C T 3: 132,908,399 R150Q probably damaging Het
Olfr1462 G A 19: 13,191,560 A298T probably damaging Het
Olfr476 C T 7: 107,967,468 R24C probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pcdhb2 C T 18: 37,296,837 A621V probably damaging Het
Pkd1l1 C A 11: 8,836,291 W1921L probably benign Het
Plcb1 G A 2: 135,346,318 R777Q probably damaging Het
Plch1 G A 3: 63,753,307 P297L probably damaging Het
Ppp2r2b T C 18: 42,645,723 probably benign Het
Ppp6r2 A G 15: 89,269,952 D372G probably benign Het
Rtn4r A G 16: 18,151,457 R250G possibly damaging Het
Sec61a2 A G 2: 5,891,363 probably benign Het
Sema3g G T 14: 31,217,965 V19L probably benign Het
Sult2a7 T C 7: 14,491,723 T113A probably benign Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Vcan A G 13: 89,684,438 L2150P probably damaging Het
Vmn1r40 A C 6: 89,714,966 N255T probably benign Het
Vmn2r68 T C 7: 85,222,231 N615D probably damaging Het
Zdhhc25 A G 15: 88,601,014 E184G probably damaging Het
Other mutations in Tcp11l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Tcp11l1 APN 2 104706486 missense probably benign
IGL02792:Tcp11l1 APN 2 104681820 missense probably benign 0.19
R0376:Tcp11l1 UTSW 2 104697505 splice site probably benign
R0683:Tcp11l1 UTSW 2 104681892 missense possibly damaging 0.90
R0828:Tcp11l1 UTSW 2 104699836 splice site probably benign
R2091:Tcp11l1 UTSW 2 104684139 missense possibly damaging 0.77
R2095:Tcp11l1 UTSW 2 104681840 missense probably damaging 1.00
R3750:Tcp11l1 UTSW 2 104698542 missense probably damaging 1.00
R4456:Tcp11l1 UTSW 2 104684222 missense probably damaging 1.00
R4926:Tcp11l1 UTSW 2 104681785 missense probably benign 0.01
R5184:Tcp11l1 UTSW 2 104699944 missense probably damaging 1.00
R5461:Tcp11l1 UTSW 2 104688511 missense probably benign 0.00
R6979:Tcp11l1 UTSW 2 104706439 missense probably benign
R7387:Tcp11l1 UTSW 2 104699930 missense possibly damaging 0.92
R7443:Tcp11l1 UTSW 2 104684135 missense probably benign 0.01
R7872:Tcp11l1 UTSW 2 104706492 missense probably benign 0.25
R7955:Tcp11l1 UTSW 2 104706492 missense probably benign 0.25
V8831:Tcp11l1 UTSW 2 104685484 missense probably benign
Posted On2014-05-07