Incidental Mutation 'IGL01370:Tcp11l1'
ID 76122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcp11l1
Ensembl Gene ENSMUSG00000027175
Gene Name t-complex 11 like 1
Synonyms C130096D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01370
Quality Score
Status
Chromosome 2
Chromosomal Location 104497587-104542525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104536831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 11 (D11E)
Ref Sequence ENSEMBL: ENSMUSP00000106747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028597] [ENSMUST00000111118]
AlphaFold Q8BTG3
Predicted Effect probably benign
Transcript: ENSMUST00000028597
AA Change: D11E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: D11E

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 78 502 3.9e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111118
AA Change: D11E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: D11E

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: ENSMUST00000132600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137428
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A T 12: 88,423,503 (GRCm39) probably benign Het
Add1 C T 5: 34,787,859 (GRCm39) T210I probably damaging Het
Ajm1 T C 2: 25,468,969 (GRCm39) E314G possibly damaging Het
Alpk2 A T 18: 65,483,662 (GRCm39) D115E possibly damaging Het
Ankrd36 C T 11: 5,534,019 (GRCm39) T290I probably benign Het
Bltp1 T A 3: 37,001,904 (GRCm39) I1283N probably benign Het
Castor2 T C 5: 134,167,111 (GRCm39) V323A probably benign Het
Ccnt2 T C 1: 127,731,250 (GRCm39) F709S possibly damaging Het
Erc1 T C 6: 119,801,426 (GRCm39) E197G probably damaging Het
Ftsj3 G T 11: 106,143,145 (GRCm39) R390S possibly damaging Het
Gabrb3 G A 7: 57,466,226 (GRCm39) A347T probably benign Het
Gde1 A G 7: 118,288,383 (GRCm39) probably benign Het
Jhy A T 9: 40,828,438 (GRCm39) N489K probably benign Het
Kiss1r A G 10: 79,754,658 (GRCm39) T51A probably benign Het
Lama5 T C 2: 179,839,193 (GRCm39) S772G possibly damaging Het
Lamb2 G T 9: 108,364,932 (GRCm39) probably null Het
Loxl3 A G 6: 83,026,468 (GRCm39) T475A probably damaging Het
Lpl A T 8: 69,340,220 (GRCm39) S72C possibly damaging Het
Lrrc74a A T 12: 86,801,204 (GRCm39) I352F probably damaging Het
Mcoln2 T C 3: 145,887,585 (GRCm39) I334T possibly damaging Het
Mettl8 T G 2: 70,812,383 (GRCm39) D49A probably damaging Het
Ms4a3 T A 19: 11,610,245 (GRCm39) T106S probably benign Het
Obscn T A 11: 58,886,389 (GRCm39) probably null Het
Or14j2 T C 17: 37,885,412 (GRCm39) I301V probably null Het
Or1o11 C A 17: 37,756,605 (GRCm39) H64Q probably benign Het
Or1p1c G A 11: 74,160,325 (GRCm39) V37I probably benign Het
Or4n4 G T 14: 50,519,689 (GRCm39) T7K probably damaging Het
Or5b107 A T 19: 13,142,663 (GRCm39) Y95F possibly damaging Het
Pcnx2 T C 8: 126,528,222 (GRCm39) K1333E probably damaging Het
Pias3 T C 3: 96,610,891 (GRCm39) F364L probably damaging Het
Piezo2 T A 18: 63,155,531 (GRCm39) I2438F probably damaging Het
Plcb3 A C 19: 6,940,192 (GRCm39) V465G probably damaging Het
Plekho2 G T 9: 65,465,912 (GRCm39) H159N probably damaging Het
Polr2e A G 10: 79,872,681 (GRCm39) probably benign Het
Rab6b G T 9: 103,041,094 (GRCm39) V163L probably benign Het
Rabep1 A G 11: 70,816,607 (GRCm39) M597V probably benign Het
Rbm15 A G 3: 107,238,326 (GRCm39) S691P probably damaging Het
Sec24b G A 3: 129,801,253 (GRCm39) probably benign Het
Slc6a18 A G 13: 73,815,150 (GRCm39) I386T probably damaging Het
Stxbp3 A C 3: 108,704,741 (GRCm39) Y497* probably null Het
Styk1 T C 6: 131,278,615 (GRCm39) K353R probably damaging Het
Tbc1d10b A T 7: 126,798,253 (GRCm39) H629Q probably damaging Het
Tbc1d5 T A 17: 51,273,755 (GRCm39) I119F probably benign Het
Tfap2d A G 1: 19,175,009 (GRCm39) Y154C probably damaging Het
Tgm5 T C 2: 120,884,018 (GRCm39) N325S probably benign Het
Thbs2 T C 17: 14,910,327 (GRCm39) K91E possibly damaging Het
Vmn2r26 T A 6: 124,038,715 (GRCm39) F763L probably benign Het
Washc4 A G 10: 83,394,694 (GRCm39) E308G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Tcp11l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Tcp11l1 APN 2 104,528,914 (GRCm39) missense possibly damaging 0.61
IGL02792:Tcp11l1 APN 2 104,512,165 (GRCm39) missense probably benign 0.19
R0376:Tcp11l1 UTSW 2 104,527,850 (GRCm39) splice site probably benign
R0683:Tcp11l1 UTSW 2 104,512,237 (GRCm39) missense possibly damaging 0.90
R0828:Tcp11l1 UTSW 2 104,530,181 (GRCm39) splice site probably benign
R2091:Tcp11l1 UTSW 2 104,514,484 (GRCm39) missense possibly damaging 0.77
R2095:Tcp11l1 UTSW 2 104,512,185 (GRCm39) missense probably damaging 1.00
R3750:Tcp11l1 UTSW 2 104,528,887 (GRCm39) missense probably damaging 1.00
R4456:Tcp11l1 UTSW 2 104,514,567 (GRCm39) missense probably damaging 1.00
R4926:Tcp11l1 UTSW 2 104,512,130 (GRCm39) missense probably benign 0.01
R5184:Tcp11l1 UTSW 2 104,530,289 (GRCm39) missense probably damaging 1.00
R5461:Tcp11l1 UTSW 2 104,518,856 (GRCm39) missense probably benign 0.00
R6979:Tcp11l1 UTSW 2 104,536,784 (GRCm39) missense probably benign
R7387:Tcp11l1 UTSW 2 104,530,275 (GRCm39) missense possibly damaging 0.92
R7443:Tcp11l1 UTSW 2 104,514,480 (GRCm39) missense probably benign 0.01
R7872:Tcp11l1 UTSW 2 104,536,837 (GRCm39) missense probably benign 0.25
R7940:Tcp11l1 UTSW 2 104,528,993 (GRCm39) missense probably damaging 1.00
R8399:Tcp11l1 UTSW 2 104,515,720 (GRCm39) missense probably benign 0.09
R8431:Tcp11l1 UTSW 2 104,530,314 (GRCm39) missense probably damaging 0.96
R8445:Tcp11l1 UTSW 2 104,512,278 (GRCm39) missense probably benign 0.02
R8810:Tcp11l1 UTSW 2 104,518,763 (GRCm39) missense probably benign 0.00
R8988:Tcp11l1 UTSW 2 104,536,853 (GRCm39) missense probably damaging 1.00
R9057:Tcp11l1 UTSW 2 104,528,026 (GRCm39) missense probably damaging 1.00
R9109:Tcp11l1 UTSW 2 104,528,897 (GRCm39) missense possibly damaging 0.67
R9298:Tcp11l1 UTSW 2 104,528,897 (GRCm39) missense possibly damaging 0.67
V8831:Tcp11l1 UTSW 2 104,515,829 (GRCm39) missense probably benign
Posted On 2013-10-07