Incidental Mutation 'R3878:Ttc7'
ID 474351
Institutional Source Beutler Lab
Gene Symbol Ttc7
Ensembl Gene ENSMUSG00000036918
Gene Name tetratricopeptide repeat domain 7
Synonyms fsn, 1700007L07Rik, 1110035E02Rik, hea
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R3878 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 87590328-87689197 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 87678166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041110] [ENSMUST00000125875] [ENSMUST00000154255]
AlphaFold Q8BGB2
Predicted Effect probably benign
Transcript: ENSMUST00000041110
SMART Domains Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
low complexity region 68 76 N/A INTRINSIC
Pfam:TPR_9 387 458 8.7e-4 PFAM
Blast:TPR 488 532 7e-20 BLAST
Blast:TPR 534 566 3e-7 BLAST
TPR 567 600 1.11e1 SMART
low complexity region 666 684 N/A INTRINSIC
TPR 711 744 7.89e1 SMART
TPR 745 778 3.87e-2 SMART
TPR 779 812 9.99e1 SMART
TPR 813 846 1.39e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125875
AA Change: D811A
SMART Domains Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: D811A

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
low complexity region 68 76 N/A INTRINSIC
Pfam:TPR_9 387 458 1.2e-3 PFAM
Blast:TPR 488 532 7e-20 BLAST
Blast:TPR 534 566 3e-7 BLAST
TPR 567 600 1.11e1 SMART
low complexity region 666 684 N/A INTRINSIC
TPR 711 744 7.89e1 SMART
TPR 745 778 3.87e-2 SMART
low complexity region 787 801 N/A INTRINSIC
low complexity region 806 818 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154255
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik C T 2: 130,247,560 (GRCm39) T32M probably benign Het
A2ml1 T C 6: 128,531,324 (GRCm39) S915G probably benign Het
Ablim1 T C 19: 57,025,642 (GRCm39) probably null Het
Atosb T G 4: 43,035,867 (GRCm39) H288P probably damaging Het
Cadm2 C T 16: 66,612,329 (GRCm39) E78K probably damaging Het
Ceacam5 C T 7: 17,484,506 (GRCm39) P416L probably damaging Het
Chsy3 T C 18: 59,542,845 (GRCm39) F661S probably damaging Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Ctif A G 18: 75,653,048 (GRCm39) I403T probably damaging Het
Dnaaf9 T C 2: 130,620,423 (GRCm39) R237G possibly damaging Het
Eprs1 T A 1: 185,148,150 (GRCm39) probably null Het
Frs2 A C 10: 116,914,815 (GRCm39) S35A probably benign Het
Gpr155 C T 2: 73,198,736 (GRCm39) W394* probably null Het
Ift140 G A 17: 25,247,918 (GRCm39) V259M probably benign Het
Igkv9-124 A T 6: 67,919,191 (GRCm39) S74T probably benign Het
Krt14 C T 11: 100,097,915 (GRCm39) V123M possibly damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Nebl T C 2: 17,398,063 (GRCm39) T457A possibly damaging Het
Nlrp4g A G 9: 124,349,362 (GRCm38) noncoding transcript Het
Nsa2 C G 13: 97,268,542 (GRCm39) G175A probably benign Het
Or8k40 T C 2: 86,584,972 (GRCm39) T37A probably benign Het
Pax1 A T 2: 147,204,228 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,262 (GRCm39) E1291G probably benign Het
Relb G A 7: 19,351,769 (GRCm39) H115Y probably damaging Het
Rnase10 A G 14: 51,246,889 (GRCm39) E52G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc14a2 C T 18: 78,202,289 (GRCm39) V614I probably benign Het
Slc20a2 T C 8: 23,058,399 (GRCm39) L645P possibly damaging Het
Smoc2 A G 17: 14,545,879 (GRCm39) D56G probably damaging Het
Szt2 A G 4: 118,247,782 (GRCm39) S789P probably damaging Het
Tenm2 A G 11: 36,030,401 (GRCm39) probably null Het
Tm9sf3 A G 19: 41,235,152 (GRCm39) V169A probably damaging Het
Trbv13-1 C T 6: 41,093,322 (GRCm39) T86I probably benign Het
Trim24 A G 6: 37,941,708 (GRCm39) D886G probably benign Het
Trim33 A G 3: 103,259,321 (GRCm39) I1003M probably damaging Het
Trim37 T C 11: 87,096,828 (GRCm39) V777A probably benign Het
Ttn T C 2: 76,596,364 (GRCm39) D11856G possibly damaging Het
Vmn1r226 A T 17: 20,908,260 (GRCm39) D164V possibly damaging Het
Vmn1r34 G A 6: 66,614,552 (GRCm39) T62I possibly damaging Het
Wapl T C 14: 34,414,104 (GRCm39) L322P probably damaging Het
Zfp62 A G 11: 49,105,960 (GRCm39) D17G probably damaging Het
Other mutations in Ttc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Ttc7 APN 17 87,670,992 (GRCm39) missense possibly damaging 0.66
IGL00980:Ttc7 APN 17 87,628,874 (GRCm39) missense possibly damaging 0.82
IGL01638:Ttc7 APN 17 87,666,540 (GRCm39) critical splice acceptor site probably null
IGL01896:Ttc7 APN 17 87,666,552 (GRCm39) missense probably damaging 0.99
IGL02643:Ttc7 APN 17 87,648,327 (GRCm39) missense possibly damaging 0.85
R0164:Ttc7 UTSW 17 87,687,323 (GRCm39) missense probably damaging 1.00
R0164:Ttc7 UTSW 17 87,687,323 (GRCm39) missense probably damaging 1.00
R0310:Ttc7 UTSW 17 87,669,292 (GRCm39) missense probably benign 0.00
R0412:Ttc7 UTSW 17 87,637,472 (GRCm39) missense probably benign 0.20
R0520:Ttc7 UTSW 17 87,666,579 (GRCm39) missense possibly damaging 0.93
R1216:Ttc7 UTSW 17 87,654,006 (GRCm39) missense possibly damaging 0.85
R1262:Ttc7 UTSW 17 87,648,364 (GRCm39) missense probably benign 0.09
R1337:Ttc7 UTSW 17 87,597,724 (GRCm39) missense probably damaging 1.00
R1537:Ttc7 UTSW 17 87,629,891 (GRCm39) missense possibly damaging 0.88
R1586:Ttc7 UTSW 17 87,669,373 (GRCm39) critical splice donor site probably null
R1678:Ttc7 UTSW 17 87,669,329 (GRCm39) missense probably damaging 1.00
R1747:Ttc7 UTSW 17 87,614,443 (GRCm39) missense possibly damaging 0.87
R2146:Ttc7 UTSW 17 87,654,135 (GRCm39) splice site probably benign
R3934:Ttc7 UTSW 17 87,678,166 (GRCm39) intron probably benign
R4007:Ttc7 UTSW 17 87,597,679 (GRCm39) missense possibly damaging 0.69
R4256:Ttc7 UTSW 17 87,628,829 (GRCm39) critical splice acceptor site probably null
R4671:Ttc7 UTSW 17 87,654,048 (GRCm39) missense probably damaging 1.00
R4676:Ttc7 UTSW 17 87,678,163 (GRCm39) intron probably benign
R4677:Ttc7 UTSW 17 87,678,163 (GRCm39) intron probably benign
R4784:Ttc7 UTSW 17 87,648,325 (GRCm39) missense probably benign 0.03
R4833:Ttc7 UTSW 17 87,641,749 (GRCm39) missense probably damaging 1.00
R4927:Ttc7 UTSW 17 87,654,133 (GRCm39) splice site probably null
R4940:Ttc7 UTSW 17 87,614,386 (GRCm39) missense probably benign 0.02
R5183:Ttc7 UTSW 17 87,600,306 (GRCm39) missense probably damaging 1.00
R5634:Ttc7 UTSW 17 87,649,515 (GRCm39) missense probably benign
R5710:Ttc7 UTSW 17 87,597,674 (GRCm39) missense probably damaging 1.00
R5867:Ttc7 UTSW 17 87,629,900 (GRCm39) missense possibly damaging 0.49
R6437:Ttc7 UTSW 17 87,637,534 (GRCm39) missense probably damaging 1.00
R6982:Ttc7 UTSW 17 87,614,437 (GRCm39) missense probably damaging 1.00
R7299:Ttc7 UTSW 17 87,653,970 (GRCm39) missense possibly damaging 0.68
R7849:Ttc7 UTSW 17 87,600,374 (GRCm39) missense probably null 0.00
R8098:Ttc7 UTSW 17 87,641,756 (GRCm39) missense probably benign 0.21
R8471:Ttc7 UTSW 17 87,601,454 (GRCm39) missense probably benign 0.24
R8889:Ttc7 UTSW 17 87,637,520 (GRCm39) missense probably damaging 1.00
R8892:Ttc7 UTSW 17 87,637,520 (GRCm39) missense probably damaging 1.00
R9225:Ttc7 UTSW 17 87,637,502 (GRCm39) missense probably damaging 1.00
R9427:Ttc7 UTSW 17 87,678,147 (GRCm39) intron probably benign
R9436:Ttc7 UTSW 17 87,600,320 (GRCm39) missense possibly damaging 0.94
Predicted Primers
Posted On 2017-04-14