Incidental Mutation 'R7299:Ttc7'
ID 566897
Institutional Source Beutler Lab
Gene Symbol Ttc7
Ensembl Gene ENSMUSG00000036918
Gene Name tetratricopeptide repeat domain 7
Synonyms fsn, 1700007L07Rik, 1110035E02Rik, hea
MMRRC Submission 045403-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R7299 (G1)
Quality Score 212.009
Status Validated
Chromosome 17
Chromosomal Location 87590328-87689197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87653970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 549 (I549T)
Ref Sequence ENSEMBL: ENSMUSP00000040771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041110] [ENSMUST00000125875] [ENSMUST00000144204] [ENSMUST00000154255]
AlphaFold Q8BGB2
Predicted Effect possibly damaging
Transcript: ENSMUST00000041110
AA Change: I549T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: I549T

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 probably damaging
Transcript: ENSMUST00000125875
AA Change: I549T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: I549T

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: ENSMUST00000144204
SMART Domains Protein: ENSMUSP00000122563
Gene: ENSMUSG00000036918

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
low complexity region 68 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154255
Meta Mutation Damage Score 0.8020 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 99% (71/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,095 (GRCm39) K83N unknown Het
Abca13 A T 11: 9,244,649 (GRCm39) N2171Y probably damaging Het
Abcc8 G A 7: 45,754,922 (GRCm39) T1532I possibly damaging Het
Abtb2 A T 2: 103,532,769 (GRCm39) probably null Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Agk A T 6: 40,306,451 (GRCm39) T7S possibly damaging Het
Akap9 C A 5: 4,082,696 (GRCm39) T1940K probably damaging Het
Ccdc8 A G 7: 16,729,956 (GRCm39) T482A unknown Het
Cd2ap G A 17: 43,140,904 (GRCm39) R212* probably null Het
Cenpt G A 8: 106,576,536 (GRCm39) Q45* probably null Het
Cnga1 T C 5: 72,762,775 (GRCm39) I246M probably benign Het
Cnot7 A G 8: 40,960,586 (GRCm39) I74T probably damaging Het
Cog6 T C 3: 52,909,928 (GRCm39) S275G probably benign Het
Csmd2 C A 4: 128,422,055 (GRCm39) D2797E Het
Ddx24 A G 12: 103,385,709 (GRCm39) M298T possibly damaging Het
Eif2b3 T A 4: 116,910,019 (GRCm39) S185T probably benign Het
Ergic2 T A 6: 148,089,610 (GRCm39) Y249F probably damaging Het
Exoc1 T A 5: 76,690,006 (GRCm39) M182K probably damaging Het
Fhdc1 T C 3: 84,351,847 (GRCm39) E1126G probably damaging Het
Gabrr2 T A 4: 33,095,284 (GRCm39) M391K probably benign Het
Gap43 T C 16: 42,112,615 (GRCm39) K49E probably damaging Het
Gata4 T A 14: 63,441,191 (GRCm39) T276S probably damaging Het
Gca C T 2: 62,520,320 (GRCm39) P160L probably benign Het
Ghdc C T 11: 100,658,942 (GRCm39) V397I possibly damaging Het
Gm3409 T A 5: 146,476,357 (GRCm39) D169E probably benign Het
Gtf3c3 G A 1: 54,456,867 (GRCm39) P511L probably benign Het
Hal T C 10: 93,328,423 (GRCm39) V233A probably benign Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Itgb8 T C 12: 119,166,196 (GRCm39) N112D probably benign Het
Klhl38 G A 15: 58,186,376 (GRCm39) R118W probably damaging Het
Krtap26-1 T C 16: 88,444,132 (GRCm39) Y163C possibly damaging Het
Kyat1 T C 2: 30,082,007 (GRCm39) D44G probably benign Het
Mob1a G A 6: 83,315,431 (GRCm39) probably null Het
Mst1r G T 9: 107,791,989 (GRCm39) A842S possibly damaging Het
Nhsl1 A G 10: 18,403,419 (GRCm39) probably null Het
Nos1 A T 5: 118,005,970 (GRCm39) D230V possibly damaging Het
Nppb T C 4: 148,070,780 (GRCm39) S52P probably benign Het
Odad2 T C 18: 7,222,635 (GRCm39) K545E probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or1s2 G A 19: 13,758,688 (GRCm39) W235* probably null Het
Pcdha3 G A 18: 37,079,977 (GRCm39) E240K possibly damaging Het
Podxl G T 6: 31,501,371 (GRCm39) P395T probably damaging Het
Prr5l T A 2: 101,547,631 (GRCm39) D298V probably damaging Het
Ptpro G A 6: 137,418,142 (GRCm39) probably null Het
Rad9b A G 5: 122,490,677 (GRCm39) V13A possibly damaging Het
Ralgps1 T C 2: 33,047,885 (GRCm39) K365R probably benign Het
Reep1 A T 6: 71,738,373 (GRCm39) I44L probably benign Het
Ripor2 T C 13: 24,908,984 (GRCm39) I1034T possibly damaging Het
Rtn4ip1 T C 10: 43,812,016 (GRCm39) Y338H probably damaging Het
Shisa5 G T 9: 108,883,952 (GRCm39) probably benign Het
Snx24 G T 18: 53,473,244 (GRCm39) V63F probably damaging Het
Svep1 G A 4: 58,046,587 (GRCm39) Q3515* probably null Het
Tfap2a T C 13: 40,874,784 (GRCm39) K276E probably damaging Het
Tmem158 C A 9: 123,089,366 (GRCm39) S82I probably damaging Het
Tmem263 T A 10: 84,950,261 (GRCm39) probably null Het
Tmtc3 G T 10: 100,283,336 (GRCm39) H740N not run Het
Tnrc6a A C 7: 122,770,136 (GRCm39) N642T probably benign Het
Top3a A T 11: 60,638,974 (GRCm39) F559I probably damaging Het
Trak1 A G 9: 121,280,929 (GRCm39) probably null Het
Trpc4 T C 3: 54,225,048 (GRCm39) I799T possibly damaging Het
Tysnd1 C A 10: 61,532,328 (GRCm39) P327T possibly damaging Het
Ulk4 T A 9: 120,974,125 (GRCm39) D969V probably benign Het
Vcan T A 13: 89,853,385 (GRCm39) Y525F probably benign Het
Vmn1r204 G A 13: 22,740,975 (GRCm39) S202N probably damaging Het
Vmn2r107 A G 17: 20,565,878 (GRCm39) I64M probably benign Het
Wrn A G 8: 33,782,746 (GRCm39) F728S probably damaging Het
Zfp280b C G 10: 75,874,537 (GRCm39) Q139E probably damaging Het
Zfp322a C A 13: 23,541,313 (GRCm39) G143V probably damaging Het
Zfp322a C T 13: 23,541,314 (GRCm39) G143S probably benign Het
Zfp418 T A 7: 7,185,827 (GRCm39) C597S possibly damaging Het
Zfp568 A G 7: 29,716,669 (GRCm39) T190A probably benign Het
Zfyve26 A T 12: 79,329,758 (GRCm39) V476D probably benign 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
R3878:Ttc7 UTSW 17 87,678,166 (GRCm39) intron 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
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 PCR Primer
(F):5'- ACCCCATTAGCCAAGCTCTG -3'
(R):5'- TGTCAGGCTGAGACGTACACAG -3'

Sequencing Primer
(F):5'- CCATTAGCCAAGCTCTGGGAAG -3'
(R):5'- TGCAGTGACCAAGCCAG -3'
Posted On 2019-06-26