Incidental Mutation 'IGL00980:Ttc7'
ID 29361
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00980
Quality Score
Status
Chromosome 17
Chromosomal Location 87590328-87689197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87628874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 271 (T271P)
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: T271P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: T271P

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 possibly damaging
Transcript: ENSMUST00000125875
AA Change: T271P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: T271P

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 noncoding transcript
Transcript: ENSMUST00000127970
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 noncoding transcript
Transcript: ENSMUST00000153014
Predicted Effect probably benign
Transcript: ENSMUST00000154255
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,293,977 (GRCm39) Y283* probably null Het
Bend3 C A 10: 43,387,562 (GRCm39) Q652K probably damaging Het
Bltp1 C T 3: 37,054,190 (GRCm39) T3103I probably damaging Het
Ccdc136 G A 6: 29,420,257 (GRCm39) S992N probably damaging Het
Cct6a T C 5: 129,868,856 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,398 (GRCm39) I203F probably benign Het
Cd8b1 C A 6: 71,309,463 (GRCm39) C182* probably null Het
Cmtr1 T A 17: 29,910,258 (GRCm39) D454E probably benign Het
Cyp2b13 T A 7: 25,781,152 (GRCm39) F188Y probably benign Het
Dppa2 T C 16: 48,132,049 (GRCm39) S49P possibly damaging Het
Fhl5 G T 4: 25,207,181 (GRCm39) L196I possibly damaging Het
Gimap4 T A 6: 48,667,872 (GRCm39) V81D probably damaging Het
Gm4884 T G 7: 40,693,150 (GRCm39) M373R probably damaging Het
Gnrhr C T 5: 86,345,162 (GRCm39) probably null Het
H2-Oa T G 17: 34,313,537 (GRCm39) L196R probably damaging Het
Icosl T C 10: 77,907,805 (GRCm39) S122P probably damaging Het
Itpr3 A G 17: 27,329,930 (GRCm39) T1575A probably benign Het
Krt80 T C 15: 101,247,879 (GRCm39) K373E possibly damaging Het
Lamp1 G A 8: 13,221,195 (GRCm39) probably benign Het
Npvf T C 6: 50,627,865 (GRCm39) K185E probably damaging Het
Nuf2 A G 1: 169,338,003 (GRCm39) M258T probably damaging Het
Or6b2 T C 1: 92,407,402 (GRCm39) probably null Het
Or8b36 G A 9: 37,937,107 (GRCm39) V2I probably benign Het
Smurf2 A C 11: 106,726,921 (GRCm39) I469S probably damaging Het
Soat1 T A 1: 156,268,911 (GRCm39) H180L probably benign Het
Spink5 G T 18: 44,140,777 (GRCm39) D659Y probably damaging Het
Sprtn T C 8: 125,627,037 (GRCm39) M139T probably damaging Het
Tas2r140 T C 6: 40,468,352 (GRCm39) S61P possibly damaging Het
Tec G A 5: 72,944,141 (GRCm39) L89F probably damaging Het
Trav21-dv12 A T 14: 54,114,107 (GRCm39) M76L probably benign Het
Tyk2 G A 9: 21,031,884 (GRCm39) T397I probably benign Het
Ugt1a6b T A 1: 88,035,327 (GRCm39) Y222N possibly damaging Het
Vmn2r2 A T 3: 64,024,601 (GRCm39) M660K probably benign Het
Vmn2r52 T A 7: 9,905,017 (GRCm39) Y274F probably damaging Het
Wscd1 A C 11: 71,679,768 (GRCm39) N547T possibly damaging Het
Zfp335 C A 2: 164,744,594 (GRCm39) E394* probably null Het
Other mutations in Ttc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Ttc7 APN 17 87,670,992 (GRCm39) missense possibly damaging 0.66
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
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
Posted On 2013-04-17