Incidental Mutation 'IGL03341:Ttc7b'
ID 417235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc7b
Ensembl Gene ENSMUSG00000033530
Gene Name tetratricopeptide repeat domain 7B
Synonyms Ttc7l1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # IGL03341
Quality Score
Status
Chromosome 12
Chromosomal Location 100267029-100487085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100291994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 193 (I193V)
Ref Sequence ENSEMBL: ENSMUSP00000152637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062957] [ENSMUST00000223020] [ENSMUST00000223110]
AlphaFold E9Q6P5
Predicted Effect probably benign
Transcript: ENSMUST00000062957
AA Change: I707V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: I707V

DomainStartEndE-ValueType
TPR 397 430 8.76e-1 SMART
Blast:TPR 471 514 5e-9 BLAST
TPR 515 548 2.77e1 SMART
TPR 549 582 2.01e0 SMART
TPR 696 729 9.7e0 SMART
TPR 730 763 7.98e-4 SMART
TPR 764 797 6.1e0 SMART
TPR 798 831 2.74e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220480
Predicted Effect probably benign
Transcript: ENSMUST00000223020
AA Change: I724V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223110
AA Change: I193V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223255
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,265,906 (GRCm39) V255I possibly damaging Het
Acvrl1 T A 15: 101,035,477 (GRCm39) N334K probably damaging Het
Arhgef5 T A 6: 43,257,585 (GRCm39) I1284N probably damaging Het
Asns C A 6: 7,682,002 (GRCm39) R236L probably damaging Het
Barx2 T C 9: 31,770,090 (GRCm39) E146G probably damaging Het
Ccl7 A G 11: 81,936,661 (GRCm39) S18G probably benign Het
Cilp A T 9: 65,185,284 (GRCm39) T460S probably benign Het
Cpa5 A G 6: 30,626,290 (GRCm39) Y217C possibly damaging Het
Dgkh T A 14: 78,832,931 (GRCm39) probably benign Het
Dmc1 T C 15: 79,446,746 (GRCm39) T276A probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gstm2 T C 3: 107,891,521 (GRCm39) Y93C possibly damaging Het
Hc A T 2: 34,893,389 (GRCm39) I1274N probably damaging Het
Htra1 A G 7: 130,583,444 (GRCm39) I355V probably benign Het
Ifi214 G T 1: 173,354,082 (GRCm39) T196K possibly damaging Het
Ms4a5 T C 19: 11,256,742 (GRCm39) T52A probably benign Het
Mtx3 T C 13: 92,984,391 (GRCm39) F191L probably damaging Het
Padi2 A G 4: 140,654,424 (GRCm39) M192V probably benign Het
Pdcl3 C A 1: 39,034,976 (GRCm39) Q178K probably benign Het
Rap1gap2 G A 11: 74,326,540 (GRCm39) R176W probably damaging Het
Ska2 A G 11: 87,006,990 (GRCm39) T32A probably benign Het
Slc6a18 G T 13: 73,826,042 (GRCm39) Q3K probably benign Het
Slc7a14 T C 3: 31,292,919 (GRCm39) Y122C probably damaging Het
Svep1 T A 4: 58,070,308 (GRCm39) K2493* probably null Het
Trpm6 T A 19: 18,790,850 (GRCm39) N628K probably benign Het
Ttc17 T A 2: 94,205,566 (GRCm39) N260I probably damaging Het
Ttn T A 2: 76,542,583 (GRCm39) T25141S possibly damaging Het
Zfhx4 A C 3: 5,476,910 (GRCm39) Q3150P probably damaging Het
Other mutations in Ttc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Ttc7b APN 12 100,342,472 (GRCm39) missense probably benign 0.03
IGL01377:Ttc7b APN 12 100,321,371 (GRCm39) missense probably benign 0.21
IGL01617:Ttc7b APN 12 100,352,215 (GRCm39) missense possibly damaging 0.94
IGL02928:Ttc7b APN 12 100,369,674 (GRCm39) missense probably damaging 1.00
IGL03183:Ttc7b APN 12 100,339,968 (GRCm39) splice site probably null
R0302:Ttc7b UTSW 12 100,353,438 (GRCm39) missense possibly damaging 0.94
R0620:Ttc7b UTSW 12 100,466,332 (GRCm39) splice site probably null
R0625:Ttc7b UTSW 12 100,321,305 (GRCm39) missense probably benign 0.04
R1016:Ttc7b UTSW 12 100,369,617 (GRCm39) missense probably null 1.00
R1131:Ttc7b UTSW 12 100,348,378 (GRCm39) critical splice donor site probably null
R1241:Ttc7b UTSW 12 100,369,698 (GRCm39) missense possibly damaging 0.90
R1710:Ttc7b UTSW 12 100,369,667 (GRCm39) missense probably damaging 0.98
R1803:Ttc7b UTSW 12 100,373,261 (GRCm39) missense possibly damaging 0.94
R1887:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R1920:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R1921:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R1922:Ttc7b UTSW 12 100,381,389 (GRCm39) splice site probably null
R2062:Ttc7b UTSW 12 100,291,948 (GRCm39) missense probably damaging 1.00
R2239:Ttc7b UTSW 12 100,321,260 (GRCm39) critical splice donor site probably null
R2380:Ttc7b UTSW 12 100,321,260 (GRCm39) critical splice donor site probably null
R4581:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4582:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4598:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4599:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4600:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4601:Ttc7b UTSW 12 100,466,376 (GRCm39) missense probably damaging 0.99
R4779:Ttc7b UTSW 12 100,369,621 (GRCm39) missense probably damaging 1.00
R5027:Ttc7b UTSW 12 100,268,001 (GRCm39) missense probably damaging 1.00
R5244:Ttc7b UTSW 12 100,314,269 (GRCm39) missense probably damaging 0.99
R5387:Ttc7b UTSW 12 100,413,222 (GRCm39) missense possibly damaging 0.64
R5739:Ttc7b UTSW 12 100,350,492 (GRCm39) missense probably damaging 1.00
R5997:Ttc7b UTSW 12 100,339,819 (GRCm39) missense probably damaging 0.96
R6223:Ttc7b UTSW 12 100,353,368 (GRCm39) critical splice donor site probably null
R6238:Ttc7b UTSW 12 100,461,681 (GRCm39) missense probably benign 0.31
R6318:Ttc7b UTSW 12 100,291,936 (GRCm39) missense probably damaging 0.99
R6494:Ttc7b UTSW 12 100,461,666 (GRCm39) missense possibly damaging 0.73
R7153:Ttc7b UTSW 12 100,321,293 (GRCm39) missense probably damaging 1.00
R8084:Ttc7b UTSW 12 100,350,432 (GRCm39) missense probably damaging 1.00
R8132:Ttc7b UTSW 12 100,413,131 (GRCm39) missense probably damaging 0.99
R8364:Ttc7b UTSW 12 100,291,817 (GRCm39) missense probably benign 0.40
R8536:Ttc7b UTSW 12 100,339,803 (GRCm39) missense possibly damaging 0.56
R8719:Ttc7b UTSW 12 100,267,812 (GRCm39) missense probably damaging 0.99
R8932:Ttc7b UTSW 12 100,268,022 (GRCm39) missense probably benign 0.00
R8992:Ttc7b UTSW 12 100,466,433 (GRCm39) missense probably benign
R9674:Ttc7b UTSW 12 100,432,553 (GRCm39) missense probably benign 0.24
R9731:Ttc7b UTSW 12 100,461,683 (GRCm39) missense possibly damaging 0.62
Posted On 2016-08-02