Incidental Mutation 'IGL01617:Ttc7b'
ID92418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc7b
Ensembl Gene ENSMUSG00000033530
Gene Nametetratricopeptide repeat domain 7B
SynonymsTtc7l1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.372) question?
Stock #IGL01617
Quality Score
Status
Chromosome12
Chromosomal Location100300770-100520826 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 100385956 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 414 (A414D)
Ref Sequence ENSEMBL: ENSMUSP00000152299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062957] [ENSMUST00000223020]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062957
AA Change: A414D

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: A414D

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: ENSMUST00000221975
Predicted Effect possibly damaging
Transcript: ENSMUST00000223020
AA Change: A414D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223514
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,150 I160F possibly damaging Het
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Ceacam13 A T 7: 18,011,383 D126V possibly damaging Het
Cep68 G T 11: 20,239,510 Q501K probably benign Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Chrna5 A G 9: 55,005,013 M262V probably damaging Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Mterf1b A T 5: 4,196,503 D48V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Polr2i T C 7: 30,232,392 F16S possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Ttc7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Ttc7b APN 12 100376213 missense probably benign 0.03
IGL01377:Ttc7b APN 12 100355112 missense probably benign 0.21
IGL02928:Ttc7b APN 12 100403415 missense probably damaging 1.00
IGL03183:Ttc7b APN 12 100373709 splice site probably null
IGL03341:Ttc7b APN 12 100325735 missense possibly damaging 0.66
R0302:Ttc7b UTSW 12 100387179 missense possibly damaging 0.94
R0620:Ttc7b UTSW 12 100500073 splice site probably null
R0625:Ttc7b UTSW 12 100355046 missense probably benign 0.04
R1016:Ttc7b UTSW 12 100403358 missense probably null 1.00
R1131:Ttc7b UTSW 12 100382119 critical splice donor site probably null
R1241:Ttc7b UTSW 12 100403439 missense possibly damaging 0.90
R1710:Ttc7b UTSW 12 100403408 missense probably damaging 0.98
R1803:Ttc7b UTSW 12 100407002 missense possibly damaging 0.94
R1887:Ttc7b UTSW 12 100415130 splice site probably null
R1920:Ttc7b UTSW 12 100415130 splice site probably null
R1921:Ttc7b UTSW 12 100415130 splice site probably null
R1922:Ttc7b UTSW 12 100415130 splice site probably null
R2062:Ttc7b UTSW 12 100325689 missense probably damaging 1.00
R2239:Ttc7b UTSW 12 100355001 critical splice donor site probably null
R2380:Ttc7b UTSW 12 100355001 critical splice donor site probably null
R4581:Ttc7b UTSW 12 100500117 missense probably damaging 0.99
R4582:Ttc7b UTSW 12 100500117 missense probably damaging 0.99
R4598:Ttc7b UTSW 12 100500117 missense probably damaging 0.99
R4599:Ttc7b UTSW 12 100500117 missense probably damaging 0.99
R4600:Ttc7b UTSW 12 100500117 missense probably damaging 0.99
R4601:Ttc7b UTSW 12 100500117 missense probably damaging 0.99
R4779:Ttc7b UTSW 12 100403362 missense probably damaging 1.00
R5027:Ttc7b UTSW 12 100301742 missense probably damaging 1.00
R5244:Ttc7b UTSW 12 100348010 missense probably damaging 0.99
R5387:Ttc7b UTSW 12 100446963 missense possibly damaging 0.64
R5739:Ttc7b UTSW 12 100384233 missense probably damaging 1.00
R5997:Ttc7b UTSW 12 100373560 missense probably damaging 0.96
R6223:Ttc7b UTSW 12 100387109 critical splice donor site probably null
R6238:Ttc7b UTSW 12 100495422 missense probably benign 0.31
R6318:Ttc7b UTSW 12 100325677 missense probably damaging 0.99
R6494:Ttc7b UTSW 12 100495407 missense possibly damaging 0.73
R7153:Ttc7b UTSW 12 100355034 missense probably damaging 1.00
R8084:Ttc7b UTSW 12 100384173 missense probably damaging 1.00
R8132:Ttc7b UTSW 12 100446872 missense probably damaging 0.99
R8364:Ttc7b UTSW 12 100325558 missense probably benign 0.40
R8536:Ttc7b UTSW 12 100373544 missense possibly damaging 0.56
R8719:Ttc7b UTSW 12 100301553 missense probably damaging 0.99
Posted On2013-12-09