Incidental Mutation 'IGL00907:Ttc32'
ID28704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc32
Ensembl Gene ENSMUSG00000066637
Gene Nametetratricopeptide repeat domain 32
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00907
Quality Score
Status
Chromosome12
Chromosomal Location9029997-9041988 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 9034953 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 58 (Y58N)
Ref Sequence ENSEMBL: ENSMUSP00000152004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085741] [ENSMUST00000219470] [ENSMUST00000219488]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085741
AA Change: Y58N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082891
Gene: ENSMUSG00000066637
AA Change: Y58N

DomainStartEndE-ValueType
Pfam:TPR_9 12 58 1.2e-2 PFAM
Pfam:TPR_12 51 121 1e-9 PFAM
Pfam:TPR_11 53 120 1.2e-14 PFAM
Pfam:TPR_1 55 88 3.5e-6 PFAM
Pfam:TPR_9 70 134 4.9e-7 PFAM
Pfam:TPR_1 90 122 1e-10 PFAM
Pfam:TPR_2 91 122 8.3e-11 PFAM
Pfam:TPR_8 91 122 2.5e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000219470
AA Change: Y58N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000219488
AA Change: Y58N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Other mutations in Ttc32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02809:Ttc32 APN 12 9035879 missense possibly damaging 0.53
R0012:Ttc32 UTSW 12 9035897 missense possibly damaging 0.96
R1769:Ttc32 UTSW 12 9035073 missense possibly damaging 0.85
R5888:Ttc32 UTSW 12 9035870 missense possibly damaging 0.53
R7787:Ttc32 UTSW 12 9038083 missense probably benign 0.00
R8061:Ttc32 UTSW 12 9034953 missense probably damaging 1.00
Z1176:Ttc32 UTSW 12 9035089 missense probably damaging 1.00
Posted On2013-04-17