Incidental Mutation 'IGL02809:Ttc32'
ID 360520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc32
Ensembl Gene ENSMUSG00000066637
Gene Name tetratricopeptide repeat domain 32
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02809
Quality Score
Status
Chromosome 12
Chromosomal Location 9029997-9041988 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9035879 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 142 (R142Q)
Ref Sequence ENSEMBL: ENSMUSP00000082891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085741] [ENSMUST00000219470] [ENSMUST00000219488]
AlphaFold Q9DAC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000085741
AA Change: R142Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082891
Gene: ENSMUSG00000066637
AA Change: R142Q

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 benign
Transcript: ENSMUST00000219470
Predicted Effect probably benign
Transcript: ENSMUST00000219488
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Camkmt A T 17: 85,394,648 N180I probably damaging Het
Card9 A G 2: 26,356,864 M324T probably benign Het
Cenpf T C 1: 189,682,358 probably benign Het
Cerkl A G 2: 79,342,202 S349P possibly damaging Het
Ctsj C T 13: 61,003,160 S162N probably damaging Het
Fancm A G 12: 65,121,667 I1601M possibly damaging Het
Fpr-rs3 T A 17: 20,623,963 R305S probably damaging Het
Gpatch8 A G 11: 102,487,590 V178A unknown Het
Itga4 A G 2: 79,280,577 Y253C probably damaging Het
Kntc1 T C 5: 123,776,582 F655S probably damaging Het
Manba A G 3: 135,547,560 D414G probably damaging Het
Nfkbid C T 7: 30,425,235 T7I possibly damaging Het
Ngly1 G T 14: 16,281,791 C349F probably damaging Het
Palld T C 8: 61,515,247 N1095S probably damaging Het
Sp100 C T 1: 85,681,124 R325W probably damaging Het
Stxbp4 A G 11: 90,600,184 probably null Het
Tle2 C A 10: 81,586,362 probably null Het
Tlr13 G T X: 106,156,691 probably benign Het
Ubap2l G A 3: 90,021,246 T526M probably damaging Het
Uggt2 T C 14: 119,090,738 E124G probably benign Het
Vmn1r72 A G 7: 11,670,003 F173L probably benign Het
Xab2 T C 8: 3,610,175 S851G probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Ttc32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Ttc32 APN 12 9034953 missense probably damaging 1.00
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
R8884:Ttc32 UTSW 12 9038083 missense probably benign 0.00
R8968:Ttc32 UTSW 12 9030187 missense probably benign
Z1176:Ttc32 UTSW 12 9035089 missense probably damaging 1.00
Posted On 2015-12-18