Incidental Mutation 'IGL03195:Ttc9c'
ID 412785
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc9c
Ensembl Gene ENSMUSG00000071660
Gene Name tetratricopeptide repeat domain 9C
Synonyms 6330408J23Rik, 2210019E14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL03195
Quality Score
Status
Chromosome 19
Chromosomal Location 8786439-8796697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8793344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 99 (K99E)
Ref Sequence ENSEMBL: ENSMUSP00000094513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088092] [ENSMUST00000096751] [ENSMUST00000096753] [ENSMUST00000153281]
AlphaFold Q810A3
Predicted Effect probably benign
Transcript: ENSMUST00000088092
AA Change: K99E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085413
Gene: ENSMUSG00000071660
AA Change: K99E

DomainStartEndE-ValueType
TPR 8 41 1.11e1 SMART
TPR 72 107 3.41e1 SMART
TPR 108 141 7.34e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096751
AA Change: K99E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000094513
Gene: ENSMUSG00000071660
AA Change: K99E

DomainStartEndE-ValueType
TPR 8 41 1.11e1 SMART
TPR 72 107 3.41e1 SMART
TPR 108 141 7.34e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096753
SMART Domains Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659

DomainStartEndE-ValueType
SAP 3 37 6.03e-9 SMART
low complexity region 68 126 N/A INTRINSIC
low complexity region 224 240 N/A INTRINSIC
SPRY 287 416 5.23e-32 SMART
Pfam:AAA_33 452 597 1.2e-25 PFAM
low complexity region 637 666 N/A INTRINSIC
low complexity region 700 719 N/A INTRINSIC
low complexity region 728 745 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148090
Predicted Effect probably benign
Transcript: ENSMUST00000153281
SMART Domains Protein: ENSMUSP00000120656
Gene: ENSMUSG00000071660

DomainStartEndE-ValueType
Pfam:TPR_11 6 93 1e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,903,607 (GRCm39) D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,768 (GRCm39) probably benign Het
Ankrd42 T A 7: 92,241,066 (GRCm39) Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 (GRCm39) F592I probably damaging Het
Arhgef28 A G 13: 98,088,071 (GRCm39) probably null Het
Boc A G 16: 44,313,184 (GRCm39) F560S probably damaging Het
Ccdc81 A T 7: 89,545,916 (GRCm39) V96E probably benign Het
Cep162 C T 9: 87,107,839 (GRCm39) S517N probably benign Het
Cntnap5a A G 1: 116,085,178 (GRCm39) N372S probably benign Het
Dnah7a G A 1: 53,458,766 (GRCm39) R3791C probably damaging Het
Fdxr T C 11: 115,166,918 (GRCm39) Q57R probably benign Het
Fsip2l T A X: 47,961,825 (GRCm39) Q296L possibly damaging Het
G3bp2 A G 5: 92,216,367 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,678,660 (GRCm39) T487I probably benign Het
Kpna7 A T 5: 144,933,847 (GRCm39) I282N probably damaging Het
Lif A T 11: 4,219,201 (GRCm39) Y160F probably damaging Het
Lrp1b A T 2: 41,361,134 (GRCm39) D556E possibly damaging Het
Myom2 G T 8: 15,161,844 (GRCm39) E954* probably null Het
Nr6a1 A T 2: 38,632,948 (GRCm39) I171N probably damaging Het
Nup210 C A 6: 90,992,832 (GRCm39) R1059L probably benign Het
Or11g27 A G 14: 50,770,877 (GRCm39) T3A probably benign Het
Or2ag16 A G 7: 106,351,980 (GRCm39) I205T probably benign Het
Or2w25 G A 11: 59,504,629 (GRCm39) V280M probably damaging Het
Or5ak4 A T 2: 85,161,864 (GRCm39) I126N probably damaging Het
Or5aq6 A T 2: 86,922,913 (GRCm39) V276E probably damaging Het
Ostm1 T C 10: 42,574,213 (GRCm39) V302A probably damaging Het
Oxct1 A G 15: 4,130,671 (GRCm39) M388V possibly damaging Het
Ppp6r2 G A 15: 89,152,758 (GRCm39) V300I possibly damaging Het
Prmt1 T C 7: 44,626,995 (GRCm39) Y205C probably damaging Het
Slc45a4 A C 15: 73,456,272 (GRCm39) V636G possibly damaging Het
Spata18 T A 5: 73,828,591 (GRCm39) L270Q probably damaging Het
Stard9 G A 2: 120,536,283 (GRCm39) D4151N probably damaging Het
Thsd7b G A 1: 129,556,646 (GRCm39) C334Y probably damaging Het
Tmtc3 C T 10: 100,294,896 (GRCm39) V406M probably benign Het
Trpc5 T A X: 143,165,724 (GRCm39) M900L probably benign Het
Vmn1r73 A G 7: 11,491,007 (GRCm39) E275G probably damaging Het
Other mutations in Ttc9c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5081:Ttc9c UTSW 19 8,793,396 (GRCm39) nonsense probably null
R5622:Ttc9c UTSW 19 8,793,332 (GRCm39) nonsense probably null
R6228:Ttc9c UTSW 19 8,795,847 (GRCm39) missense possibly damaging 0.57
R7003:Ttc9c UTSW 19 8,795,904 (GRCm39) missense probably damaging 0.97
R7058:Ttc9c UTSW 19 8,796,191 (GRCm39) start gained probably benign
R7684:Ttc9c UTSW 19 8,789,128 (GRCm39) missense probably damaging 1.00
R7823:Ttc9c UTSW 19 8,793,286 (GRCm39) missense probably benign
R8710:Ttc9c UTSW 19 8,795,860 (GRCm39) missense probably benign 0.12
Posted On 2016-08-02