Incidental Mutation 'IGL03171:Ttc30a1'
ID411820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc30a1
Ensembl Gene ENSMUSG00000075271
Gene Nametetratricopeptide repeat domain 30A1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL03171
Quality Score
Status
Chromosome2
Chromosomal Location75978247-75981967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 75980507 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 411 (A411T)
Ref Sequence ENSEMBL: ENSMUSP00000097574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
Predicted Effect probably benign
Transcript: ENSMUST00000099994
AA Change: A411T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: A411T

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.19e1 SMART
TPR 187 220 6.24e1 SMART
coiled coil region 380 411 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099995
SMART Domains Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272

DomainStartEndE-ValueType
TPR 45 78 1.1e-1 SMART
TPR 153 186 2.77e1 SMART
Blast:TPR 187 224 1e-13 BLAST
coiled coil region 380 405 N/A INTRINSIC
TPR 423 456 2.24e1 SMART
Blast:TPR 457 491 1e-10 BLAST
low complexity region 514 528 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,162,395 F434Y possibly damaging Het
Adam19 G T 11: 46,138,854 A709S probably damaging Het
Adgrf3 A T 5: 30,196,294 L42Q probably damaging Het
D430041D05Rik T C 2: 104,241,163 N1264S possibly damaging Het
Dnah9 T G 11: 65,981,241 K2721T probably benign Het
Efr3b C T 12: 3,968,622 A575T probably benign Het
Esco1 T C 18: 10,594,263 E341G probably damaging Het
Ezh2 G A 6: 47,540,781 R574* probably null Het
Fam169a G T 13: 97,110,014 probably benign Het
Fry T C 5: 150,380,809 Y555H probably damaging Het
Gm17175 A C 14: 51,571,608 S100R probably damaging Het
Gm4778 C A 3: 94,266,455 H257N probably benign Het
Gm527 T C 12: 64,921,157 Y118H probably damaging Het
Gm8765 T A 13: 50,702,352 S675R probably benign Het
H2-M10.4 G T 17: 36,461,250 T202N probably damaging Het
Igf1 A T 10: 87,864,821 T36S probably damaging Het
Ints8 C T 4: 11,231,702 V428I probably benign Het
Itga6 G A 2: 71,841,329 probably null Het
Jmjd1c A G 10: 67,225,498 E1210G possibly damaging Het
Kdm2a A T 19: 4,356,764 V134E probably damaging Het
Limch1 C A 5: 67,034,194 N947K possibly damaging Het
Met T C 6: 17,562,273 probably benign Het
Neb A G 2: 52,216,364 probably benign Het
Ogg1 A G 6: 113,333,414 I274V possibly damaging Het
Ola1 A T 2: 73,156,853 I145K probably benign Het
Olfr458 G A 6: 42,460,530 T163I possibly damaging Het
Pacrg A G 17: 10,576,533 V166A possibly damaging Het
Pira2 T A 7: 3,842,605 E260V probably damaging Het
Prickle3 T C X: 7,665,287 C277R probably damaging Het
Psen1 A G 12: 83,714,864 T147A probably damaging Het
Pxk C T 14: 8,151,014 probably benign Het
Scn11a G A 9: 119,819,847 P50L probably benign Het
Scn4a C A 11: 106,345,592 V281L probably benign Het
Shcbp1 A G 8: 4,739,166 I551T probably benign Het
Snx13 T A 12: 35,100,540 I281N probably benign Het
Tdo2 T C 3: 81,967,029 K209E probably benign Het
Trip6 C T 5: 137,312,884 R190Q probably benign Het
Ubqln1 T A 13: 58,180,858 E426D probably damaging Het
Zfp607b C A 7: 27,693,595 N49K possibly damaging Het
Other mutations in Ttc30a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Ttc30a1 APN 2 75981741 unclassified probably benign
IGL01140:Ttc30a1 APN 2 75979915 missense probably benign 0.01
IGL01527:Ttc30a1 APN 2 75980516 missense probably benign
IGL01690:Ttc30a1 APN 2 75979933 missense probably benign
IGL01916:Ttc30a1 APN 2 75980879 missense probably damaging 0.98
IGL02342:Ttc30a1 APN 2 75980632 missense probably benign 0.45
IGL02728:Ttc30a1 APN 2 75980849 missense probably benign 0.01
PIT4677001:Ttc30a1 UTSW 2 75979769 missense possibly damaging 0.60
R0781:Ttc30a1 UTSW 2 75979976 missense probably damaging 0.98
R1110:Ttc30a1 UTSW 2 75979976 missense probably damaging 0.98
R1185:Ttc30a1 UTSW 2 75980352 missense probably damaging 1.00
R1185:Ttc30a1 UTSW 2 75980352 missense probably damaging 1.00
R1750:Ttc30a1 UTSW 2 75980255 missense probably benign 0.21
R2016:Ttc30a1 UTSW 2 75981457 missense probably benign 0.42
R2017:Ttc30a1 UTSW 2 75981457 missense probably benign 0.42
R2020:Ttc30a1 UTSW 2 75980935 missense probably benign
R3606:Ttc30a1 UTSW 2 75981277 missense probably benign 0.06
R4272:Ttc30a1 UTSW 2 75980474 missense probably damaging 1.00
R4600:Ttc30a1 UTSW 2 75980633 missense probably benign 0.26
R4894:Ttc30a1 UTSW 2 75979744 makesense probably null
R4996:Ttc30a1 UTSW 2 75979922 missense probably benign
R5217:Ttc30a1 UTSW 2 75980803 missense probably damaging 1.00
R5721:Ttc30a1 UTSW 2 75981371 missense probably damaging 0.99
R6002:Ttc30a1 UTSW 2 75980777 missense possibly damaging 0.59
R6006:Ttc30a1 UTSW 2 75981488 missense probably benign 0.08
R7316:Ttc30a1 UTSW 2 75980857 missense probably damaging 1.00
R7391:Ttc30a1 UTSW 2 75980015 missense probably benign 0.05
R7494:Ttc30a1 UTSW 2 75979898 missense probably damaging 1.00
Posted On2016-08-02