Incidental Mutation 'R1185:Ttc30a1'
ID500182
Institutional Source Beutler Lab
Gene Symbol Ttc30a1
Ensembl Gene ENSMUSG00000075271
Gene Nametetratricopeptide repeat domain 30A1
Synonyms
MMRRC Submission 039257-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #R1185 (G1)
Quality Score113
Status Not validated
Chromosome2
Chromosomal Location75978247-75981967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75980352 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 462 (N462K)
Ref Sequence ENSEMBL: ENSMUSP00000097574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
Predicted Effect probably damaging
Transcript: ENSMUST00000099994
AA Change: N462K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: N462K

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
  • 1x: 98.2%
  • 3x: 96.3%
  • 10x: 87.8%
  • 20x: 68.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp2 A G 5: 143,904,691 S110P possibly damaging Het
Akap9 A G 5: 3,948,783 T51A probably benign Het
Arhgef25 A G 10: 127,183,781 F430L possibly damaging Het
Brap T C 5: 121,675,279 V235A probably damaging Het
Cd69 C T 6: 129,270,185 G23D probably damaging Het
Cecr2 C T 6: 120,758,205 R24* probably null Het
Celsr2 T C 3: 108,399,709 D1974G possibly damaging Het
Cps1 A G 1: 67,195,199 K915R probably benign Het
Csmd1 T C 8: 16,358,348 D401G probably damaging Het
Dusp13 A G 14: 21,735,018 F141S probably damaging Het
Fam162b A G 10: 51,590,343 W27R probably benign Het
Focad A G 4: 88,178,187 T269A probably benign Het
Ghr T A 15: 3,328,062 R241S possibly damaging Het
Gm21319 A G 12: 87,773,708 V27A probably benign Het
Hirip3 AAGAG AAG 7: 126,863,660 probably null Het
Itgb2l A G 16: 96,429,040 Y357H possibly damaging Het
Jrkl T C 9: 13,244,933 D241G possibly damaging Het
Lmod1 A G 1: 135,364,229 D274G probably benign Het
Lrrn2 A G 1: 132,939,221 S675G probably benign Het
Ltbp4 G C 7: 27,310,535 P1200R probably damaging Het
Mdn1 T C 4: 32,735,576 L3414P possibly damaging Het
Myo16 T A 8: 10,633,624 S1856T probably damaging Het
Neb A G 2: 52,296,298 Y921H probably damaging Het
Olfr135 T A 17: 38,209,183 *313R probably null Het
Pgap3 T C 11: 98,391,134 D117G probably damaging Het
Ppp1r9b T C 11: 95,001,986 F671L possibly damaging Het
Proser3 G A 7: 30,546,147 A144V probably benign Het
Purg T G 8: 33,386,869 Y178* probably null Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Sorbs1 T A 19: 40,382,606 D79V probably damaging Het
Tcaf3 T C 6: 42,591,434 T663A probably damaging Het
Timd4 C A 11: 46,817,648 T167K probably damaging Het
Tjp2 A G 19: 24,131,163 L195P possibly damaging Het
Tnr G A 1: 159,852,286 A277T probably benign Het
Unc13a C T 8: 71,661,833 G181D probably benign Het
Vmn1r11 T A 6: 57,137,507 L52Q possibly damaging Het
Vmn2r125 C A 4: 156,351,101 A258D probably benign Het
Zfp27 T C 7: 29,895,829 D237G possibly damaging Het
Zfp39 T C 11: 58,902,844 T23A possibly damaging Het
Zfp459 T G 13: 67,408,481 N161T probably benign 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
IGL03171:Ttc30a1 APN 2 75980507 missense probably benign 0.00
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
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
Predicted Primers
Posted On2017-12-01