Incidental Mutation 'IGL02342:Ttc30a1'
ID289133
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 #IGL02342
Quality Score
Status
Chromosome2
Chromosomal Location75978247-75981967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 75980632 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 369 (T369K)
Ref Sequence ENSEMBL: ENSMUSP00000097574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]
Predicted Effect probably benign
Transcript: ENSMUST00000099994
AA Change: T369K

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: T369K

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,175,001 P97Q probably damaging Het
Abcb10 A T 8: 123,962,034 V501E probably damaging Het
Acsf3 T C 8: 122,817,498 Y572H probably benign Het
Adamts3 A T 5: 89,691,473 probably null Het
Alox8 A G 11: 69,186,227 L480P probably damaging Het
Arhgap35 G A 7: 16,562,380 T920I probably benign Het
Brca2 C A 5: 150,542,824 L2018M possibly damaging Het
Brdt C A 5: 107,342,203 H45N probably damaging Het
C1s2 A G 6: 124,632,116 F155L probably damaging Het
Ccser2 A G 14: 36,918,605 probably benign Het
Cd8a T A 6: 71,373,739 C63S probably damaging Het
Clk2 A T 3: 89,175,691 T424S probably benign Het
Cntn1 A G 15: 92,246,017 E287G probably benign Het
Cobl A C 11: 12,253,672 V928G possibly damaging Het
Col12a1 A G 9: 79,649,896 probably null Het
Crnkl1 A T 2: 145,924,713 probably null Het
Defb26 T C 2: 152,508,201 N53S possibly damaging Het
Duox1 A T 2: 122,347,312 T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 L1233P probably damaging Het
Eif5a2 A G 3: 28,793,761 E116G possibly damaging Het
Fam208a T A 14: 27,476,667 S1319T possibly damaging Het
Fam71f1 A G 6: 29,323,830 T185A possibly damaging Het
Gdap2 G A 3: 100,178,316 A185T probably damaging Het
Grm8 T C 6: 27,363,804 R571G probably benign Het
Hfe2 G A 3: 96,528,172 D249N possibly damaging Het
Hsp90b1 T C 10: 86,695,739 probably null Het
Ighv1-75 T G 12: 115,834,258 probably benign Het
Ikzf1 A G 11: 11,700,216 probably benign Het
Kdm4d A G 9: 14,463,564 W333R probably damaging Het
Lama3 A T 18: 12,491,476 N1426I probably damaging Het
Lmbrd1 A G 1: 24,704,878 Y119C probably damaging Het
Mctp1 A G 13: 77,024,857 Y884C probably damaging Het
Naip6 G T 13: 100,303,240 P340T possibly damaging Het
Nfkbib G T 7: 28,762,103 H70N probably damaging Het
Nol4 A T 18: 22,770,869 probably benign Het
Obscn C T 11: 59,001,088 A6873T probably benign Het
Olfr66 T A 7: 103,881,380 I288F probably benign Het
Olfr705 A G 7: 106,714,025 S219P probably benign Het
Olfr986 T A 9: 40,187,527 N137K probably benign Het
Paqr6 A G 3: 88,366,184 Y136C probably damaging Het
Pcdh18 T A 3: 49,756,044 D274V probably damaging Het
Phip A G 9: 82,886,692 Y1196H probably damaging Het
Prc1 T C 7: 80,309,442 L345S probably damaging Het
Smpdl3a A G 10: 57,809,180 probably benign Het
Ssfa2 A G 2: 79,660,285 N943S probably benign Het
Tac1 G T 6: 7,559,119 probably null Het
Tg A G 15: 66,764,291 T576A probably benign Het
Thbs2 A T 17: 14,676,316 D770E probably damaging Het
Tmem117 T C 15: 95,011,450 V248A possibly damaging Het
Trpm8 T C 1: 88,328,250 I209T possibly damaging Het
Wrap53 A G 11: 69,563,591 F244L probably damaging Het
Wrap73 A T 4: 154,148,780 Q137L probably benign Het
Zfhx4 A T 3: 5,402,374 T2531S 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
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
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 On2015-04-16