Incidental Mutation 'IGL02475:Ttc17'
ID294914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc17
Ensembl Gene ENSMUSG00000027194
Gene Nametetratricopeptide repeat domain 17
SynonymsD2Bwg1005e, 9130020K17Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.661) question?
Stock #IGL02475
Quality Score
Status
Chromosome2
Chromosomal Location94300767-94406689 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 94364376 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 551 (D551Y)
Ref Sequence ENSEMBL: ENSMUSP00000106869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055081] [ENSMUST00000094801] [ENSMUST00000111237] [ENSMUST00000111238]
Predicted Effect probably benign
Transcript: ENSMUST00000055081
SMART Domains Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194

DomainStartEndE-ValueType
TPR 46 79 1.33e1 SMART
Blast:TPR 82 115 3e-10 BLAST
TPR 116 149 4.91e-4 SMART
low complexity region 326 344 N/A INTRINSIC
TPR 499 532 2.43e1 SMART
TPR 535 568 6.75e1 SMART
TPR 569 602 6.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000094801
AA Change: D551Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: D551Y

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
internal_repeat_1 113 271 7.26e-16 PROSPERO
low complexity region 275 293 N/A INTRINSIC
TPR 295 328 1.39e-3 SMART
coiled coil region 340 382 N/A INTRINSIC
TPR 619 652 1.33e1 SMART
Blast:TPR 655 688 3e-10 BLAST
TPR 689 722 4.91e-4 SMART
low complexity region 899 917 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111237
AA Change: D551Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: D551Y

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
Blast:TPR 225 258 8e-11 BLAST
low complexity region 275 293 N/A INTRINSIC
TPR 295 328 1.39e-3 SMART
TPR 619 652 1.33e1 SMART
Blast:TPR 655 688 4e-10 BLAST
TPR 689 722 4.91e-4 SMART
low complexity region 842 860 N/A INTRINSIC
TPR 1015 1048 2.43e1 SMART
TPR 1051 1084 6.75e1 SMART
TPR 1085 1118 6.84e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111238
AA Change: D551Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: D551Y

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
internal_repeat_2 113 271 8.31e-15 PROSPERO
low complexity region 275 293 N/A INTRINSIC
TPR 295 328 1.39e-3 SMART
coiled coil region 340 382 N/A INTRINSIC
TPR 619 652 1.33e1 SMART
Blast:TPR 655 688 4e-10 BLAST
TPR 689 722 4.91e-4 SMART
low complexity region 899 917 N/A INTRINSIC
TPR 1072 1105 2.43e1 SMART
TPR 1108 1141 6.75e1 SMART
TPR 1142 1175 6.84e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150215
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Abhd6 T A 14: 8,039,849 I27N probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Gm20390 A G 11: 93,955,574 V16A probably damaging Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Ngef G T 1: 87,479,150 T632K possibly damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Sirt4 T C 5: 115,482,996 E39G probably benign Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tmem54 A T 4: 129,108,280 H40L probably damaging Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Xkr8 A T 4: 132,728,201 I287N probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Ttc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ttc17 APN 2 94323083 splice site probably benign
IGL00870:Ttc17 APN 2 94371733 splice site probably null
IGL01120:Ttc17 APN 2 94371796 missense probably damaging 1.00
IGL01845:Ttc17 APN 2 94332832 nonsense probably null
IGL01895:Ttc17 APN 2 94375146 missense possibly damaging 0.80
IGL02064:Ttc17 APN 2 94330667 missense probably damaging 1.00
IGL02296:Ttc17 APN 2 94377710 missense probably damaging 1.00
IGL02309:Ttc17 APN 2 94342661 missense probably benign
IGL02456:Ttc17 APN 2 94362785 splice site probably benign
IGL03341:Ttc17 APN 2 94375221 missense probably damaging 1.00
IGL03371:Ttc17 APN 2 94386105 missense probably damaging 1.00
R0389:Ttc17 UTSW 2 94378094 missense probably benign 0.03
R0443:Ttc17 UTSW 2 94378094 missense probably benign 0.03
R0511:Ttc17 UTSW 2 94323120 missense possibly damaging 0.87
R0763:Ttc17 UTSW 2 94332803 missense probably benign 0.08
R1980:Ttc17 UTSW 2 94326704 missense possibly damaging 0.82
R1981:Ttc17 UTSW 2 94326704 missense possibly damaging 0.82
R1987:Ttc17 UTSW 2 94364345 missense probably benign
R2064:Ttc17 UTSW 2 94366547 missense probably damaging 1.00
R2147:Ttc17 UTSW 2 94301794 missense possibly damaging 0.87
R2155:Ttc17 UTSW 2 94366642 missense possibly damaging 0.88
R2844:Ttc17 UTSW 2 94376074 nonsense probably null
R3719:Ttc17 UTSW 2 94364327 missense probably benign 0.27
R3852:Ttc17 UTSW 2 94369413 missense possibly damaging 0.86
R3947:Ttc17 UTSW 2 94376146 splice site probably benign
R4411:Ttc17 UTSW 2 94342753 missense probably damaging 0.97
R4461:Ttc17 UTSW 2 94366571 missense probably benign 0.02
R4660:Ttc17 UTSW 2 94364429 missense possibly damaging 0.51
R4762:Ttc17 UTSW 2 94371768 missense probably damaging 1.00
R4818:Ttc17 UTSW 2 94332891 missense possibly damaging 0.91
R4819:Ttc17 UTSW 2 94364610 missense probably damaging 1.00
R4864:Ttc17 UTSW 2 94366635 missense probably benign 0.01
R4870:Ttc17 UTSW 2 94366609 missense probably damaging 1.00
R5203:Ttc17 UTSW 2 94378716 missense probably damaging 1.00
R5288:Ttc17 UTSW 2 94303640 missense probably damaging 1.00
R5385:Ttc17 UTSW 2 94303640 missense probably damaging 1.00
R5386:Ttc17 UTSW 2 94303640 missense probably damaging 1.00
R5453:Ttc17 UTSW 2 94303560 missense probably damaging 1.00
R5583:Ttc17 UTSW 2 94377682 missense probably damaging 1.00
R5683:Ttc17 UTSW 2 94362521 missense probably damaging 1.00
R5921:Ttc17 UTSW 2 94378848 missense probably damaging 1.00
R6272:Ttc17 UTSW 2 94358755 missense probably damaging 1.00
R6444:Ttc17 UTSW 2 94303546 missense possibly damaging 0.57
R6748:Ttc17 UTSW 2 94386102 missense probably benign 0.02
R7204:Ttc17 UTSW 2 94362428 missense possibly damaging 0.95
R7300:Ttc17 UTSW 2 94375134 missense probably damaging 1.00
R7446:Ttc17 UTSW 2 94375150 missense probably damaging 0.97
R7680:Ttc17 UTSW 2 94366544 missense probably benign 0.06
X0013:Ttc17 UTSW 2 94330670 missense probably damaging 1.00
X0018:Ttc17 UTSW 2 94378716 missense probably damaging 1.00
X0025:Ttc17 UTSW 2 94324516 missense possibly damaging 0.86
Posted On2015-04-16