Incidental Mutation 'IGL03341:Ttc17'
ID 417232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc17
Ensembl Gene ENSMUSG00000027194
Gene Name tetratricopeptide repeat domain 17
Synonyms D2Bwg1005e, 9130020K17Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.697) question?
Stock # IGL03341
Quality Score
Status
Chromosome 2
Chromosomal Location 94300767-94406689 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94375221 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 260 (N260I)
Ref Sequence ENSEMBL: ENSMUSP00000106869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094801] [ENSMUST00000111237] [ENSMUST00000111238]
AlphaFold E9PVB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000094801
AA Change: N260I

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: N260I

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: N260I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: N260I

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: N260I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N260I

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: ENSMUST00000150266
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,375,894 (GRCm38) V255I possibly damaging Het
Acvrl1 T A 15: 101,137,596 (GRCm38) N334K probably damaging Het
Arhgef5 T A 6: 43,280,651 (GRCm38) I1284N probably damaging Het
Asns C A 6: 7,682,002 (GRCm38) R236L probably damaging Het
Barx2 T C 9: 31,858,794 (GRCm38) E146G probably damaging Het
Ccl7 A G 11: 82,045,835 (GRCm38) S18G probably benign Het
Cilp A T 9: 65,278,002 (GRCm38) T460S probably benign Het
Cpa5 A G 6: 30,626,291 (GRCm38) Y217C possibly damaging Het
Dgkh T A 14: 78,595,491 (GRCm38) probably benign Het
Dmc1 T C 15: 79,562,545 (GRCm38) T276A probably benign Het
Fryl G A 5: 73,076,695 (GRCm38) P1496S probably benign Het
Gstm2 T C 3: 107,984,205 (GRCm38) Y93C possibly damaging Het
Hc A T 2: 35,003,377 (GRCm38) I1274N probably damaging Het
Htra1 A G 7: 130,981,714 (GRCm38) I355V probably benign Het
Ifi214 G T 1: 173,526,516 (GRCm38) T196K possibly damaging Het
Ms4a5 T C 19: 11,279,378 (GRCm38) T52A probably benign Het
Mtx3 T C 13: 92,847,883 (GRCm38) F191L probably damaging Het
Padi2 A G 4: 140,927,113 (GRCm38) M192V probably benign Het
Pdcl3 C A 1: 38,995,895 (GRCm38) Q178K probably benign Het
Rap1gap2 G A 11: 74,435,714 (GRCm38) R176W probably damaging Het
Ska2 A G 11: 87,116,164 (GRCm38) T32A probably benign Het
Slc6a18 G T 13: 73,677,923 (GRCm38) Q3K probably benign Het
Slc7a14 T C 3: 31,238,770 (GRCm38) Y122C probably damaging Het
Svep1 T A 4: 58,070,308 (GRCm38) K2493* probably null Het
Trpm6 T A 19: 18,813,486 (GRCm38) N628K probably benign Het
Ttc7b T C 12: 100,325,735 (GRCm38) I193V possibly damaging Het
Ttn T A 2: 76,712,239 (GRCm38) T25141S possibly damaging Het
Zfhx4 A C 3: 5,411,850 (GRCm38) Q3150P probably damaging Het
Other mutations in Ttc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ttc17 APN 2 94,323,083 (GRCm38) splice site probably benign
IGL00870:Ttc17 APN 2 94,371,733 (GRCm38) splice site probably null
IGL01120:Ttc17 APN 2 94,371,796 (GRCm38) missense probably damaging 1.00
IGL01845:Ttc17 APN 2 94,332,832 (GRCm38) nonsense probably null
IGL01895:Ttc17 APN 2 94,375,146 (GRCm38) missense possibly damaging 0.80
IGL02064:Ttc17 APN 2 94,330,667 (GRCm38) missense probably damaging 1.00
IGL02296:Ttc17 APN 2 94,377,710 (GRCm38) missense probably damaging 1.00
IGL02309:Ttc17 APN 2 94,342,661 (GRCm38) missense probably benign
IGL02456:Ttc17 APN 2 94,362,785 (GRCm38) splice site probably benign
IGL02475:Ttc17 APN 2 94,364,376 (GRCm38) missense probably damaging 1.00
IGL03371:Ttc17 APN 2 94,386,105 (GRCm38) missense probably damaging 1.00
R0389:Ttc17 UTSW 2 94,378,094 (GRCm38) missense probably benign 0.03
R0443:Ttc17 UTSW 2 94,378,094 (GRCm38) missense probably benign 0.03
R0511:Ttc17 UTSW 2 94,323,120 (GRCm38) missense possibly damaging 0.87
R0763:Ttc17 UTSW 2 94,332,803 (GRCm38) missense probably benign 0.08
R1980:Ttc17 UTSW 2 94,326,704 (GRCm38) missense probably benign 0.14
R1981:Ttc17 UTSW 2 94,326,704 (GRCm38) missense probably benign 0.14
R1987:Ttc17 UTSW 2 94,364,345 (GRCm38) missense probably benign
R2064:Ttc17 UTSW 2 94,366,547 (GRCm38) missense probably damaging 1.00
R2147:Ttc17 UTSW 2 94,301,794 (GRCm38) missense possibly damaging 0.87
R2155:Ttc17 UTSW 2 94,366,642 (GRCm38) missense possibly damaging 0.88
R2844:Ttc17 UTSW 2 94,376,074 (GRCm38) nonsense probably null
R3719:Ttc17 UTSW 2 94,364,327 (GRCm38) missense probably benign 0.27
R3852:Ttc17 UTSW 2 94,369,413 (GRCm38) missense possibly damaging 0.86
R3947:Ttc17 UTSW 2 94,376,146 (GRCm38) splice site probably benign
R4411:Ttc17 UTSW 2 94,342,753 (GRCm38) missense probably damaging 0.97
R4461:Ttc17 UTSW 2 94,366,571 (GRCm38) missense probably benign 0.02
R4660:Ttc17 UTSW 2 94,364,429 (GRCm38) missense possibly damaging 0.51
R4762:Ttc17 UTSW 2 94,371,768 (GRCm38) missense probably damaging 1.00
R4818:Ttc17 UTSW 2 94,332,891 (GRCm38) missense possibly damaging 0.91
R4819:Ttc17 UTSW 2 94,364,610 (GRCm38) missense probably damaging 1.00
R4864:Ttc17 UTSW 2 94,366,635 (GRCm38) missense probably benign 0.01
R4870:Ttc17 UTSW 2 94,366,609 (GRCm38) missense probably damaging 1.00
R5203:Ttc17 UTSW 2 94,378,716 (GRCm38) missense probably damaging 1.00
R5288:Ttc17 UTSW 2 94,303,640 (GRCm38) missense probably damaging 1.00
R5385:Ttc17 UTSW 2 94,303,640 (GRCm38) missense probably damaging 1.00
R5386:Ttc17 UTSW 2 94,303,640 (GRCm38) missense probably damaging 1.00
R5453:Ttc17 UTSW 2 94,303,560 (GRCm38) missense probably damaging 1.00
R5583:Ttc17 UTSW 2 94,377,682 (GRCm38) missense probably damaging 1.00
R5683:Ttc17 UTSW 2 94,362,521 (GRCm38) missense probably damaging 1.00
R5921:Ttc17 UTSW 2 94,378,848 (GRCm38) missense probably damaging 1.00
R6272:Ttc17 UTSW 2 94,358,755 (GRCm38) missense probably damaging 1.00
R6444:Ttc17 UTSW 2 94,303,546 (GRCm38) missense possibly damaging 0.57
R6748:Ttc17 UTSW 2 94,386,102 (GRCm38) missense probably benign 0.02
R7204:Ttc17 UTSW 2 94,362,428 (GRCm38) missense possibly damaging 0.95
R7300:Ttc17 UTSW 2 94,375,134 (GRCm38) missense probably damaging 1.00
R7446:Ttc17 UTSW 2 94,375,150 (GRCm38) missense probably damaging 0.97
R7680:Ttc17 UTSW 2 94,366,544 (GRCm38) missense probably benign 0.06
R7912:Ttc17 UTSW 2 94,378,821 (GRCm38) missense probably damaging 1.00
R8083:Ttc17 UTSW 2 94,374,564 (GRCm38) missense probably damaging 1.00
R8304:Ttc17 UTSW 2 94,369,181 (GRCm38) intron probably benign
R8381:Ttc17 UTSW 2 94,301,821 (GRCm38) missense probably damaging 1.00
R8512:Ttc17 UTSW 2 94,371,763 (GRCm38) missense probably damaging 1.00
R8737:Ttc17 UTSW 2 94,376,029 (GRCm38) critical splice donor site probably null
R8850:Ttc17 UTSW 2 94,406,658 (GRCm38) missense possibly damaging 0.55
R8886:Ttc17 UTSW 2 94,375,128 (GRCm38) missense probably benign 0.19
R8888:Ttc17 UTSW 2 94,326,704 (GRCm38) missense probably benign 0.14
R8891:Ttc17 UTSW 2 94,362,419 (GRCm38) missense probably damaging 1.00
R9336:Ttc17 UTSW 2 94,358,853 (GRCm38) missense probably benign 0.00
R9600:Ttc17 UTSW 2 94,374,545 (GRCm38) missense probably damaging 1.00
R9632:Ttc17 UTSW 2 94,378,752 (GRCm38) missense probably damaging 1.00
R9642:Ttc17 UTSW 2 94,364,390 (GRCm38) missense probably benign 0.00
R9657:Ttc17 UTSW 2 94,406,665 (GRCm38) start codon destroyed probably benign 0.02
X0013:Ttc17 UTSW 2 94,330,670 (GRCm38) missense probably damaging 1.00
X0018:Ttc17 UTSW 2 94,378,716 (GRCm38) missense probably damaging 1.00
X0025:Ttc17 UTSW 2 94,324,516 (GRCm38) missense possibly damaging 0.86
Posted On 2016-08-02