Incidental Mutation 'R1981:Ttc17'
ID 222260
Institutional Source Beutler Lab
Gene Symbol Ttc17
Ensembl Gene ENSMUSG00000027194
Gene Name tetratricopeptide repeat domain 17
Synonyms D2Bwg1005e, 9130020K17Rik
MMRRC Submission 039993-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.556) question?
Stock # R1981 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 94131112-94237034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94157049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 411 (N411S)
Ref Sequence ENSEMBL: ENSMUSP00000061360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055081] [ENSMUST00000094801] [ENSMUST00000111237] [ENSMUST00000111238]
AlphaFold E9PVB5
Predicted Effect probably benign
Transcript: ENSMUST00000055081
AA Change: N411S

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: N411S

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 benign
Transcript: ENSMUST00000094801
SMART Domains Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194

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 possibly damaging
Transcript: ENSMUST00000111237
AA Change: N927S

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: N927S

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 benign
Transcript: ENSMUST00000111238
AA Change: N984S

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N984S

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
Meta Mutation Damage Score 0.1385 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atad1 G T 19: 32,673,210 (GRCm39) D224E probably benign Het
Atp1a3 T G 7: 24,700,400 (GRCm39) E33A probably benign Het
Baz2b A G 2: 59,754,024 (GRCm39) F1100L possibly damaging Het
Car7 C T 8: 105,275,009 (GRCm39) probably benign Het
Casp8 C A 1: 58,868,121 (GRCm39) probably null Het
Cdh23 A T 10: 60,214,530 (GRCm39) L1495H probably damaging Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Col16a1 C G 4: 129,959,236 (GRCm39) P346A unknown Het
Cyp2c29 A G 19: 39,296,216 (GRCm39) probably null Het
Cyp3a13 T C 5: 137,910,118 (GRCm39) S139G probably damaging Het
Dapk2 A G 9: 66,176,180 (GRCm39) H327R probably benign Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dnah2 A G 11: 69,365,151 (GRCm39) Y1944H probably damaging Het
Dnai2 T A 11: 114,623,755 (GRCm39) V6E probably damaging Het
Eipr1 T C 12: 28,913,024 (GRCm39) Y242H probably damaging Het
Fam149a T G 8: 45,834,778 (GRCm39) D7A probably damaging Het
Fam217a T A 13: 35,100,737 (GRCm39) D140V probably benign Het
Fat4 G A 3: 39,045,813 (GRCm39) C3944Y probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Gcsam A T 16: 45,440,337 (GRCm39) T127S probably damaging Het
Git2 C T 5: 114,887,620 (GRCm39) probably benign Het
Gm1527 T C 3: 28,969,984 (GRCm39) probably null Het
Gtf3c1 A G 7: 125,243,444 (GRCm39) L1720P possibly damaging Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hat1 A G 2: 71,220,321 (GRCm39) T28A probably benign Het
Igf2r G A 17: 12,952,790 (GRCm39) Q219* probably null Het
Impdh1 T A 6: 29,206,450 (GRCm39) D129V possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Ltbp3 A G 19: 5,808,107 (GRCm39) Q1250R probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mast2 T C 4: 116,172,037 (GRCm39) Y569C probably damaging Het
Mcoln3 A T 3: 145,846,345 (GRCm39) K552* probably null Het
Mctp2 T C 7: 71,814,446 (GRCm39) Q601R probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Myo19 A T 11: 84,782,996 (GRCm39) Q170L possibly damaging Het
Myo1h T C 5: 114,491,898 (GRCm39) F676S probably damaging Het
Myo9a A G 9: 59,801,429 (GRCm39) T1876A probably benign Het
Nav3 G T 10: 109,554,951 (GRCm39) probably benign Het
Ndor1 T C 2: 25,145,236 (GRCm39) Y43C probably damaging Het
Nlrp1a A G 11: 70,989,764 (GRCm39) V1102A probably damaging Het
Nmnat3 T C 9: 98,292,352 (GRCm39) I199T possibly damaging Het
Nsun7 T C 5: 66,418,557 (GRCm39) S96P probably damaging Het
Ntng1 A G 3: 109,842,326 (GRCm39) V149A possibly damaging Het
Oas3 T C 5: 120,899,900 (GRCm39) probably benign Het
Or10v9 T G 19: 11,832,371 (GRCm39) Q315H possibly damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Or5bw2 A G 7: 6,573,557 (GRCm39) D189G probably benign Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Or8b3 T C 9: 38,315,031 (GRCm39) L287P probably damaging Het
Or8k53 A T 2: 86,177,486 (GRCm39) I208N possibly damaging Het
Pax2 G A 19: 44,806,904 (GRCm39) D301N probably damaging Het
Pcsk4 T A 10: 80,161,613 (GRCm39) E176V probably damaging Het
Pkhd1 G A 1: 20,187,284 (GRCm39) P3675S probably benign Het
Plekho2 A T 9: 65,465,974 (GRCm39) L138Q probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr11 T A 11: 86,994,116 (GRCm39) D100V probably damaging Het
Qars1 A G 9: 108,392,227 (GRCm39) N136D probably damaging Het
Rbm15b A G 9: 106,758,822 (GRCm39) probably benign Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rsrc1 A G 3: 67,257,338 (GRCm39) D250G probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Scn2a C A 2: 65,520,514 (GRCm39) N503K probably damaging Het
Sh2d6 G A 6: 72,494,527 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,157 (GRCm39) T475A probably benign Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Tbx20 T A 9: 24,682,209 (GRCm39) K48N possibly damaging Het
Tead1 C A 7: 112,490,952 (GRCm39) D231E probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tjp1 A T 7: 64,962,603 (GRCm39) F1111L probably damaging Het
Tlr11 T A 14: 50,599,445 (GRCm39) I477K possibly damaging Het
Ttc13 A G 8: 125,440,926 (GRCm39) probably null Het
Usp15 T A 10: 122,960,946 (GRCm39) probably benign Het
Usp18 A G 6: 121,229,476 (GRCm39) K32E probably benign Het
Vmn1r12 A T 6: 57,136,646 (GRCm39) M248L probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp930 T A 8: 69,680,824 (GRCm39) L172H probably damaging Het
Zfp976 G A 7: 42,263,046 (GRCm39) H264Y probably damaging Het
Other mutations in Ttc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ttc17 APN 2 94,153,428 (GRCm39) splice site probably benign
IGL00870:Ttc17 APN 2 94,202,078 (GRCm39) splice site probably null
IGL01120:Ttc17 APN 2 94,202,141 (GRCm39) missense probably damaging 1.00
IGL01845:Ttc17 APN 2 94,163,177 (GRCm39) nonsense probably null
IGL01895:Ttc17 APN 2 94,205,491 (GRCm39) missense possibly damaging 0.80
IGL02064:Ttc17 APN 2 94,161,012 (GRCm39) missense probably damaging 1.00
IGL02296:Ttc17 APN 2 94,208,055 (GRCm39) missense probably damaging 1.00
IGL02309:Ttc17 APN 2 94,173,006 (GRCm39) missense probably benign
IGL02456:Ttc17 APN 2 94,193,130 (GRCm39) splice site probably benign
IGL02475:Ttc17 APN 2 94,194,721 (GRCm39) missense probably damaging 1.00
IGL03341:Ttc17 APN 2 94,205,566 (GRCm39) missense probably damaging 1.00
IGL03371:Ttc17 APN 2 94,216,450 (GRCm39) missense probably damaging 1.00
R0389:Ttc17 UTSW 2 94,208,439 (GRCm39) missense probably benign 0.03
R0443:Ttc17 UTSW 2 94,208,439 (GRCm39) missense probably benign 0.03
R0511:Ttc17 UTSW 2 94,153,465 (GRCm39) missense possibly damaging 0.87
R0763:Ttc17 UTSW 2 94,163,148 (GRCm39) missense probably benign 0.08
R1980:Ttc17 UTSW 2 94,157,049 (GRCm39) missense probably benign 0.14
R1987:Ttc17 UTSW 2 94,194,690 (GRCm39) missense probably benign
R2064:Ttc17 UTSW 2 94,196,892 (GRCm39) missense probably damaging 1.00
R2147:Ttc17 UTSW 2 94,132,139 (GRCm39) missense possibly damaging 0.87
R2155:Ttc17 UTSW 2 94,196,987 (GRCm39) missense possibly damaging 0.88
R2844:Ttc17 UTSW 2 94,206,419 (GRCm39) nonsense probably null
R3719:Ttc17 UTSW 2 94,194,672 (GRCm39) missense probably benign 0.27
R3852:Ttc17 UTSW 2 94,199,758 (GRCm39) missense possibly damaging 0.86
R3947:Ttc17 UTSW 2 94,206,491 (GRCm39) splice site probably benign
R4411:Ttc17 UTSW 2 94,173,098 (GRCm39) missense probably damaging 0.97
R4461:Ttc17 UTSW 2 94,196,916 (GRCm39) missense probably benign 0.02
R4660:Ttc17 UTSW 2 94,194,774 (GRCm39) missense possibly damaging 0.51
R4762:Ttc17 UTSW 2 94,202,113 (GRCm39) missense probably damaging 1.00
R4818:Ttc17 UTSW 2 94,163,236 (GRCm39) missense possibly damaging 0.91
R4819:Ttc17 UTSW 2 94,194,955 (GRCm39) missense probably damaging 1.00
R4864:Ttc17 UTSW 2 94,196,980 (GRCm39) missense probably benign 0.01
R4870:Ttc17 UTSW 2 94,196,954 (GRCm39) missense probably damaging 1.00
R5203:Ttc17 UTSW 2 94,209,061 (GRCm39) missense probably damaging 1.00
R5288:Ttc17 UTSW 2 94,133,985 (GRCm39) missense probably damaging 1.00
R5385:Ttc17 UTSW 2 94,133,985 (GRCm39) missense probably damaging 1.00
R5386:Ttc17 UTSW 2 94,133,985 (GRCm39) missense probably damaging 1.00
R5453:Ttc17 UTSW 2 94,133,905 (GRCm39) missense probably damaging 1.00
R5583:Ttc17 UTSW 2 94,208,027 (GRCm39) missense probably damaging 1.00
R5683:Ttc17 UTSW 2 94,192,866 (GRCm39) missense probably damaging 1.00
R5921:Ttc17 UTSW 2 94,209,193 (GRCm39) missense probably damaging 1.00
R6272:Ttc17 UTSW 2 94,189,100 (GRCm39) missense probably damaging 1.00
R6444:Ttc17 UTSW 2 94,133,891 (GRCm39) missense possibly damaging 0.57
R6748:Ttc17 UTSW 2 94,216,447 (GRCm39) missense probably benign 0.02
R7204:Ttc17 UTSW 2 94,192,773 (GRCm39) missense possibly damaging 0.95
R7300:Ttc17 UTSW 2 94,205,479 (GRCm39) missense probably damaging 1.00
R7446:Ttc17 UTSW 2 94,205,495 (GRCm39) missense probably damaging 0.97
R7680:Ttc17 UTSW 2 94,196,889 (GRCm39) missense probably benign 0.06
R7912:Ttc17 UTSW 2 94,209,166 (GRCm39) missense probably damaging 1.00
R8083:Ttc17 UTSW 2 94,204,909 (GRCm39) missense probably damaging 1.00
R8304:Ttc17 UTSW 2 94,199,526 (GRCm39) intron probably benign
R8381:Ttc17 UTSW 2 94,132,166 (GRCm39) missense probably damaging 1.00
R8512:Ttc17 UTSW 2 94,202,108 (GRCm39) missense probably damaging 1.00
R8737:Ttc17 UTSW 2 94,206,374 (GRCm39) critical splice donor site probably null
R8850:Ttc17 UTSW 2 94,237,003 (GRCm39) missense possibly damaging 0.55
R8886:Ttc17 UTSW 2 94,205,473 (GRCm39) missense probably benign 0.19
R8888:Ttc17 UTSW 2 94,157,049 (GRCm39) missense probably benign 0.14
R8891:Ttc17 UTSW 2 94,192,764 (GRCm39) missense probably damaging 1.00
R9336:Ttc17 UTSW 2 94,189,198 (GRCm39) missense probably benign 0.00
R9600:Ttc17 UTSW 2 94,204,890 (GRCm39) missense probably damaging 1.00
R9632:Ttc17 UTSW 2 94,209,097 (GRCm39) missense probably damaging 1.00
R9642:Ttc17 UTSW 2 94,194,735 (GRCm39) missense probably benign 0.00
R9657:Ttc17 UTSW 2 94,237,010 (GRCm39) start codon destroyed probably benign 0.02
X0013:Ttc17 UTSW 2 94,161,015 (GRCm39) missense probably damaging 1.00
X0018:Ttc17 UTSW 2 94,209,061 (GRCm39) missense probably damaging 1.00
X0025:Ttc17 UTSW 2 94,154,861 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- CTGACTGACAGCTTGCAATGG -3'
(R):5'- GAAACAACTGCTTAGCTCCCATTC -3'

Sequencing Primer
(F):5'- GCACCTAGAACGGGGTCATTTATC -3'
(R):5'- CCTTTGTACTGTATCCATTCATGAC -3'
Posted On 2014-08-25