Incidental Mutation 'R5347:Ttc3'
ID 422703
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 042926-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R5347 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94230479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 892 (V892D)
Ref Sequence ENSEMBL: ENSMUSP00000156151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000143145] [ENSMUST00000147046] [ENSMUST00000147352] [ENSMUST00000151770] [ENSMUST00000150346] [ENSMUST00000152117] [ENSMUST00000155692] [ENSMUST00000231569] [ENSMUST00000232395] [ENSMUST00000232660] [ENSMUST00000153988] [ENSMUST00000231850] [ENSMUST00000231915]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101881
Predicted Effect probably damaging
Transcript: ENSMUST00000117648
AA Change: V892D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: V892D

DomainStartEndE-ValueType
TPR 231 264 3.61e-2 SMART
TPR 265 298 3.32e-1 SMART
Blast:TPR 300 332 2e-12 BLAST
low complexity region 444 459 N/A INTRINSIC
TPR 576 609 2.55e-2 SMART
low complexity region 720 732 N/A INTRINSIC
coiled coil region 765 796 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
low complexity region 1036 1050 N/A INTRINSIC
low complexity region 1170 1190 N/A INTRINSIC
low complexity region 1248 1260 N/A INTRINSIC
low complexity region 1278 1291 N/A INTRINSIC
coiled coil region 1472 1570 N/A INTRINSIC
low complexity region 1876 1887 N/A INTRINSIC
RING 1931 1970 7e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122895
AA Change: V874D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: V874D

DomainStartEndE-ValueType
TPR 213 246 3.61e-2 SMART
TPR 247 280 3.32e-1 SMART
Blast:TPR 282 314 3e-12 BLAST
low complexity region 426 441 N/A INTRINSIC
TPR 558 591 2.55e-2 SMART
low complexity region 702 714 N/A INTRINSIC
coiled coil region 747 778 N/A INTRINSIC
low complexity region 1000 1014 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141176
SMART Domains Protein: ENSMUSP00000114483
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
coiled coil region 72 103 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143145
Predicted Effect probably benign
Transcript: ENSMUST00000147046
SMART Domains Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
Pfam:TPR_1 175 206 5.3e-6 PFAM
low complexity region 319 331 N/A INTRINSIC
low complexity region 359 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000147352
AA Change: V874D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
AA Change: V874D

DomainStartEndE-ValueType
TPR 213 246 3.61e-2 SMART
TPR 247 280 3.32e-1 SMART
Blast:TPR 282 314 3e-12 BLAST
low complexity region 426 441 N/A INTRINSIC
TPR 558 591 2.55e-2 SMART
low complexity region 702 714 N/A INTRINSIC
coiled coil region 747 778 N/A INTRINSIC
low complexity region 1000 1014 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151770
AA Change: V892D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: V892D

DomainStartEndE-ValueType
TPR 231 264 3.61e-2 SMART
TPR 265 298 3.32e-1 SMART
Blast:TPR 300 332 3e-12 BLAST
low complexity region 444 459 N/A INTRINSIC
TPR 576 609 2.55e-2 SMART
low complexity region 720 732 N/A INTRINSIC
coiled coil region 765 796 N/A INTRINSIC
low complexity region 1018 1032 N/A INTRINSIC
low complexity region 1036 1050 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150346
AA Change: V491D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785
AA Change: V491D

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
Pfam:TPR_1 175 206 9.6e-6 PFAM
low complexity region 319 331 N/A INTRINSIC
coiled coil region 364 395 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152117
AA Change: V491D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
AA Change: V491D

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
SCOP:d1ihga1 69 201 6e-8 SMART
Blast:TPR 175 208 1e-14 BLAST
low complexity region 319 331 N/A INTRINSIC
coiled coil region 364 395 N/A INTRINSIC
low complexity region 617 631 N/A INTRINSIC
low complexity region 635 649 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155692
AA Change: V911D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: V911D

DomainStartEndE-ValueType
TPR 250 283 3.61e-2 SMART
TPR 284 317 3.32e-1 SMART
Blast:TPR 319 351 3e-12 BLAST
low complexity region 463 478 N/A INTRINSIC
TPR 595 628 2.55e-2 SMART
low complexity region 739 751 N/A INTRINSIC
coiled coil region 784 815 N/A INTRINSIC
low complexity region 1037 1051 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000231569
AA Change: V537D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232395
AA Change: V892D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232660
AA Change: V892D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000153988
SMART Domains Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
Blast:TPR 1 22 3e-6 BLAST
low complexity region 134 149 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231850
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,782,166 (GRCm39) Y233C probably damaging Het
Agl A G 3: 116,584,814 (GRCm39) S169P probably damaging Het
Arid1b C T 17: 5,341,332 (GRCm39) Q879* probably null Het
Bbs2 A G 8: 94,819,178 (GRCm39) S64P probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Cacna2d2 A G 9: 107,391,313 (GRCm39) T447A probably benign Het
Ccdc168 T A 1: 44,096,955 (GRCm39) Y1381F probably benign Het
Ccdc169 A T 3: 55,049,740 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,546 (GRCm39) S275P possibly damaging Het
Cdh15 A G 8: 123,588,802 (GRCm39) N292S probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnnm1 A G 19: 43,430,301 (GRCm39) H473R probably benign Het
Cplx4 G A 18: 66,103,157 (GRCm39) probably benign Het
Crb1 C T 1: 139,265,109 (GRCm39) G103E probably damaging Het
Dnaja3 T A 16: 4,512,346 (GRCm39) V250E possibly damaging Het
Dync2h1 T G 9: 7,129,727 (GRCm39) Q1757P probably damaging Het
Edem3 A G 1: 151,683,202 (GRCm39) Q626R probably damaging Het
Eif2b1 T C 5: 124,716,862 (GRCm39) probably benign Het
Esf1 T A 2: 139,996,801 (GRCm39) K521* probably null Het
Fbxl3 A C 14: 103,320,730 (GRCm39) V239G probably damaging Het
Fhip2a A G 19: 57,367,051 (GRCm39) D198G probably benign Het
Fto A G 8: 92,118,107 (GRCm39) probably benign Het
Gm5773 T C 3: 93,681,090 (GRCm39) L254P probably damaging Het
Gm5916 A T 9: 36,032,012 (GRCm39) W91R probably benign Het
Gpam A T 19: 55,077,269 (GRCm39) L174H probably damaging Het
Grk1 G A 8: 13,464,478 (GRCm39) R450Q probably damaging Het
Hc G A 2: 34,927,636 (GRCm39) A326V probably benign Het
Hectd4 T C 5: 121,442,511 (GRCm39) I1317T probably benign Het
Hlcs A G 16: 94,068,383 (GRCm39) V426A possibly damaging Het
Ighv1-23 T C 12: 114,728,376 (GRCm39) probably benign Het
Itgax G A 7: 127,740,474 (GRCm39) V754I probably benign Het
Krt24 T A 11: 99,173,556 (GRCm39) D255V probably damaging Het
Lnpk T C 2: 74,403,935 (GRCm39) probably benign Het
Loxhd1 G T 18: 77,454,237 (GRCm39) R478L probably damaging Het
Lrrc56 A G 7: 140,789,537 (GRCm39) Q518R probably benign Het
Mbl1 A T 14: 40,880,786 (GRCm39) I225F probably damaging Het
Mmp21 T C 7: 133,277,651 (GRCm39) S392G probably benign Het
Mug2 T G 6: 122,058,551 (GRCm39) F1318V probably damaging Het
Myo5c A G 9: 75,202,487 (GRCm39) N1447S probably null Het
Nbea A C 3: 55,948,297 (GRCm39) V543G probably damaging Het
Necap1 A G 6: 122,857,706 (GRCm39) I96V probably benign Het
Nr3c2 T A 8: 77,937,377 (GRCm39) M872K possibly damaging Het
Nrf1 C T 6: 30,118,967 (GRCm39) T362M probably benign Het
Or14j2 T C 17: 37,885,618 (GRCm39) E232G probably damaging Het
Pcare A G 17: 72,056,930 (GRCm39) S916P probably benign Het
Plekhm3 T C 1: 64,859,149 (GRCm39) E685G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sbk3 A T 7: 4,970,422 (GRCm39) S316T probably benign Het
Serpinb9e T C 13: 33,441,767 (GRCm39) L233P probably damaging Het
Set T A 2: 29,959,422 (GRCm39) S132T possibly damaging Het
Slc17a4 C T 13: 24,092,800 (GRCm39) E11K possibly damaging Het
Slc22a6 T A 19: 8,595,917 (GRCm39) N86K possibly damaging Het
Slco1a6 A G 6: 142,032,325 (GRCm39) L600P probably damaging Het
Sp8 A G 12: 118,812,246 (GRCm39) K34E possibly damaging Het
Spen T A 4: 141,198,796 (GRCm39) E3254V probably benign Het
Tcf12 G A 9: 71,792,525 (GRCm39) P53S probably damaging Het
Tcf3 A G 10: 80,246,045 (GRCm39) V626A probably damaging Het
Trpc4ap A G 2: 155,514,908 (GRCm39) probably null Het
Tub G T 7: 108,625,978 (GRCm39) R243L possibly damaging Het
Tubgcp5 A G 7: 55,473,433 (GRCm39) Y837C probably damaging Het
Utp25 A T 1: 192,810,687 (GRCm39) D105E probably benign Het
Wdhd1 A T 14: 47,506,181 (GRCm39) Y244* probably null Het
Xdh T A 17: 74,232,027 (GRCm39) T228S probably benign Het
Zfp418 A C 7: 7,185,534 (GRCm39) Q499P probably benign Het
Zfpm1 G A 8: 123,062,269 (GRCm39) E443K possibly damaging Het
Zfy1 T C Y: 725,950 (GRCm39) H605R possibly damaging Het
Other mutations in Ttc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Ttc3 APN 16 94,227,620 (GRCm39) splice site probably null
IGL00979:Ttc3 APN 16 94,257,577 (GRCm39) missense probably damaging 1.00
IGL01520:Ttc3 APN 16 94,191,066 (GRCm39) missense probably benign 0.04
IGL01663:Ttc3 APN 16 94,210,590 (GRCm39) critical splice donor site probably null
IGL01720:Ttc3 APN 16 94,186,228 (GRCm39) missense probably damaging 0.99
IGL01736:Ttc3 APN 16 94,243,386 (GRCm39) missense probably damaging 0.99
IGL02045:Ttc3 APN 16 94,210,540 (GRCm39) splice site probably benign
IGL02203:Ttc3 APN 16 94,219,457 (GRCm39) splice site probably benign
IGL02327:Ttc3 APN 16 94,248,967 (GRCm39) missense probably damaging 1.00
IGL02794:Ttc3 APN 16 94,268,785 (GRCm39) missense probably damaging 1.00
IGL02898:Ttc3 APN 16 94,220,285 (GRCm39) missense probably damaging 1.00
PIT4378001:Ttc3 UTSW 16 94,211,765 (GRCm39) missense probably benign 0.01
R0064:Ttc3 UTSW 16 94,223,106 (GRCm39) missense possibly damaging 0.79
R0098:Ttc3 UTSW 16 94,191,124 (GRCm39) missense probably benign 0.02
R0112:Ttc3 UTSW 16 94,186,181 (GRCm39) splice site probably benign
R0135:Ttc3 UTSW 16 94,263,127 (GRCm39) missense possibly damaging 0.92
R0480:Ttc3 UTSW 16 94,232,863 (GRCm39) nonsense probably null
R0513:Ttc3 UTSW 16 94,227,071 (GRCm39) missense probably damaging 1.00
R0532:Ttc3 UTSW 16 94,188,189 (GRCm39) splice site probably benign
R0607:Ttc3 UTSW 16 94,257,644 (GRCm39) nonsense probably null
R0742:Ttc3 UTSW 16 94,260,739 (GRCm39) missense probably benign 0.23
R0905:Ttc3 UTSW 16 94,257,648 (GRCm39) nonsense probably null
R1118:Ttc3 UTSW 16 94,217,127 (GRCm39) splice site probably benign
R1355:Ttc3 UTSW 16 94,219,496 (GRCm39) missense possibly damaging 0.46
R1370:Ttc3 UTSW 16 94,219,496 (GRCm39) missense possibly damaging 0.46
R1486:Ttc3 UTSW 16 94,248,988 (GRCm39) missense probably damaging 1.00
R1598:Ttc3 UTSW 16 94,223,156 (GRCm39) missense probably damaging 1.00
R1641:Ttc3 UTSW 16 94,244,176 (GRCm39) missense probably benign 0.19
R2092:Ttc3 UTSW 16 94,243,691 (GRCm39) missense probably benign 0.02
R2232:Ttc3 UTSW 16 94,260,831 (GRCm39) missense probably benign 0.00
R2339:Ttc3 UTSW 16 94,232,857 (GRCm39) missense probably damaging 1.00
R2342:Ttc3 UTSW 16 94,232,857 (GRCm39) missense probably damaging 1.00
R2842:Ttc3 UTSW 16 94,232,857 (GRCm39) missense probably damaging 1.00
R3117:Ttc3 UTSW 16 94,243,422 (GRCm39) missense possibly damaging 0.51
R4194:Ttc3 UTSW 16 94,223,136 (GRCm39) missense probably damaging 0.99
R4329:Ttc3 UTSW 16 94,267,820 (GRCm39) missense probably damaging 1.00
R4431:Ttc3 UTSW 16 94,211,817 (GRCm39) critical splice donor site probably null
R4530:Ttc3 UTSW 16 94,267,736 (GRCm39) intron probably benign
R4531:Ttc3 UTSW 16 94,267,736 (GRCm39) intron probably benign
R4532:Ttc3 UTSW 16 94,267,736 (GRCm39) intron probably benign
R4533:Ttc3 UTSW 16 94,267,736 (GRCm39) intron probably benign
R4588:Ttc3 UTSW 16 94,243,760 (GRCm39) missense probably benign 0.01
R4625:Ttc3 UTSW 16 94,189,131 (GRCm39) nonsense probably null
R4676:Ttc3 UTSW 16 94,243,620 (GRCm39) missense probably damaging 1.00
R4700:Ttc3 UTSW 16 94,240,100 (GRCm39) splice site probably null
R4856:Ttc3 UTSW 16 94,191,142 (GRCm39) missense probably benign 0.32
R4867:Ttc3 UTSW 16 94,255,374 (GRCm39) missense probably damaging 0.96
R4885:Ttc3 UTSW 16 94,227,690 (GRCm39) critical splice donor site probably null
R4885:Ttc3 UTSW 16 94,220,324 (GRCm39) missense probably damaging 1.00
R4899:Ttc3 UTSW 16 94,230,314 (GRCm39) missense probably damaging 1.00
R4997:Ttc3 UTSW 16 94,253,841 (GRCm39) missense probably damaging 1.00
R5023:Ttc3 UTSW 16 94,230,218 (GRCm39) missense probably benign 0.01
R5105:Ttc3 UTSW 16 94,267,793 (GRCm39) missense possibly damaging 0.94
R5205:Ttc3 UTSW 16 94,248,918 (GRCm39) missense probably benign 0.07
R5287:Ttc3 UTSW 16 94,260,703 (GRCm39) missense probably benign 0.00
R5338:Ttc3 UTSW 16 94,184,900 (GRCm39) missense probably damaging 0.99
R5403:Ttc3 UTSW 16 94,260,703 (GRCm39) missense probably benign 0.00
R5460:Ttc3 UTSW 16 94,258,241 (GRCm39) missense probably benign 0.32
R5739:Ttc3 UTSW 16 94,240,183 (GRCm39) nonsense probably null
R6242:Ttc3 UTSW 16 94,243,554 (GRCm39) missense probably benign 0.04
R6253:Ttc3 UTSW 16 94,258,272 (GRCm39) critical splice donor site probably null
R6455:Ttc3 UTSW 16 94,219,482 (GRCm39) start codon destroyed probably null 0.83
R6559:Ttc3 UTSW 16 94,223,208 (GRCm39) critical splice donor site probably null
R6564:Ttc3 UTSW 16 94,243,470 (GRCm39) missense probably damaging 1.00
R6932:Ttc3 UTSW 16 94,244,312 (GRCm39) missense probably benign
R7331:Ttc3 UTSW 16 94,195,218 (GRCm39) missense probably benign 0.27
R7497:Ttc3 UTSW 16 94,219,541 (GRCm39) missense possibly damaging 0.93
R7610:Ttc3 UTSW 16 94,228,697 (GRCm39) missense probably benign 0.11
R7738:Ttc3 UTSW 16 94,188,241 (GRCm39) missense probably benign 0.00
R7970:Ttc3 UTSW 16 94,258,223 (GRCm39) missense probably damaging 1.00
R8052:Ttc3 UTSW 16 94,268,848 (GRCm39) missense probably benign 0.09
R8087:Ttc3 UTSW 16 94,243,812 (GRCm39) missense probably benign 0.00
R8309:Ttc3 UTSW 16 94,267,838 (GRCm39) missense probably damaging 1.00
R8320:Ttc3 UTSW 16 94,219,535 (GRCm39) missense probably damaging 1.00
R8322:Ttc3 UTSW 16 94,255,351 (GRCm39) missense probably damaging 1.00
R8518:Ttc3 UTSW 16 94,258,238 (GRCm39) missense probably benign 0.21
R8670:Ttc3 UTSW 16 94,191,067 (GRCm39) missense probably damaging 0.99
R8826:Ttc3 UTSW 16 94,232,829 (GRCm39) missense possibly damaging 0.85
R8868:Ttc3 UTSW 16 94,252,002 (GRCm39) missense probably benign 0.00
R8873:Ttc3 UTSW 16 94,243,842 (GRCm39) missense probably damaging 0.97
R8940:Ttc3 UTSW 16 94,230,358 (GRCm39) missense possibly damaging 0.94
R8993:Ttc3 UTSW 16 94,228,667 (GRCm39) missense possibly damaging 0.85
R9068:Ttc3 UTSW 16 94,204,219 (GRCm39) missense probably damaging 1.00
R9119:Ttc3 UTSW 16 94,192,950 (GRCm39) missense probably damaging 0.98
R9124:Ttc3 UTSW 16 94,236,389 (GRCm39) missense probably benign 0.00
R9129:Ttc3 UTSW 16 94,185,208 (GRCm39) missense probably benign 0.02
R9189:Ttc3 UTSW 16 94,268,831 (GRCm39) missense possibly damaging 0.62
R9217:Ttc3 UTSW 16 94,230,467 (GRCm39) missense possibly damaging 0.80
R9490:Ttc3 UTSW 16 94,245,360 (GRCm39) missense probably benign
R9564:Ttc3 UTSW 16 94,248,918 (GRCm39) missense probably benign 0.07
R9631:Ttc3 UTSW 16 94,171,581 (GRCm39) intron probably benign
X0022:Ttc3 UTSW 16 94,243,384 (GRCm39) missense probably benign 0.00
Y5378:Ttc3 UTSW 16 94,212,988 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGACAGAATCCTGCAGTGC -3'
(R):5'- GTGATGCATTTAAGCCATCACAAAG -3'

Sequencing Primer
(F):5'- GAATCCTGCAGTGCATAAAGC -3'
(R):5'- TAAGCCATCACAAAGAATAAAACAGC -3'
Posted On 2016-08-04