Incidental Mutation 'R4676:Ttc3'
ID 349615
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 042013-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R4676 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94243620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 853 (P853Q)
Ref Sequence ENSEMBL: ENSMUSP00000156137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000143145] [ENSMUST00000147352] [ENSMUST00000151770] [ENSMUST00000152117] [ENSMUST00000231569] [ENSMUST00000232660] [ENSMUST00000232395] [ENSMUST00000231915] [ENSMUST00000155692]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000117648
AA Change: P1208Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: P1208Q

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 benign
Transcript: ENSMUST00000122895
SMART Domains Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785

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 noncoding transcript
Transcript: ENSMUST00000139607
Predicted Effect probably benign
Transcript: ENSMUST00000143145
Predicted Effect probably benign
Transcript: ENSMUST00000147352
SMART Domains Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785

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: ENSMUST00000151770
SMART Domains Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785

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 benign
Transcript: ENSMUST00000152117
SMART Domains Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785

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: ENSMUST00000231569
AA Change: P853Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232660
AA Change: P1208Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000232395
AA Change: P1208Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect probably benign
Transcript: ENSMUST00000155692
SMART Domains Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785

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 benign
Transcript: ENSMUST00000232368
Meta Mutation Damage Score 0.1167 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (93/95)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,078,382 (GRCm39) I13N probably damaging Het
Abcd3 T A 3: 121,567,815 (GRCm39) T409S possibly damaging Het
Acad12 C A 5: 121,745,234 (GRCm39) W317L probably damaging Het
Acap1 T A 11: 69,780,294 (GRCm39) M50L probably benign Het
Acvr1b T A 15: 101,100,867 (GRCm39) V343E probably damaging Het
Adgb C A 10: 10,302,454 (GRCm39) G371W probably damaging Het
Akap9 A G 5: 4,082,774 (GRCm39) K1966R probably damaging Het
Akap9 C T 5: 4,114,515 (GRCm39) Q48* probably null Het
Ano10 T C 9: 122,092,853 (GRCm39) R159G probably damaging Het
Anxa7 T C 14: 20,517,983 (GRCm39) M128V probably benign Het
Arhgef40 C A 14: 52,228,416 (GRCm39) C554* probably null Het
Atf6 T C 1: 170,614,979 (GRCm39) Y538C probably damaging Het
Atp8b1 A C 18: 64,671,749 (GRCm39) D1091E probably benign Het
BC034090 A G 1: 155,102,010 (GRCm39) Y85H possibly damaging Het
Bcas2 A G 3: 103,083,017 (GRCm39) probably benign Het
Bnc2 T C 4: 84,211,056 (GRCm39) N463D probably damaging Het
Capn7 A T 14: 31,081,216 (GRCm39) H411L possibly damaging Het
Cavin3 T C 7: 105,130,320 (GRCm39) E164G probably damaging Het
Ccdc191 T C 16: 43,759,536 (GRCm39) probably benign Het
Ccdc88b A G 19: 6,830,368 (GRCm39) V858A probably benign Het
Clcn3 A G 8: 61,383,685 (GRCm39) probably benign Het
Commd6 T C 14: 101,877,720 (GRCm39) probably benign Het
Cspg4b C A 13: 113,505,341 (GRCm39) L2157I probably damaging Het
Cspg4b T G 13: 113,505,342 (GRCm39) L2157R probably damaging Het
Cul3 G A 1: 80,249,391 (GRCm39) L561F probably damaging Het
Cyfip1 T A 7: 55,524,761 (GRCm39) I131N probably damaging Het
Dlgap3 T A 4: 127,127,554 (GRCm39) Y741N probably damaging Het
Dnaaf10 T C 11: 17,179,794 (GRCm39) V265A probably benign Het
Dnah5 A T 15: 28,295,406 (GRCm39) I1380F possibly damaging Het
Dync1h1 G T 12: 110,628,975 (GRCm39) L4177F probably damaging Het
Ethe1 G A 7: 24,307,319 (GRCm39) V178M probably damaging Het
Flnc A T 6: 29,445,153 (GRCm39) probably null Het
Get3 C T 8: 85,745,502 (GRCm39) A219T probably benign Het
Glt8d1 T C 14: 30,728,649 (GRCm39) F26L probably benign Het
Gm5493 T A 17: 22,967,054 (GRCm39) D63E probably benign Het
Gm9996 T A 10: 29,019,834 (GRCm39) probably benign Het
Gnl2 T G 4: 124,947,266 (GRCm39) S629R possibly damaging Het
Gpbp1l1 T C 4: 116,447,462 (GRCm39) S381P probably damaging Het
Igsf10 A C 3: 59,233,370 (GRCm39) F1788V probably benign Het
Inpp5d C A 1: 87,642,864 (GRCm39) P935Q probably damaging Het
Itch A C 2: 155,041,355 (GRCm39) I468L probably benign Het
Itga5 A T 15: 103,265,637 (GRCm39) Y192N probably damaging Het
Itih3 T A 14: 30,640,906 (GRCm39) Q302L probably null Het
Itih3 T A 14: 30,643,643 (GRCm39) Q121L possibly damaging Het
Kctd17 T A 15: 78,319,959 (GRCm39) probably benign Het
Lsm1 T C 8: 26,283,717 (GRCm39) L43P probably damaging Het
Magi3 A T 3: 103,923,141 (GRCm39) M1192K probably benign Het
Mecom A G 3: 30,322,817 (GRCm39) probably benign Het
Minar1 A G 9: 89,483,606 (GRCm39) V597A probably damaging Het
Mtmr3 A T 11: 4,477,855 (GRCm39) F63Y probably benign Het
Naa16 A G 14: 79,573,788 (GRCm39) probably benign Het
Neto1 A T 18: 86,416,427 (GRCm39) T45S possibly damaging Het
Nlrp4a A T 7: 26,149,654 (GRCm39) R420S probably damaging Het
Nr1h4 T C 10: 89,309,736 (GRCm39) D317G probably damaging Het
Or8b53 A G 9: 38,666,955 (GRCm39) probably benign Het
Or9i16 C T 19: 13,864,765 (GRCm39) D270N probably damaging Het
Or9q2 T A 19: 13,772,838 (GRCm39) I46F possibly damaging Het
Pde5a A T 3: 122,541,542 (GRCm39) M11L possibly damaging Het
Plxnb1 G A 9: 108,939,503 (GRCm39) R1416Q possibly damaging Het
Polm A T 11: 5,785,749 (GRCm39) Y141* probably null Het
Rxfp1 A G 3: 79,612,975 (GRCm39) F32L probably damaging Het
Scrt1 T A 15: 76,405,868 (GRCm39) D13V possibly damaging Het
Slc1a7 T A 4: 107,834,871 (GRCm39) V79E possibly damaging Het
Snurf T C 7: 59,645,270 (GRCm39) Q48R probably benign Het
Srek1 T C 13: 103,894,695 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,076,246 (GRCm39) S267G probably damaging Het
Taf5 C T 19: 47,063,409 (GRCm39) R320W probably damaging Het
Tars2 A T 3: 95,660,403 (GRCm39) N106K probably damaging Het
Tatdn3 A T 1: 190,781,531 (GRCm39) L207Q probably damaging Het
Tdrd6 T C 17: 43,938,501 (GRCm39) E849G probably damaging Het
Tedc2 T C 17: 24,438,985 (GRCm39) T111A probably benign Het
Tfg T A 16: 56,514,854 (GRCm39) probably null Het
Tgds A T 14: 118,353,643 (GRCm39) S225T probably benign Het
Tnks2 T A 19: 36,852,671 (GRCm39) Y134* probably null Het
Trappc1 T A 11: 69,216,356 (GRCm39) V134D probably damaging Het
Ttc7 C A 17: 87,678,163 (GRCm39) probably benign Het
Ttf1 A G 2: 28,964,606 (GRCm39) S643G probably damaging Het
Tubgcp3 A T 8: 12,700,171 (GRCm39) S338T probably damaging Het
Ugt1a6a T C 1: 88,067,007 (GRCm39) I271T possibly damaging Het
Vipas39 T A 12: 87,288,075 (GRCm39) Y445F probably damaging Het
Vmn1r31 A C 6: 58,448,998 (GRCm39) I289S probably damaging Het
Zfp112 A G 7: 23,825,685 (GRCm39) E551G probably damaging Het
Zfp397 T A 18: 24,093,854 (GRCm39) Y446* probably null Het
Zfp442 A T 2: 150,251,526 (GRCm39) H124Q probably 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
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 94,220,324 (GRCm39) missense probably damaging 1.00
R4885:Ttc3 UTSW 16 94,227,690 (GRCm39) critical splice donor site probably null
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
R5347:Ttc3 UTSW 16 94,230,479 (GRCm39) missense probably damaging 1.00
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'- CTCGACAGATACTGGAGAAGGC -3'
(R):5'- ATCCTCACAGAGTGGTGTAGGAG -3'

Sequencing Primer
(F):5'- CAGGAGGGCTGAAGTCGTTC -3'
(R):5'- AGTCAGGAGAGGCCACTTC -3'
Posted On 2015-10-08