Incidental Mutation 'IGL02203:Ttc3'
ID 284421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # IGL02203
Quality Score
Status
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 94219457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000139513] [ENSMUST00000141856] [ENSMUST00000143145] [ENSMUST00000147046] [ENSMUST00000147352] [ENSMUST00000151770] [ENSMUST00000145883] [ENSMUST00000152117] [ENSMUST00000153988] [ENSMUST00000155692] [ENSMUST00000150346] [ENSMUST00000231850] [ENSMUST00000231915] [ENSMUST00000150097] [ENSMUST00000231569] [ENSMUST00000232660] [ENSMUST00000232395]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000117648
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785

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: ENSMUST00000130960
Predicted Effect probably benign
Transcript: ENSMUST00000139513
SMART Domains Protein: ENSMUSP00000117881
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141856
SMART Domains Protein: ENSMUSP00000117369
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
Pfam:TPR_1 90 121 1e-6 PFAM
Pfam:TPR_2 90 121 7.9e-6 PFAM
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 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: ENSMUST00000145883
SMART Domains Protein: ENSMUSP00000123442
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
transmembrane domain 42 64 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 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: 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: ENSMUST00000150346
SMART Domains Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785

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 benign
Transcript: ENSMUST00000231850
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect probably benign
Transcript: ENSMUST00000150097
SMART Domains Protein: ENSMUSP00000119035
Gene: ENSMUSG00000040785

DomainStartEndE-ValueType
Blast:TPR 1 22 1e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000231569
Predicted Effect probably benign
Transcript: ENSMUST00000232660
Predicted Effect probably benign
Transcript: ENSMUST00000232395
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 121,973,457 (GRCm39) D1095A probably benign Het
Acmsd T C 1: 127,666,342 (GRCm39) probably benign Het
Ap5m1 G A 14: 49,317,715 (GRCm39) G324D probably damaging Het
Api5 T G 2: 94,255,419 (GRCm39) N252T probably benign Het
Arhgap45 T A 10: 79,863,387 (GRCm39) C743* probably null Het
Clpb A G 7: 101,428,544 (GRCm39) T435A probably damaging Het
Csmd3 C T 15: 47,713,073 (GRCm39) probably null Het
Cyp3a11 T G 5: 145,805,976 (GRCm39) R130S probably damaging Het
Dennd4c A G 4: 86,721,173 (GRCm39) T612A probably benign Het
Dipk1a A G 5: 108,059,647 (GRCm39) L57S probably benign Het
Eng A G 2: 32,561,498 (GRCm39) I170V probably benign Het
Gfra2 T A 14: 71,204,524 (GRCm39) M74K possibly damaging Het
Gpr137c A G 14: 45,514,944 (GRCm39) T268A possibly damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Il13ra2 A G X: 146,166,669 (GRCm39) L367P possibly damaging Het
Insr T C 8: 3,205,817 (GRCm39) H1324R probably benign Het
Lgi3 A G 14: 70,771,958 (GRCm39) E215G possibly damaging Het
Mst1r A G 9: 107,790,348 (GRCm39) T654A possibly damaging Het
Mst1r A G 9: 107,785,068 (GRCm39) Y242C probably damaging Het
Myo16 A T 8: 10,620,132 (GRCm39) Q1561L possibly damaging Het
Obscn A C 11: 58,973,134 (GRCm39) M2222R probably damaging Het
Or10ak13 A T 4: 118,639,626 (GRCm39) V52D possibly damaging Het
Or13p10 A T 4: 118,523,379 (GRCm39) I222F probably benign Het
Or2ag1 A G 7: 106,313,837 (GRCm39) I17T probably benign Het
Or5ap2 T G 2: 85,680,432 (GRCm39) F212C probably damaging Het
Or8b50 A G 9: 38,518,719 (GRCm39) probably benign Het
Plch1 G A 3: 63,606,160 (GRCm39) P1239L possibly damaging Het
Ptprm A T 17: 67,260,118 (GRCm39) I499K probably damaging Het
Rabep2 G T 7: 126,039,566 (GRCm39) R331L possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sema7a A G 9: 57,864,889 (GRCm39) T397A probably benign Het
Sftpc A C 14: 70,759,309 (GRCm39) M124R probably damaging Het
Slc25a38 A G 9: 119,949,878 (GRCm39) Y198C probably damaging Het
Sppl2a A T 2: 126,746,861 (GRCm39) M489K possibly damaging Het
Swt1 T A 1: 151,246,377 (GRCm39) K849N probably benign Het
Vmn2r63 A G 7: 42,553,432 (GRCm39) V608A probably benign Het
Vwf A G 6: 125,619,369 (GRCm39) Y1349C probably damaging Het
Ybx3 A G 6: 131,345,371 (GRCm39) V265A probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null 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
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 94,220,324 (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
Posted On 2015-04-16