Incidental Mutation 'R9217:Ttc3'
ID 699277
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.597) question?
Stock # R9217 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94230467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 870 (I870K)
Ref Sequence ENSEMBL: ENSMUSP00000116097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000143145] [ENSMUST00000147046] [ENSMUST00000147352] [ENSMUST00000150346] [ENSMUST00000151770] [ENSMUST00000152117] [ENSMUST00000153988] [ENSMUST00000155692] [ENSMUST00000231569] [ENSMUST00000231850] [ENSMUST00000231915] [ENSMUST00000232395] [ENSMUST00000232660]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000117648
AA Change: I888K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: I888K

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 possibly damaging
Transcript: ENSMUST00000122895
AA Change: I870K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: I870K

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 possibly damaging
Transcript: ENSMUST00000147352
AA Change: I870K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
AA Change: I870K

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: ENSMUST00000150346
AA Change: I487K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785
AA Change: I487K

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 possibly damaging
Transcript: ENSMUST00000151770
AA Change: I888K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: I888K

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: ENSMUST00000152117
AA Change: I487K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
AA Change: I487K

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 possibly damaging
Transcript: ENSMUST00000155692
AA Change: I907K

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: I907K

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: I533K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000231850
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect probably damaging
Transcript: ENSMUST00000232395
AA Change: I888K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000232660
AA Change: I888K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.1199 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T C 6: 92,808,967 (GRCm39) V98A unknown Het
Abca15 A T 7: 119,987,439 (GRCm39) M1242L probably benign Het
Abcb9 G A 5: 124,214,090 (GRCm39) R576C possibly damaging Het
Abl2 A G 1: 156,452,902 (GRCm39) S146G probably damaging Het
Aga G A 8: 53,966,627 (GRCm39) G60S probably damaging Het
Amigo1 T A 3: 108,095,944 (GRCm39) V481D probably damaging Het
Ano5 C A 7: 51,243,415 (GRCm39) P846Q probably damaging Het
Ccdc62 C A 5: 124,092,470 (GRCm39) T485K probably benign Het
Cd177 A T 7: 24,445,550 (GRCm39) I631K possibly damaging Het
Chil6 T A 3: 106,313,411 (GRCm39) probably benign Het
Clip1 A G 5: 123,717,441 (GRCm39) S1283P probably damaging Het
Cpt1a G A 19: 3,425,111 (GRCm39) V493I probably benign Het
Dcbld1 T A 10: 52,138,028 (GRCm39) D97E probably benign Het
Decr1 G A 4: 15,930,969 (GRCm39) P121L probably damaging Het
Ehmt1 A T 2: 24,729,578 (GRCm39) L661Q probably benign Het
Eif2d A G 1: 131,085,972 (GRCm39) M156V possibly damaging Het
Ermn A T 2: 57,938,010 (GRCm39) I201K probably damaging Het
Etfbkmt T C 6: 149,045,663 (GRCm39) C6R probably benign Het
Evx2 A T 2: 74,488,109 (GRCm39) probably null Het
Fam222a T C 5: 114,748,905 (GRCm39) S34P probably benign Het
Fmo6 A T 1: 162,748,046 (GRCm39) D339E probably benign Het
Fubp1 T C 3: 151,923,873 (GRCm39) S142P probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gnb1 A T 4: 155,625,033 (GRCm39) Q75L probably damaging Het
Gucy2e C T 11: 69,126,778 (GRCm39) A232T possibly damaging Het
Haspin A T 11: 73,026,936 (GRCm39) C718S probably benign Het
Iqcd C T 5: 120,738,707 (GRCm39) P175L possibly damaging Het
Jph1 T A 1: 17,167,632 (GRCm39) Q66L probably benign Het
Kank1 G T 19: 25,386,944 (GRCm39) D206Y possibly damaging Het
Klf14 T C 6: 30,935,470 (GRCm39) T55A probably benign Het
Lclat1 T C 17: 73,494,879 (GRCm39) M125T probably damaging Het
Lgr5 T A 10: 115,423,349 (GRCm39) Q17L probably benign Het
Lrmda A G 14: 22,648,361 (GRCm39) I64V unknown Het
Lrrc15 A G 16: 30,092,415 (GRCm39) L308P probably damaging Het
Lyst C A 13: 13,871,245 (GRCm39) Q2661K probably benign Het
Map3k21 T A 8: 126,638,027 (GRCm39) D204E possibly damaging Het
Msln T C 17: 25,970,125 (GRCm39) I277V probably benign Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Nup153 G A 13: 46,835,138 (GRCm39) T1389M probably damaging Het
Or8c10 A G 9: 38,279,268 (GRCm39) Y132C probably damaging Het
Plcd1 T C 9: 118,901,723 (GRCm39) probably null Het
Plce1 C T 19: 38,748,551 (GRCm39) R1761C probably damaging Het
Prrc2b T C 2: 32,103,414 (GRCm39) L964P probably damaging Het
Prss43 T C 9: 110,656,564 (GRCm39) S84P possibly damaging Het
Rffl T C 11: 82,703,633 (GRCm39) T97A possibly damaging Het
Riok2 G C 17: 17,598,057 (GRCm39) G48A possibly damaging Het
Sec24a A G 11: 51,617,331 (GRCm39) M488T probably benign Het
Setdb2 C T 14: 59,646,881 (GRCm39) D545N possibly damaging Het
Slc39a4 T A 15: 76,498,126 (GRCm39) H400L possibly damaging Het
St7 T A 6: 17,846,271 (GRCm39) F175I probably damaging Het
Syne1 T A 10: 5,299,324 (GRCm39) D977V probably damaging Het
Tenm4 C T 7: 96,534,646 (GRCm39) T1801I probably damaging Het
Terf1 C T 1: 15,883,295 (GRCm39) T136I probably damaging Het
Tnnt1 T C 7: 4,513,381 (GRCm39) S42G probably benign Het
Trappc8 A G 18: 21,000,822 (GRCm39) V287A probably benign Het
Ttn A T 2: 76,574,389 (GRCm39) N25501K possibly damaging Het
Unc13c A T 9: 73,485,715 (GRCm39) W1662R probably damaging Het
Wdr47 T A 3: 108,525,890 (GRCm39) C138S probably damaging Het
Zfp458 A G 13: 67,408,298 (GRCm39) S6P probably damaging Het
Zfp668 A C 7: 127,465,804 (GRCm39) L460* 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
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
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
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'- CAGAATCCTGCAGTGCATAAAG -3'
(R):5'- AGTGATGCATTTAAGCCATCAC -3'

Sequencing Primer
(F):5'- GCAGAATGCTGACAAGATTAAATCTG -3'
(R):5'- TAAGCCATCACAAAGAATAAAACAGC -3'
Posted On 2022-02-07