Incidental Mutation 'R6564:Ttc3'
ID 522381
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 044688-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.597) question?
Stock # R6564 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94243470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1158 (C1158F)
Ref Sequence ENSEMBL: ENSMUSP00000156151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000143145] [ENSMUST00000147352] [ENSMUST00000151770] [ENSMUST00000152117] [ENSMUST00000155692] [ENSMUST00000232660] [ENSMUST00000232395] [ENSMUST00000231569] [ENSMUST00000231915]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000117648
AA Change: C1158F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: C1158F

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: C1140F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: C1140F

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 damaging
Transcript: ENSMUST00000147352
AA Change: C1117F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
AA Change: C1117F

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: C1157F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: C1157F

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: C757F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
AA Change: C757F

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: C1177F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: C1177F

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: ENSMUST00000232660
AA Change: C1158F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232395
AA Change: C1158F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231569
AA Change: C803F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect probably benign
Transcript: ENSMUST00000232368
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,613 (GRCm39) probably null Het
4931429L15Rik C A 9: 46,218,202 (GRCm39) D179Y probably damaging Het
Abca1 A T 4: 53,034,031 (GRCm39) L2233Q possibly damaging Het
Abca12 T A 1: 71,349,009 (GRCm39) E834V possibly damaging Het
Abcc9 T C 6: 142,548,834 (GRCm39) Y1318C probably damaging Het
Adam15 C A 3: 89,254,519 (GRCm39) R121L possibly damaging Het
Afdn T A 17: 14,116,351 (GRCm39) M1588K probably benign Het
Akap9 T C 5: 4,078,491 (GRCm39) S1849P probably damaging Het
Aoc1l1 T C 6: 48,954,509 (GRCm39) V549A probably benign Het
Bag6 T C 17: 35,359,347 (GRCm39) S213P probably damaging Het
Bpifb9a T C 2: 154,102,098 (GRCm39) V65A probably benign Het
Chn1 T A 2: 73,448,385 (GRCm39) I203F probably damaging Het
Crnkl1 T A 2: 145,770,165 (GRCm39) E226V possibly damaging Het
Cspg4 A G 9: 56,797,442 (GRCm39) E1302G probably benign Het
Dnah5 G T 15: 28,367,891 (GRCm39) A2759S probably benign Het
Dtx1 T A 5: 120,833,082 (GRCm39) T119S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ezr C T 17: 7,010,246 (GRCm39) V268M probably damaging Het
Fbxl15 T C 19: 46,317,777 (GRCm39) V153A probably damaging Het
Fkbpl C A 17: 34,865,240 (GRCm39) A336E probably benign Het
Gsg1l2 A G 11: 67,677,330 (GRCm39) T200A possibly damaging Het
H2ax T C 9: 44,246,209 (GRCm39) Y51H probably damaging Het
Ifi213 A C 1: 173,422,862 (GRCm39) M1R probably null Het
Kcnt1 A C 2: 25,801,063 (GRCm39) D1045A probably benign Het
Kdm4a C A 4: 118,034,636 (GRCm39) A32S probably benign Het
Klkb1 A T 8: 45,726,671 (GRCm39) V444E probably damaging Het
Mccc1 T C 3: 36,030,825 (GRCm39) T414A probably damaging Het
Miga1 A C 3: 151,990,959 (GRCm39) N367K probably damaging Het
Mmp7 A G 9: 7,695,185 (GRCm39) D49G probably benign Het
Nlrp1a A G 11: 71,014,398 (GRCm39) L284P probably damaging Het
Or7g33 G A 9: 19,448,506 (GRCm39) T240I possibly damaging Het
Or9s15 T C 1: 92,524,285 (GRCm39) S15P probably benign Het
Pbld1 T A 10: 62,907,806 (GRCm39) I224N possibly damaging Het
Pih1d1 A T 7: 44,809,243 (GRCm39) R276W probably damaging Het
Plekhg1 G T 10: 3,914,153 (GRCm39) V1292L probably damaging Het
Prex2 A G 1: 11,171,285 (GRCm39) probably null Het
Rbm6 T C 9: 107,710,697 (GRCm39) Y498C probably damaging Het
Reps1 T A 10: 17,998,140 (GRCm39) probably null Het
Ruvbl1 T A 6: 88,456,208 (GRCm39) I154N possibly damaging Het
Slc4a5 T G 6: 83,257,042 (GRCm39) F616V possibly damaging Het
Spag5 A T 11: 78,206,401 (GRCm39) T798S probably damaging Het
Spam1 T A 6: 24,796,355 (GRCm39) I102K possibly damaging Het
Sptbn2 C A 19: 4,782,052 (GRCm39) F430L probably damaging Het
Svs3a T A 2: 164,131,270 (GRCm39) I21K probably damaging Het
Tet3 T A 6: 83,363,052 (GRCm39) I842L possibly damaging Het
Tlr2 T A 3: 83,745,002 (GRCm39) K360N probably benign Het
Tmem45b C G 9: 31,339,301 (GRCm39) W138S probably damaging Het
Tpgs2 T C 18: 25,291,344 (GRCm39) E40G probably damaging Het
Traj40 T C 14: 54,415,399 (GRCm39) probably benign Het
Trpm5 A G 7: 142,626,507 (GRCm39) S125P probably damaging Het
Tubg1 T C 11: 101,011,715 (GRCm39) I74T probably damaging Het
Vav2 A T 2: 27,169,197 (GRCm39) probably null Het
Wbp4 G T 14: 79,704,868 (GRCm39) H201N probably damaging Het
Wdhd1 A G 14: 47,485,499 (GRCm39) S821P probably benign Het
Wsb2 A T 5: 117,508,625 (GRCm39) probably null Het
Zic5 A G 14: 122,696,833 (GRCm39) L594P unknown 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
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'- AGTAAAATACTTGCCTTGGGAGG -3'
(R):5'- ATCCTCAGACAGTGCTTCAGAC -3'

Sequencing Primer
(F):5'- TACTTGCCTTGGGAGGAAAAATCC -3'
(R):5'- GACAGTGCTTCAGACTTTACATCTGG -3'
Posted On 2018-06-06