Incidental Mutation 'R5739:Ttc3'
ID 444722
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 043351-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R5739 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 94240183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 1103 (K1103*)
Ref Sequence ENSEMBL: ENSMUSP00000156151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000122895] [ENSMUST00000143145] [ENSMUST00000147352] [ENSMUST00000150346] [ENSMUST00000151770] [ENSMUST00000152117] [ENSMUST00000155692] [ENSMUST00000232660] [ENSMUST00000232395] [ENSMUST00000231569] [ENSMUST00000231915]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000117648
AA Change: K1103*
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: K1103*

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 null
Transcript: ENSMUST00000122895
AA Change: K1085*
SMART Domains Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
AA Change: K1085*

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: 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 null
Transcript: ENSMUST00000151770
AA Change: K1102*
SMART Domains Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
AA Change: K1102*

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 null
Transcript: ENSMUST00000152117
AA Change: K702*
SMART Domains Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
AA Change: K702*

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 null
Transcript: ENSMUST00000155692
AA Change: K1122*
SMART Domains Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
AA Change: K1122*

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 null
Transcript: ENSMUST00000232660
AA Change: K1103*
Predicted Effect probably null
Transcript: ENSMUST00000232395
AA Change: K1103*
Predicted Effect probably benign
Transcript: ENSMUST00000232368
Predicted Effect probably null
Transcript: ENSMUST00000231569
AA Change: K748*
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,220,717 (GRCm39) S50T probably benign Het
A930011G23Rik A G 5: 99,369,289 (GRCm39) L529P probably damaging Het
Acer2 A T 4: 86,818,792 (GRCm39) N147Y probably damaging Het
Adamtsl1 A G 4: 86,150,901 (GRCm39) E353G probably damaging Het
Alg6 T C 4: 99,632,737 (GRCm39) F60L probably benign Het
Ano6 A T 15: 95,811,260 (GRCm39) D120V probably damaging Het
Armc3 A G 2: 19,258,728 (GRCm39) D265G possibly damaging Het
Aurkc A T 7: 7,005,859 (GRCm39) Y249F probably benign Het
Bmal1 G A 7: 112,884,238 (GRCm39) R92Q probably damaging Het
Cacna2d2 A G 9: 107,389,528 (GRCm39) I274V probably benign Het
Camk2n2 C A 16: 20,439,830 (GRCm39) G39C probably damaging Het
Ccdc39 A G 3: 33,880,710 (GRCm39) L419P possibly damaging Het
Cdh23 T C 10: 60,141,388 (GRCm39) M3117V probably damaging Het
Celsr3 A G 9: 108,704,357 (GRCm39) E280G probably benign Het
Cherp TGCTGGTGGTGGGG TG 8: 73,221,659 (GRCm39) probably benign Het
Clcn6 A G 4: 148,098,646 (GRCm39) V494A probably damaging Het
Col19a1 C T 1: 24,376,996 (GRCm39) G450S probably damaging Het
Crb2 T G 2: 37,683,666 (GRCm39) V1056G probably damaging Het
Crtac1 A G 19: 42,290,612 (GRCm39) F363S probably damaging Het
Dipk2a A T 9: 94,402,594 (GRCm39) V356E possibly damaging Het
Dnaaf2 T C 12: 69,243,715 (GRCm39) S449G probably benign Het
Dnah7b A T 1: 46,273,152 (GRCm39) I2427F probably damaging Het
Dnah8 T A 17: 30,937,981 (GRCm39) D1619E probably benign Het
Dock3 A T 9: 106,850,995 (GRCm39) S836T possibly damaging Het
Donson A T 16: 91,478,117 (GRCm39) probably null Het
Drc3 G A 11: 60,265,956 (GRCm39) R215H possibly damaging Het
Entpd2 T C 2: 25,289,504 (GRCm39) S329P possibly damaging Het
Eya2 T C 2: 165,603,857 (GRCm39) S332P probably damaging Het
Fam83f T A 15: 80,576,206 (GRCm39) Y286N probably damaging Het
Fat4 T C 3: 39,037,283 (GRCm39) V3645A probably benign Het
G2e3 T C 12: 51,419,287 (GRCm39) F668L possibly damaging Het
Gm14403 T A 2: 177,201,040 (GRCm39) C329S probably damaging Het
Hmcn1 G A 1: 150,684,448 (GRCm39) T374I probably benign Het
Hmcn1 A T 1: 150,634,225 (GRCm39) probably null Het
Hrnr T C 3: 93,230,436 (GRCm39) S225P unknown Het
Ifi202b C T 1: 173,798,918 (GRCm39) probably null Het
Il10ra A T 9: 45,167,368 (GRCm39) D394E possibly damaging Het
Itga2b A T 11: 102,356,735 (GRCm39) D275E probably benign Het
Jaml A T 9: 45,000,026 (GRCm39) D108V probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrrtm1 T C 6: 77,221,872 (GRCm39) V443A probably damaging Het
Mkln1 T A 6: 31,473,637 (GRCm39) S126R probably benign Het
Myo19 T C 11: 84,788,450 (GRCm39) I354T probably damaging Het
Nucb1 A T 7: 45,151,084 (GRCm39) L99Q probably damaging Het
Or4f59 A G 2: 111,873,128 (GRCm39) F83S probably damaging Het
Pask A G 1: 93,249,778 (GRCm39) S541P probably benign Het
Pdpr A T 8: 111,861,252 (GRCm39) I749F possibly damaging Het
Pgap6 T A 17: 26,339,425 (GRCm39) F580I probably damaging Het
Phyhipl T C 10: 70,395,399 (GRCm39) D269G possibly damaging Het
Pkdcc A G 17: 83,523,223 (GRCm39) D110G probably benign Het
Ppox A G 1: 171,107,570 (GRCm39) L115P probably damaging Het
Ppp1r12c A G 7: 4,500,281 (GRCm39) L94P probably damaging Het
Ppp6r2 T A 15: 89,143,276 (GRCm39) M141K probably benign Het
Prl3d1 A T 13: 27,283,995 (GRCm39) H188L probably benign Het
Psmb3 T A 11: 97,604,296 (GRCm39) probably benign Het
Pxdn T A 12: 30,032,333 (GRCm39) S150T probably benign Het
Ripor3 T C 2: 167,823,203 (GRCm39) T903A probably damaging Het
Rnase4 T C 14: 51,342,306 (GRCm39) L10S probably benign Het
Rnf224 T C 2: 25,126,012 (GRCm39) T114A probably benign Het
Rp1l1 A T 14: 64,269,619 (GRCm39) E1735V probably benign Het
Rrp1b T A 17: 32,264,950 (GRCm39) Y60N probably damaging Het
Rsbn1l A T 5: 21,110,814 (GRCm39) V508E probably damaging Het
Rubcnl T C 14: 75,278,381 (GRCm39) probably null Het
Rxfp4 A G 3: 88,559,209 (GRCm39) probably benign Het
Sdccag8 A G 1: 176,653,797 (GRCm39) T85A probably benign Het
Slc46a1 A T 11: 78,357,975 (GRCm39) I343F possibly damaging Het
Ssh2 A G 11: 77,340,639 (GRCm39) D597G probably damaging Het
Syne2 T A 12: 76,044,239 (GRCm39) V3942E possibly damaging Het
Timd4 T C 11: 46,708,573 (GRCm39) S200P probably benign Het
Tmc5 G A 7: 118,265,834 (GRCm39) probably null Het
Trbv16 A G 6: 41,129,013 (GRCm39) T66A probably benign Het
Ttc7b A G 12: 100,350,492 (GRCm39) V458A probably damaging Het
Ubxn10 A G 4: 138,448,134 (GRCm39) S181P probably benign Het
Vmn2r11 A G 5: 109,207,114 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,002,925 (GRCm39) N112Y probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zc3h10 T C 10: 128,380,670 (GRCm39) N229S probably benign Het
Zfp407 T C 18: 84,226,867 (GRCm39) *2247W probably null Het
Zfyve1 C A 12: 83,621,910 (GRCm39) V162L 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
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
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'- TCTCCAGTCTCTTCATGTGCAA -3'
(R):5'- AACTTTGTGAAATACATGGCAAAAGT -3'

Sequencing Primer
(F):5'- TTCTGCAGGACCATTTGC -3'
(R):5'- GGCAAAAGTTCTGAACATTTTCCCC -3'
Posted On 2016-11-21