Incidental Mutation 'R4997:Ttc3'
ID 385390
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 042591-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R4997 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 94253841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1221 (D1221E)
Ref Sequence ENSEMBL: ENSMUSP00000156137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000154196] [ENSMUST00000231569] [ENSMUST00000231915] [ENSMUST00000232660] [ENSMUST00000232395]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000117648
AA Change: D1576E

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: D1576E

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 noncoding transcript
Transcript: ENSMUST00000139607
Predicted Effect unknown
Transcript: ENSMUST00000141192
AA Change: D17E
Predicted Effect probably benign
Transcript: ENSMUST00000154196
Predicted Effect probably damaging
Transcript: ENSMUST00000231569
AA Change: D1221E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect unknown
Transcript: ENSMUST00000232368
AA Change: D200E
Predicted Effect possibly damaging
Transcript: ENSMUST00000232660
AA Change: D1576E

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232395
AA Change: D1576E

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik A T 14: 33,775,623 (GRCm39) M1L probably benign Het
Abca7 C A 10: 79,843,154 (GRCm39) Q1210K possibly damaging Het
Abcc4 C T 14: 118,753,915 (GRCm39) W1024* probably null Het
Accs A T 2: 93,672,228 (GRCm39) Y213* probably null Het
Adam6a G T 12: 113,508,991 (GRCm39) G455C probably damaging Het
Adcy1 A C 11: 7,111,298 (GRCm39) Y863S probably benign Het
Adgrg1 A G 8: 95,736,148 (GRCm39) D434G probably damaging Het
Afap1l1 C T 18: 61,884,879 (GRCm39) R202Q probably benign Het
Aldh3a1 T C 11: 61,103,137 (GRCm39) V27A probably benign Het
Antxr2 A G 5: 98,125,553 (GRCm39) F235L probably benign Het
Arhgap23 T A 11: 97,342,846 (GRCm39) V376E probably damaging Het
Brca1 A C 11: 101,415,159 (GRCm39) S992A probably damaging Het
Brcc3dc A G 10: 108,535,649 (GRCm39) I102T probably benign Het
Calcrl A T 2: 84,181,592 (GRCm39) C185* probably null Het
Cep152 T C 2: 125,428,271 (GRCm39) T787A probably benign Het
Coch T A 12: 51,649,964 (GRCm39) probably null Het
Col5a1 T A 2: 27,922,794 (GRCm39) Y287* probably null Het
Dis3l A G 9: 64,219,224 (GRCm39) S569P possibly damaging Het
Dnai1 A G 4: 41,597,919 (GRCm39) I74V possibly damaging Het
Dpy19l4 A G 4: 11,287,493 (GRCm39) V394A probably benign Het
Egfem1 A G 3: 29,207,739 (GRCm39) H122R probably benign Het
Endou A G 15: 97,617,458 (GRCm39) L164P probably damaging Het
Epgn A G 5: 91,180,098 (GRCm39) E80G possibly damaging Het
Fcgbpl1 T G 7: 27,843,349 (GRCm39) S746A possibly damaging Het
Fitm1 T C 14: 55,814,364 (GRCm39) S287P probably benign Het
Foxm1 A G 6: 128,342,731 (GRCm39) N22D probably benign Het
Gsdmc A T 15: 63,648,629 (GRCm39) M426K probably damaging Het
Hmcn2 T A 2: 31,291,720 (GRCm39) V2418D probably damaging Het
Hs3st2 T A 7: 121,099,679 (GRCm39) L175Q possibly damaging Het
Il1r2 T C 1: 40,160,206 (GRCm39) probably null Het
Il27ra A T 8: 84,766,156 (GRCm39) Y209* probably null Het
Inpp5a A T 7: 138,980,654 (GRCm39) S31C probably benign Het
Invs A G 4: 48,396,332 (GRCm39) D335G probably damaging Het
Isg15 C T 4: 156,284,154 (GRCm39) E125K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama4 C A 10: 38,968,262 (GRCm39) T1468K probably damaging Het
Lce1a2 A G 3: 92,576,395 (GRCm39) S56P unknown Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lmf1 G A 17: 25,807,650 (GRCm39) W164* probably null Het
Mad2l1bp G T 17: 46,463,804 (GRCm39) C73* probably null Het
Mpzl1 A C 1: 165,429,350 (GRCm39) V230G probably damaging Het
Myo3b A G 2: 70,088,427 (GRCm39) T869A possibly damaging Het
Ncor2 T C 5: 125,111,074 (GRCm39) H1316R probably damaging Het
Nlrp1b T A 11: 71,109,160 (GRCm39) I114F probably damaging Het
Nsun7 A G 5: 66,453,182 (GRCm39) I632M probably benign Het
Nubp1 T C 16: 10,239,185 (GRCm39) I234T probably benign Het
Olfml1 A G 7: 107,170,413 (GRCm39) D100G probably damaging Het
Or1e1b-ps1 T A 11: 73,845,612 (GRCm39) L32Q probably damaging Het
Or5p73 C A 7: 108,064,701 (GRCm39) Q57K probably benign Het
Or7g23 A T 9: 19,086,627 (GRCm39) L115Q probably damaging Het
Osmr G T 15: 6,845,120 (GRCm39) P882Q probably benign Het
Peg10 TCAGGATCC TCAGGATCCCCAGCAGGATCC 6: 4,756,457 (GRCm39) probably benign Het
Per2 T A 1: 91,378,505 (GRCm39) T15S probably benign Het
Piezo2 A G 18: 63,216,184 (GRCm39) Y1184H probably damaging Het
Pik3c2b C T 1: 133,032,819 (GRCm39) A1560V probably damaging Het
Pik3cd A C 4: 149,743,441 (GRCm39) L256R probably damaging Het
Ppl C A 16: 4,907,235 (GRCm39) R1020L probably damaging Het
Ppp1r10 A G 17: 36,234,976 (GRCm39) N60S probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prkci T C 3: 31,085,375 (GRCm39) probably null Het
Prrc2b A G 2: 32,112,323 (GRCm39) Y1929C probably damaging Het
Prss12 T C 3: 123,240,857 (GRCm39) V17A probably benign Het
Qtrt1 A G 9: 21,328,654 (GRCm39) N206S probably benign Het
Rad54l2 A C 9: 106,600,108 (GRCm39) S50A possibly damaging Het
Rhov C T 2: 119,100,949 (GRCm39) R96H probably damaging Het
Rph3a A T 5: 121,101,906 (GRCm39) V110E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,610,192 (GRCm39) N646K probably benign Het
Scn8a A G 15: 100,854,935 (GRCm39) T141A probably damaging Het
Serping1 T C 2: 84,600,629 (GRCm39) R238G possibly damaging Het
Shank3 T A 15: 89,433,901 (GRCm39) W1474R probably damaging Het
Slc16a12 T A 19: 34,652,358 (GRCm39) M263L probably benign Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Spata31 G A 13: 65,067,537 (GRCm39) M66I probably benign Het
Spem2 T C 11: 69,708,558 (GRCm39) I136V probably benign Het
Supt5 T C 7: 28,015,462 (GRCm39) H925R probably benign Het
Syk A T 13: 52,766,484 (GRCm39) K190* probably null Het
Thsd1 T A 8: 22,733,340 (GRCm39) V129D probably damaging Het
Tiprl A G 1: 165,047,759 (GRCm39) V174A possibly damaging Het
Tmed4 T A 11: 6,224,500 (GRCm39) probably null Het
Tnfrsf19 T C 14: 61,208,658 (GRCm39) T288A probably benign Het
Tnfrsf25 T C 4: 152,202,153 (GRCm39) probably null Het
Tpd52 A G 3: 9,000,056 (GRCm39) L121S probably damaging Het
Trim30a T A 7: 104,060,827 (GRCm39) K316N probably benign Het
Ttn C T 2: 76,714,403 (GRCm39) probably benign Het
Ttn T C 2: 76,776,615 (GRCm39) I1514V probably benign Het
Ulk2 T C 11: 61,689,982 (GRCm39) T671A probably benign Het
Wasf1 C T 10: 40,810,600 (GRCm39) P281S probably damaging Het
Wnt10b C A 15: 98,672,084 (GRCm39) R211L probably damaging Het
Xpnpep3 T A 15: 81,332,577 (GRCm39) C371* probably null Het
Zfp41 C T 15: 75,490,617 (GRCm39) probably benign Het
Zfp553 T A 7: 126,834,683 (GRCm39) N79K probably benign Het
Zmynd8 G T 2: 165,634,736 (GRCm39) D1096E probably benign 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
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'- TGCTTCTGTCATCGCCAGTG -3'
(R):5'- TGCTGCCACTAAGTCACACC -3'

Sequencing Primer
(F):5'- GCCAGTGGCCCTATATGTAACTG -3'
(R):5'- TTGAAAGCCAGCCTGGTCTAC -3'
Posted On 2016-05-10