Incidental Mutation 'R0135:Ttc3'
ID 21913
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 038420-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R0135 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94263127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1498 (N1498D)
Ref Sequence ENSEMBL: ENSMUSP00000156137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000154196] [ENSMUST00000211314] [ENSMUST00000231569] [ENSMUST00000232660] [ENSMUST00000232395] [ENSMUST00000231915]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000117648
AA Change: N1853D

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: N1853D

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: ENSMUST00000129536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131429
Predicted Effect probably benign
Transcript: ENSMUST00000141192
Predicted Effect probably benign
Transcript: ENSMUST00000154196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211314
Predicted Effect possibly damaging
Transcript: ENSMUST00000231569
AA Change: N1498D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232660
AA Change: N1853D

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232395
AA Change: N1853D

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect probably benign
Transcript: ENSMUST00000232368
Meta Mutation Damage Score 0.0626 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 100% (80/80)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,515 (GRCm39) F207S probably damaging Het
Abhd8 T A 8: 71,910,718 (GRCm39) K363N probably benign Het
Adam11 T A 11: 102,667,399 (GRCm39) V653E probably damaging Het
Adam18 T C 8: 25,155,558 (GRCm39) S154G possibly damaging Het
Adamts1 T C 16: 85,595,591 (GRCm39) probably benign Het
Afm G T 5: 90,698,181 (GRCm39) V528L probably benign Het
Alox12b C T 11: 69,053,574 (GRCm39) H145Y probably benign Het
Ankmy2 C A 12: 36,220,434 (GRCm39) probably benign Het
Aox3 G A 1: 58,164,247 (GRCm39) probably benign Het
Arhgap28 T C 17: 68,171,583 (GRCm39) D396G probably damaging Het
B430203G13Rik T C 12: 17,974,489 (GRCm39) noncoding transcript Het
Bean1 C T 8: 104,943,807 (GRCm39) P121S probably damaging Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Brwd1 A C 16: 95,848,304 (GRCm39) N572K probably damaging Het
C5ar1 A T 7: 15,982,864 (GRCm39) V52E probably damaging Het
Cblif G T 19: 11,735,118 (GRCm39) C246F probably damaging Het
Cdr2l C A 11: 115,284,497 (GRCm39) P278T probably damaging Het
Cnga4 T A 7: 105,056,055 (GRCm39) I219N probably damaging Het
Cpne2 C T 8: 95,281,553 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,379 (GRCm39) S1057P possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dgcr2 A G 16: 17,676,306 (GRCm39) S152P probably damaging Het
Dstyk A T 1: 132,390,672 (GRCm39) D828V probably damaging Het
Eml2 T C 7: 18,937,877 (GRCm39) S582P probably damaging Het
Engase T C 11: 118,375,304 (GRCm39) Y359H possibly damaging Het
Fat3 T C 9: 15,918,073 (GRCm39) D1450G probably damaging Het
Fbxw8 A T 5: 118,208,552 (GRCm39) I467N probably damaging Het
Fhdc1 A T 3: 84,352,925 (GRCm39) Y767N probably damaging Het
Flii T C 11: 60,614,204 (GRCm39) D105G probably damaging Het
Gaa C T 11: 119,169,716 (GRCm39) T590I probably benign Het
Gabrr1 T A 4: 33,160,224 (GRCm39) S303T probably damaging Het
Garre1 T C 7: 33,945,382 (GRCm39) I499M probably damaging Het
Glp1r A G 17: 31,143,551 (GRCm39) I196V probably benign Het
Grm6 G A 11: 50,744,050 (GRCm39) E174K probably damaging Het
Helz2 A C 2: 180,874,062 (GRCm39) L2144R probably damaging Het
Itpr1 A T 6: 108,465,443 (GRCm39) probably benign Het
Kcns1 A T 2: 164,006,875 (GRCm39) S363T possibly damaging Het
Kif13a A T 13: 46,947,419 (GRCm39) V855E probably damaging Het
Krt42 T C 11: 100,153,985 (GRCm39) T424A possibly damaging Het
Lct A T 1: 128,212,860 (GRCm39) F1931Y probably damaging Het
Lrp1b A T 2: 41,159,251 (GRCm39) V1563E probably damaging Het
Lrrc37 C A 11: 103,508,873 (GRCm39) probably benign Het
Lzts2 T C 19: 45,014,626 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,456,932 (GRCm39) R615Q possibly damaging Het
Mei1 C T 15: 81,956,170 (GRCm39) Q133* probably null Het
Mif4gd T C 11: 115,499,291 (GRCm39) E197G probably damaging Het
Ncdn A T 4: 126,640,462 (GRCm39) S544T probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Or52a5 T A 7: 103,426,970 (GRCm39) D194V probably damaging Het
Padi6 T C 4: 140,464,663 (GRCm39) T114A probably benign Het
Pigk G T 3: 152,450,343 (GRCm39) probably benign Het
Pkd1 T A 17: 24,784,045 (GRCm39) F197Y possibly damaging Het
Pld5 A T 1: 175,798,155 (GRCm39) F415I probably damaging Het
Pnpla5 A G 15: 83,998,150 (GRCm39) L364P probably damaging Het
Prrc2c G A 1: 162,543,052 (GRCm39) probably benign Het
Rab32 C T 10: 10,426,584 (GRCm39) D121N probably damaging Het
Rab44 A T 17: 29,357,106 (GRCm39) T79S probably benign Het
Reln G T 5: 22,333,647 (GRCm39) N258K probably damaging Het
Retsat A G 6: 72,579,755 (GRCm39) T177A probably damaging Het
Serpinf2 T A 11: 75,327,219 (GRCm39) H236L probably damaging Het
Slc26a6 A T 9: 108,737,794 (GRCm39) probably benign Het
Slitrk1 T A 14: 109,149,061 (GRCm39) E550V probably benign Het
Smarcd3 A T 5: 24,800,497 (GRCm39) probably benign Het
Spdye4a A C 5: 143,210,857 (GRCm39) probably null Het
Susd2 C T 10: 75,474,348 (GRCm39) G572D probably damaging Het
Tcaf3 C T 6: 42,566,692 (GRCm39) R799K probably benign Het
Tg A G 15: 66,566,719 (GRCm39) S1256G probably benign Het
Them4 A T 3: 94,230,877 (GRCm39) probably benign Het
Tmem210 C T 2: 25,178,480 (GRCm39) A47V probably damaging Het
Tnfrsf1b A G 4: 144,955,616 (GRCm39) Y47H probably benign Het
Tnik T G 3: 28,661,394 (GRCm39) N598K possibly damaging Het
Ttll4 C A 1: 74,719,087 (GRCm39) H313N possibly damaging Het
Vipr2 A G 12: 116,106,447 (GRCm39) I348V probably benign Het
Vps13a A G 19: 16,758,129 (GRCm39) V2A probably damaging Het
Vps72 G A 3: 95,026,508 (GRCm39) R151K probably damaging Het
Zfp106 A G 2: 120,350,968 (GRCm39) V1561A probably damaging Het
Zfp658 C A 7: 43,223,019 (GRCm39) Y431* probably null Het
Zkscan2 T C 7: 123,079,864 (GRCm39) K698E 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
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
Predicted Primers PCR Primer
(F):5'- TGCTGAAATTCTGCTACCCACAAGG -3'
(R):5'- TCCCATCAAAGAGGAAAACGAGCTG -3'

Sequencing Primer
(F):5'- CCCACAAGGGAAGAGTTATTTTACC -3'
(R):5'- TCTAGCTGATGGTCCAGCAG -3'
Posted On 2013-04-12