Incidental Mutation 'R4867:Ttc3'
ID 376276
Institutional Source Beutler Lab
Gene Symbol Ttc3
Ensembl Gene ENSMUSG00000040785
Gene Name tetratricopeptide repeat domain 3
Synonyms D16Ium21e, TPRD, 2610202A04Rik, D16Ium21
MMRRC Submission 042477-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.597) question?
Stock # R4867 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 94171479-94270081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94255374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1268 (A1268T)
Ref Sequence ENSEMBL: ENSMUSP00000156137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117648] [ENSMUST00000154196] [ENSMUST00000231569] [ENSMUST00000231915] [ENSMUST00000232395] [ENSMUST00000232660]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000117648
AA Change: A1623T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
AA Change: A1623T

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 unknown
Transcript: ENSMUST00000141192
AA Change: A64T
Predicted Effect probably benign
Transcript: ENSMUST00000154196
Predicted Effect probably damaging
Transcript: ENSMUST00000231569
AA Change: A1268T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000231915
Predicted Effect unknown
Transcript: ENSMUST00000232368
AA Change: A247T
Predicted Effect possibly damaging
Transcript: ENSMUST00000232395
AA Change: A1623T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232660
AA Change: A1623T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,366,099 (GRCm39) I215V probably damaging Het
4921509C19Rik A T 2: 151,314,742 (GRCm39) L312* probably null Het
9930111J21Rik1 T A 11: 48,839,375 (GRCm39) probably null Het
Abca6 C A 11: 110,093,205 (GRCm39) V1023F probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acsbg2 A G 17: 57,169,914 (GRCm39) I151T possibly damaging Het
Arid1a G A 4: 133,448,168 (GRCm39) S115L probably benign Het
B4galnt2 T C 11: 95,759,252 (GRCm39) D344G probably damaging Het
Ccdc40 T C 11: 119,122,614 (GRCm39) S139P probably benign Het
Ccnjl T C 11: 43,474,055 (GRCm39) V210A possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfhr4 A T 1: 139,702,213 (GRCm39) probably null Het
Cog4 T C 8: 111,593,242 (GRCm39) V451A probably damaging Het
Crb1 A T 1: 139,170,752 (GRCm39) N818K probably damaging Het
Crtc1 T C 8: 70,855,164 (GRCm39) D152G probably damaging Het
Cse1l T A 2: 166,768,323 (GRCm39) I207N possibly damaging Het
Cux1 TGGCAGGCGCG TG 5: 136,303,815 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,947,235 (GRCm39) Y272C possibly damaging Het
Cyp4f16 T C 17: 32,769,724 (GRCm39) F445L possibly damaging Het
Dlc1 T C 8: 37,051,799 (GRCm39) H644R probably benign Het
Ecm2 A T 13: 49,684,821 (GRCm39) I643F probably damaging Het
Eogt A T 6: 97,097,108 (GRCm39) probably benign Het
Fbxo41 A C 6: 85,452,176 (GRCm39) S777A probably benign Het
Fga T A 3: 82,935,951 (GRCm39) D59E probably benign Het
Flt3 A T 5: 147,271,250 (GRCm39) V897D probably damaging Het
Fmn1 G T 2: 113,414,465 (GRCm39) probably null Het
Frem3 T C 8: 81,339,912 (GRCm39) L735P probably damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gabpa T A 16: 84,654,356 (GRCm39) D344E probably benign Het
Gtf3a C T 5: 146,888,723 (GRCm39) Q145* probably null Het
Il36rn A T 2: 24,170,847 (GRCm39) N48I probably damaging Het
Iqca1 A G 1: 90,017,226 (GRCm39) L403S probably benign Het
Jrk C T 15: 74,579,069 (GRCm39) R72Q probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Krt12 T C 11: 99,307,789 (GRCm39) D433G possibly damaging Het
Lce1h A T 3: 92,670,770 (GRCm39) S127R unknown Het
Lrrc7 T G 3: 157,866,642 (GRCm39) Y1033S probably damaging Het
Macf1 A G 4: 123,365,993 (GRCm39) S1358P probably damaging Het
Mfsd1 T A 3: 67,495,320 (GRCm39) probably null Het
Mki67 T C 7: 135,301,585 (GRCm39) T1150A probably damaging Het
Nadk2 A G 15: 9,098,946 (GRCm39) I291M possibly damaging Het
Or13g1 T C 7: 85,955,491 (GRCm39) T277A probably benign Het
Or1j12 A C 2: 36,343,211 (GRCm39) M205L probably benign Het
Or2r2 A G 6: 42,464,031 (GRCm39) V32A probably benign Het
Or6e1 T A 14: 54,520,086 (GRCm39) T89S probably benign Het
Or7g17 A T 9: 18,768,862 (GRCm39) I305F probably benign Het
Parp14 T A 16: 35,677,697 (GRCm39) Y757F probably benign Het
Pcdh18 T C 3: 49,709,113 (GRCm39) Y734C probably damaging Het
Pcnx4 T C 12: 72,620,726 (GRCm39) S849P probably benign Het
Pds5a T C 5: 65,801,463 (GRCm39) K595E probably damaging Het
Prkg2 T A 5: 99,172,568 (GRCm39) Y49F probably benign Het
Prr5 G T 15: 84,624,967 (GRCm39) L46F probably benign Het
Ptgdr G T 14: 45,096,253 (GRCm39) P153Q probably damaging Het
Rbm12b2 T C 4: 12,094,805 (GRCm39) S555P probably damaging Het
Rhog T G 7: 101,889,357 (GRCm39) Y32S probably damaging Het
Rnf141 T C 7: 110,415,975 (GRCm39) T209A probably damaging Het
Rtkn2 T C 10: 67,837,757 (GRCm39) I103T probably damaging Het
Scn5a G T 9: 119,379,737 (GRCm39) C182* probably null Het
Sema3a A G 5: 13,501,208 (GRCm39) N84D probably benign Het
Sema5a G T 15: 32,550,436 (GRCm39) M158I possibly damaging Het
Shprh T A 10: 11,040,301 (GRCm39) D71E probably benign Het
Slc26a8 A G 17: 28,882,608 (GRCm39) I239T probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Ston1 C T 17: 88,943,122 (GRCm39) A176V probably damaging Het
Sult2a5 T C 7: 13,357,976 (GRCm39) S3P probably benign Het
Tango6 T A 8: 107,545,158 (GRCm39) V1007E probably damaging Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tas2r124 A G 6: 132,732,156 (GRCm39) Y155C probably damaging Het
Tenm3 G A 8: 48,688,856 (GRCm39) R2244W probably damaging Het
Thoc2l T C 5: 104,668,868 (GRCm39) I1130T possibly damaging Het
Tlk1 A T 2: 70,551,915 (GRCm39) Y585* probably null Het
Tmem221 C T 8: 72,007,784 (GRCm39) E214K probably benign Het
Tmem38a T C 8: 73,335,077 (GRCm39) V172A possibly damaging Het
Tspo2 C T 17: 48,755,705 (GRCm39) A146T possibly damaging Het
Usp25 T A 16: 76,847,355 (GRCm39) D154E probably damaging Het
Usp34 T C 11: 23,401,999 (GRCm39) F2410L probably benign Het
Vmn1r128 T A 7: 21,083,939 (GRCm39) H214Q possibly damaging Het
Vmn1r24 A C 6: 57,933,421 (GRCm39) C32W probably damaging Het
Zfp931 T A 2: 177,709,855 (GRCm39) H177L probably damaging Het
Znrf1 T C 8: 112,264,198 (GRCm39) 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
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'- GCACAGTGTGTCTGAATTGAGG -3'
(R):5'- GGCAAAGAAAACTAACCCTGATTT -3'

Sequencing Primer
(F):5'- GATGTGATTTCAAAGCTGAACTGGC -3'
(R):5'- TAGTAGAGCAAAGGCCCTC -3'
Posted On 2016-03-17