Incidental Mutation 'R4747:Ttc6'
ID 357217
Institutional Source Beutler Lab
Gene Symbol Ttc6
Ensembl Gene ENSMUSG00000046782
Gene Name tetratricopeptide repeat domain 6
Synonyms LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163
MMRRC Submission 042029-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 57610899-57784714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57721478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 989 (D989V)
Ref Sequence ENSEMBL: ENSMUSP00000134273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172939]
AlphaFold G3UYY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000172939
AA Change: D989V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: D989V

DomainStartEndE-ValueType
coiled coil region 18 42 N/A INTRINSIC
low complexity region 146 162 N/A INTRINSIC
low complexity region 188 212 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 486 495 N/A INTRINSIC
low complexity region 670 685 N/A INTRINSIC
low complexity region 733 740 N/A INTRINSIC
TPR 889 922 2e-4 SMART
TPR 957 989 2.36e1 SMART
TPR 990 1022 2.63e1 SMART
TPR 1023 1056 9.39e-1 SMART
TPR 1057 1090 3.78e-5 SMART
Blast:TPR 1126 1157 1e-11 BLAST
SEL1 1160 1192 3.39e1 SMART
TPR 1160 1194 4.44e1 SMART
TPR 1195 1228 7.87e0 SMART
Blast:TPR 1229 1262 1e-11 BLAST
TPR 1297 1330 1.24e0 SMART
SEL1 1341 1372 9.26e-1 SMART
TPR 1341 1374 3.45e-8 SMART
TPR 1375 1407 8.76e-1 SMART
TPR 1408 1441 1.45e-1 SMART
TPR 1442 1475 1.36e1 SMART
TPR 1476 1509 7.34e-3 SMART
TPR 1513 1546 1.01e0 SMART
TPR 1547 1580 2.55e-2 SMART
TPR 1581 1617 2.43e1 SMART
Blast:TPR 1618 1651 4e-12 BLAST
TPR 1652 1685 7.87e0 SMART
TPR 1686 1718 2.35e-1 SMART
SEL1 1719 1750 1.21e2 SMART
TPR 1719 1752 1.65e-5 SMART
TPR 1753 1786 1.66e-1 SMART
TPR 1787 1820 1.45e-1 SMART
TPR 1821 1854 3.27e0 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Acadvl G T 11: 69,903,334 (GRCm39) N340K probably damaging Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Ercc6 T C 14: 32,291,864 (GRCm39) V1076A probably benign Het
Fgd4 T C 16: 16,241,793 (GRCm39) Y677C probably damaging Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Gm12258 C A 11: 58,750,422 (GRCm39) H532Q probably damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Hfm1 G A 5: 107,065,389 (GRCm39) H97Y probably benign Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
Sptbn2 T A 19: 4,798,182 (GRCm39) M1969K probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G probably benign Het
Other mutations in Ttc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03278:Ttc6 APN 12 57,668,812 (GRCm39) missense probably damaging 0.99
polonius UTSW 12 57,704,928 (GRCm39) splice site probably null
tybalt UTSW 12 57,720,542 (GRCm39) missense possibly damaging 0.85
IGL02802:Ttc6 UTSW 12 57,622,654 (GRCm39) missense probably benign 0.14
PIT4802001:Ttc6 UTSW 12 57,772,462 (GRCm39) missense possibly damaging 0.89
R0698:Ttc6 UTSW 12 57,720,002 (GRCm39) missense probably benign 0.04
R0988:Ttc6 UTSW 12 57,735,435 (GRCm39) splice site probably benign
R1290:Ttc6 UTSW 12 57,707,199 (GRCm39) missense probably benign 0.00
R1338:Ttc6 UTSW 12 57,663,155 (GRCm39) missense probably benign 0.10
R1468:Ttc6 UTSW 12 57,721,463 (GRCm39) missense possibly damaging 0.54
R1468:Ttc6 UTSW 12 57,721,463 (GRCm39) missense possibly damaging 0.54
R1481:Ttc6 UTSW 12 57,783,916 (GRCm39) missense probably damaging 1.00
R1488:Ttc6 UTSW 12 57,696,301 (GRCm39) missense possibly damaging 0.66
R1558:Ttc6 UTSW 12 57,733,132 (GRCm39) missense probably benign 0.14
R1570:Ttc6 UTSW 12 57,721,549 (GRCm39) missense probably damaging 0.98
R1619:Ttc6 UTSW 12 57,784,454 (GRCm39) missense possibly damaging 0.73
R1819:Ttc6 UTSW 12 57,741,286 (GRCm39) critical splice donor site probably null
R1826:Ttc6 UTSW 12 57,707,033 (GRCm39) missense probably benign 0.10
R1863:Ttc6 UTSW 12 57,760,881 (GRCm39) missense probably benign 0.04
R1872:Ttc6 UTSW 12 57,751,338 (GRCm39) critical splice donor site probably null
R1887:Ttc6 UTSW 12 57,720,044 (GRCm39) missense probably benign 0.04
R1937:Ttc6 UTSW 12 57,663,109 (GRCm39) missense probably benign 0.02
R2014:Ttc6 UTSW 12 57,623,003 (GRCm39) missense possibly damaging 0.92
R2056:Ttc6 UTSW 12 57,784,479 (GRCm39) missense probably benign 0.08
R2058:Ttc6 UTSW 12 57,784,479 (GRCm39) missense probably benign 0.08
R2059:Ttc6 UTSW 12 57,784,479 (GRCm39) missense probably benign 0.08
R2152:Ttc6 UTSW 12 57,752,338 (GRCm39) missense probably damaging 0.98
R2179:Ttc6 UTSW 12 57,719,904 (GRCm39) missense possibly damaging 0.62
R2275:Ttc6 UTSW 12 57,749,084 (GRCm39) missense probably benign 0.01
R2432:Ttc6 UTSW 12 57,668,821 (GRCm39) missense possibly damaging 0.79
R2474:Ttc6 UTSW 12 57,622,713 (GRCm39) missense probably benign 0.37
R2853:Ttc6 UTSW 12 57,622,967 (GRCm39) missense probably damaging 0.96
R3848:Ttc6 UTSW 12 57,723,932 (GRCm39) missense probably damaging 0.97
R3853:Ttc6 UTSW 12 57,775,335 (GRCm39) missense possibly damaging 0.88
R3950:Ttc6 UTSW 12 57,696,292 (GRCm39) missense probably damaging 0.97
R3953:Ttc6 UTSW 12 57,744,238 (GRCm39) missense probably benign 0.03
R3954:Ttc6 UTSW 12 57,744,238 (GRCm39) missense probably benign 0.03
R3955:Ttc6 UTSW 12 57,744,238 (GRCm39) missense probably benign 0.03
R3957:Ttc6 UTSW 12 57,744,238 (GRCm39) missense probably benign 0.03
R4135:Ttc6 UTSW 12 57,679,581 (GRCm39) intron probably benign
R4387:Ttc6 UTSW 12 57,689,836 (GRCm39) missense probably benign 0.00
R4577:Ttc6 UTSW 12 57,623,441 (GRCm39) missense probably benign 0.22
R4779:Ttc6 UTSW 12 57,776,237 (GRCm39) missense probably damaging 1.00
R4803:Ttc6 UTSW 12 57,775,291 (GRCm39) missense probably damaging 1.00
R4871:Ttc6 UTSW 12 57,749,142 (GRCm39) missense probably damaging 0.96
R4898:Ttc6 UTSW 12 57,707,026 (GRCm39) missense probably benign 0.00
R4930:Ttc6 UTSW 12 57,720,609 (GRCm39) critical splice donor site probably null
R4946:Ttc6 UTSW 12 57,689,926 (GRCm39) missense probably benign 0.01
R5257:Ttc6 UTSW 12 57,749,061 (GRCm39) missense possibly damaging 0.92
R5303:Ttc6 UTSW 12 57,622,606 (GRCm39) missense possibly damaging 0.90
R5385:Ttc6 UTSW 12 57,689,821 (GRCm39) splice site probably null
R5402:Ttc6 UTSW 12 57,783,817 (GRCm39) nonsense probably null
R5428:Ttc6 UTSW 12 57,736,620 (GRCm39) missense probably null 0.98
R5436:Ttc6 UTSW 12 57,721,380 (GRCm39) splice site probably null
R5646:Ttc6 UTSW 12 57,622,805 (GRCm39) missense probably damaging 0.99
R5697:Ttc6 UTSW 12 57,724,000 (GRCm39) missense probably benign 0.22
R5792:Ttc6 UTSW 12 57,719,990 (GRCm39) missense possibly damaging 0.71
R5808:Ttc6 UTSW 12 57,664,397 (GRCm39) missense possibly damaging 0.84
R5842:Ttc6 UTSW 12 57,783,802 (GRCm39) missense probably damaging 1.00
R5935:Ttc6 UTSW 12 57,720,590 (GRCm39) missense probably damaging 0.98
R6144:Ttc6 UTSW 12 57,719,886 (GRCm39) missense possibly damaging 0.83
R6155:Ttc6 UTSW 12 57,784,402 (GRCm39) missense possibly damaging 0.84
R6283:Ttc6 UTSW 12 57,749,048 (GRCm39) missense possibly damaging 0.95
R6371:Ttc6 UTSW 12 57,775,249 (GRCm39) missense possibly damaging 0.89
R6715:Ttc6 UTSW 12 57,721,556 (GRCm39) critical splice donor site probably null
R6738:Ttc6 UTSW 12 57,735,426 (GRCm39) missense probably damaging 0.99
R6795:Ttc6 UTSW 12 57,751,199 (GRCm39) missense probably damaging 0.96
R6959:Ttc6 UTSW 12 57,704,928 (GRCm39) splice site probably null
R7053:Ttc6 UTSW 12 57,707,318 (GRCm39) missense probably benign 0.01
R7125:Ttc6 UTSW 12 57,623,125 (GRCm39) missense probably benign 0.00
R7259:Ttc6 UTSW 12 57,622,970 (GRCm39) missense probably benign 0.00
R7304:Ttc6 UTSW 12 57,622,837 (GRCm39) missense probably damaging 0.96
R7369:Ttc6 UTSW 12 57,719,717 (GRCm39) critical splice acceptor site probably null
R7409:Ttc6 UTSW 12 57,743,772 (GRCm39) missense probably damaging 0.99
R7429:Ttc6 UTSW 12 57,704,888 (GRCm39) missense probably benign 0.00
R7430:Ttc6 UTSW 12 57,704,888 (GRCm39) missense probably benign 0.00
R7492:Ttc6 UTSW 12 57,719,922 (GRCm39) missense probably benign 0.02
R7535:Ttc6 UTSW 12 57,623,305 (GRCm39) missense probably benign 0.00
R7866:Ttc6 UTSW 12 57,721,435 (GRCm39) missense probably damaging 0.97
R7901:Ttc6 UTSW 12 57,735,353 (GRCm39) missense probably damaging 1.00
R7944:Ttc6 UTSW 12 57,707,229 (GRCm39) missense possibly damaging 0.46
R7945:Ttc6 UTSW 12 57,707,229 (GRCm39) missense possibly damaging 0.46
R7965:Ttc6 UTSW 12 57,720,542 (GRCm39) missense possibly damaging 0.85
R8062:Ttc6 UTSW 12 57,783,764 (GRCm39) missense possibly damaging 0.90
R8119:Ttc6 UTSW 12 57,752,429 (GRCm39) missense possibly damaging 0.78
R8142:Ttc6 UTSW 12 57,744,258 (GRCm39) missense possibly damaging 0.87
R8154:Ttc6 UTSW 12 57,776,210 (GRCm39) missense probably damaging 1.00
R8171:Ttc6 UTSW 12 57,720,096 (GRCm39) missense probably damaging 1.00
R8335:Ttc6 UTSW 12 57,707,077 (GRCm39) missense probably benign 0.00
R8343:Ttc6 UTSW 12 57,707,282 (GRCm39) missense possibly damaging 0.47
R8696:Ttc6 UTSW 12 57,784,492 (GRCm39) missense probably benign 0.20
R8875:Ttc6 UTSW 12 57,776,194 (GRCm39) missense possibly damaging 0.46
R8875:Ttc6 UTSW 12 57,751,199 (GRCm39) missense probably damaging 0.96
R8876:Ttc6 UTSW 12 57,784,489 (GRCm39) missense possibly damaging 0.81
R8924:Ttc6 UTSW 12 57,697,790 (GRCm39) nonsense probably null
R8944:Ttc6 UTSW 12 57,689,826 (GRCm39) missense
R8956:Ttc6 UTSW 12 57,775,196 (GRCm39) nonsense probably null
R9009:Ttc6 UTSW 12 57,744,219 (GRCm39) missense probably damaging 1.00
R9020:Ttc6 UTSW 12 57,752,366 (GRCm39) missense probably damaging 1.00
R9051:Ttc6 UTSW 12 57,783,949 (GRCm39) missense probably damaging 1.00
R9232:Ttc6 UTSW 12 57,776,210 (GRCm39) missense probably damaging 1.00
R9291:Ttc6 UTSW 12 57,622,730 (GRCm39) missense probably damaging 0.99
R9304:Ttc6 UTSW 12 57,776,117 (GRCm39) missense probably damaging 0.99
R9309:Ttc6 UTSW 12 57,753,649 (GRCm39) missense possibly damaging 0.69
R9331:Ttc6 UTSW 12 57,720,509 (GRCm39) missense probably damaging 1.00
R9398:Ttc6 UTSW 12 57,784,404 (GRCm39) nonsense probably null
R9430:Ttc6 UTSW 12 57,733,193 (GRCm39) missense probably damaging 1.00
R9632:Ttc6 UTSW 12 57,664,299 (GRCm39) missense probably benign
R9688:Ttc6 UTSW 12 57,720,602 (GRCm39) missense possibly damaging 0.92
R9732:Ttc6 UTSW 12 57,775,335 (GRCm39) missense probably benign 0.36
R9740:Ttc6 UTSW 12 57,736,496 (GRCm39) missense probably damaging 1.00
R9749:Ttc6 UTSW 12 57,701,559 (GRCm39) missense probably benign 0.00
X0021:Ttc6 UTSW 12 57,622,904 (GRCm39) missense probably damaging 0.96
X0058:Ttc6 UTSW 12 57,753,637 (GRCm39) missense probably damaging 0.99
Z1176:Ttc6 UTSW 12 57,744,161 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CAAGACTGCAGTTTTGGAGAGG -3'
(R):5'- TGTGATGACTCTTAAGGGCTTTAC -3'

Sequencing Primer
(F):5'- GAGAGGGATTGTTGCCTTAAATTCAC -3'
(R):5'- ACTCTTAAGGGCTTTACAAGGG -3'
Posted On 2015-11-11