Incidental Mutation 'R5646:Ttc6'
ID 441180
Institutional Source Beutler Lab
Gene Symbol Ttc6
Ensembl Gene ENSMUSG00000046782
Gene Name tetratricopeptide repeat domain 6
Synonyms LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163
MMRRC Submission 043294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5646 (G1)
Quality Score 106
Status Not validated
Chromosome 12
Chromosomal Location 57610899-57784714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57622805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 68 (K68M)
Ref Sequence ENSEMBL: ENSMUSP00000098946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101398] [ENSMUST00000172939]
AlphaFold G3UYY4
Predicted Effect probably damaging
Transcript: ENSMUST00000101398
AA Change: K68M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098946
Gene: ENSMUSG00000046782
AA Change: K68M

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
Predicted Effect unknown
Transcript: ENSMUST00000172939
AA Change: K68M
SMART Domains Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: K68M

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add1 C A 5: 34,788,024 (GRCm39) A691D probably benign Het
Agap3 C A 5: 24,688,395 (GRCm39) D394E probably benign Het
Arhgef11 T C 3: 87,591,793 (GRCm39) V59A possibly damaging Het
Atp2a1 A G 7: 126,052,277 (GRCm39) V402A probably benign Het
Bbs9 T C 9: 22,490,011 (GRCm39) F261L probably benign Het
Bsn A T 9: 107,987,631 (GRCm39) probably benign Het
Camk1 A G 6: 113,316,301 (GRCm39) V81A probably damaging Het
Cass4 T G 2: 172,258,165 (GRCm39) C54W probably damaging Het
Ccdc39 A T 3: 33,879,699 (GRCm39) F456L probably damaging Het
Cdc42bpa A G 1: 179,933,659 (GRCm39) E766G probably damaging Het
Cdcp2 T C 4: 106,962,339 (GRCm39) C171R probably damaging Het
Cdh9 G A 15: 16,823,371 (GRCm39) E118K probably damaging Het
Col4a2 G A 8: 11,491,281 (GRCm39) G1227R probably damaging Het
Cyp2d9 A G 15: 82,336,665 (GRCm39) T5A probably benign Het
Dlg5 T A 14: 24,208,767 (GRCm39) D813V probably damaging Het
Dmtf1 G A 5: 9,174,515 (GRCm39) S405F possibly damaging Het
Drd2 A G 9: 49,316,212 (GRCm39) K324R probably benign Het
Ergic1 T C 17: 26,833,332 (GRCm39) S29P probably damaging Het
Fmnl1 A G 11: 103,087,338 (GRCm39) probably benign Het
Foxd2 C T 4: 114,765,832 (GRCm39) A63T unknown Het
Gfap T C 11: 102,782,282 (GRCm39) I409M probably benign Het
Gfpt1 A G 6: 87,019,981 (GRCm39) M1V probably null Het
H2-T23 C G 17: 36,342,695 (GRCm39) E148Q possibly damaging Het
Hip1 G A 5: 135,457,595 (GRCm39) R704W probably damaging Het
Kif19a A C 11: 114,670,480 (GRCm39) D130A probably damaging Het
Lin7b T C 7: 45,018,617 (GRCm39) D14G probably damaging Het
Meioc T A 11: 102,566,083 (GRCm39) N510K possibly damaging Het
Mettl5 C A 2: 69,711,663 (GRCm39) G68* probably null Het
Mitf A T 6: 97,990,655 (GRCm39) I184F probably damaging Het
Mmp9 T A 2: 164,790,970 (GRCm39) H119Q probably benign Het
Mycbp2 T A 14: 103,407,346 (GRCm39) H2768L probably benign Het
Myh2 A T 11: 67,079,638 (GRCm39) I1032F probably benign Het
Myo3b T C 2: 70,144,774 (GRCm39) I1110T probably damaging Het
Nde1 T C 16: 13,987,378 (GRCm39) F8L probably damaging Het
Or10aa3 C T 1: 173,878,853 (GRCm39) Q305* probably null Het
Or2a25 A G 6: 42,888,457 (GRCm39) probably null Het
Or2h2b-ps1 T C 17: 37,480,808 (GRCm39) I244V probably benign Het
Or4f47 T C 2: 111,973,028 (GRCm39) V246A possibly damaging Het
Or51r1 A C 7: 102,228,512 (GRCm39) Y270S possibly damaging Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c202 T C 10: 128,996,706 (GRCm39) D49G possibly damaging Het
Pcdhga8 A G 18: 37,859,823 (GRCm39) H293R probably benign Het
Pde7a A T 3: 19,287,937 (GRCm39) L244Q probably damaging Het
Pex14 T C 4: 149,045,910 (GRCm39) D340G probably benign Het
Pfkfb4 A T 9: 108,837,489 (GRCm39) I195F probably damaging Het
Pik3c2a C A 7: 116,005,186 (GRCm39) G361W probably damaging Het
Prkcg T A 7: 3,377,597 (GRCm39) M517K probably damaging Het
Prob1 A T 18: 35,787,167 (GRCm39) F362L probably benign Het
Rims4 C T 2: 163,705,937 (GRCm39) W232* probably null Het
Robo2 T C 16: 73,758,707 (GRCm39) D688G probably damaging Het
Sec24c C A 14: 20,729,641 (GRCm39) A73E probably benign Het
Slc15a3 A G 19: 10,820,574 (GRCm39) N64D probably benign Het
Smg1 A T 7: 117,811,782 (GRCm39) N65K probably benign Het
Spata31h1 A G 10: 82,119,610 (GRCm39) S4467P probably damaging Het
Sptb G T 12: 76,634,215 (GRCm39) D2165E probably benign Het
Sptbn5 A T 2: 119,879,292 (GRCm39) noncoding transcript Het
Syt12 A T 19: 4,506,569 (GRCm39) M192K possibly damaging Het
Tas2r107 A G 6: 131,636,671 (GRCm39) V126A probably benign Het
Thbs3 T C 3: 89,126,405 (GRCm39) L242P probably damaging Het
Timp2 A T 11: 118,208,358 (GRCm39) probably null Het
Tmtc1 G A 6: 148,148,329 (GRCm39) A751V probably damaging Het
Tnni2 A T 7: 141,997,650 (GRCm39) D85V probably damaging Het
Ttc39b G A 4: 83,162,307 (GRCm39) P319L probably damaging Het
Usp25 G A 16: 76,847,360 (GRCm39) R156Q probably benign Het
Vill A T 9: 118,900,230 (GRCm39) D365V probably damaging Het
Vmn1r65 T A 7: 6,012,223 (GRCm39) T4S probably benign Het
Vmn2r76 C A 7: 85,875,261 (GRCm39) C572F probably damaging Het
Vps26a A C 10: 62,304,077 (GRCm39) N181K probably damaging Het
Xirp2 T C 2: 67,341,134 (GRCm39) L1125P probably damaging Het
Zbtb41 T G 1: 139,351,501 (GRCm39) S205A probably benign Het
Zfp438 T C 18: 5,214,526 (GRCm39) D144G probably benign Het
Zfp600 T C 4: 146,131,670 (GRCm39) S113P probably damaging Het
Zfp84 C T 7: 29,475,818 (GRCm39) T170M probably benign Het
Zmiz2 T A 11: 6,352,837 (GRCm39) D654E probably damaging Het
Zswim4 A T 8: 84,957,739 (GRCm39) probably null 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
R4747:Ttc6 UTSW 12 57,721,478 (GRCm39) missense possibly damaging 0.86
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
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'- CTGACAGCCAGAGAGGAATC -3'
(R):5'- GTCAATATCGCTGCTCAGGC -3'

Sequencing Primer
(F):5'- CAGCCAGAGAGGAATCATACATGTTC -3'
(R):5'- AATATCGCTGCTCAGGCTGGAC -3'
Posted On 2016-11-08