Incidental Mutation 'R7944:Ttc6'
ID 649239
Institutional Source Beutler Lab
Gene Symbol Ttc6
Ensembl Gene ENSMUSG00000046782
Gene Name tetratricopeptide repeat domain 6
Synonyms LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163
MMRRC Submission 045990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R7944 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 57610899-57784714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 57707229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 712 (L712R)
Ref Sequence ENSEMBL: ENSMUSP00000134273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172939]
AlphaFold G3UYY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000172939
AA Change: L712R

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: L712R

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T A 8: 13,271,929 (GRCm39) R1610W probably damaging Het
Aig1 A T 10: 13,744,417 (GRCm39) M29K probably damaging Het
Alms1 A T 6: 85,618,362 (GRCm39) I2334F probably benign Het
Ano6 A G 15: 95,839,190 (GRCm39) Y423C probably damaging Het
Arap3 T C 18: 38,122,232 (GRCm39) M619V probably benign Het
Armh4 T A 14: 50,010,670 (GRCm39) T346S probably benign Het
Asb13 T A 13: 3,699,413 (GRCm39) F204L probably damaging Het
Btaf1 T C 19: 36,926,565 (GRCm39) V79A probably benign Het
Casp8ap2 A G 4: 32,645,909 (GRCm39) T1661A probably benign Het
Ccna1 G T 3: 54,958,010 (GRCm39) T165K possibly damaging Het
Cdc42ep1 T A 15: 78,731,973 (GRCm39) S139R possibly damaging Het
Chil3 A C 3: 106,057,464 (GRCm39) Y233* probably null Het
Clec1a T C 6: 129,409,150 (GRCm39) S159G probably benign Het
Cltc A T 11: 86,627,967 (GRCm39) N60K probably benign Het
Dlgap4 T A 2: 156,591,054 (GRCm39) Y747N probably damaging Het
Dnah7b A G 1: 46,266,163 (GRCm39) N2244S probably benign Het
Ephb3 A G 16: 21,040,434 (GRCm39) T811A probably damaging Het
Fbxo21 T C 5: 118,146,212 (GRCm39) Y612H possibly damaging Het
Gale T C 4: 135,692,982 (GRCm39) L75P probably damaging Het
Golgb1 T C 16: 36,734,466 (GRCm39) S1279P probably benign Het
Hdgfl3 T C 7: 81,583,706 (GRCm39) Y22C possibly damaging Het
Hmx3 T G 7: 131,146,111 (GRCm39) I273S probably damaging Het
Hpse2 T C 19: 43,373,248 (GRCm39) N127S probably benign Het
Hsf2bp C T 17: 32,226,743 (GRCm39) R204H probably damaging Het
Ifit1bl1 T A 19: 34,571,224 (GRCm39) H411L probably benign Het
Krtap27-1 T C 16: 88,468,340 (GRCm39) N68S probably benign Het
Ltbp1 T G 17: 75,697,546 (GRCm39) *1713G probably null Het
Lypd6b A G 2: 49,833,612 (GRCm39) E84G probably damaging Het
Meiosin T A 7: 18,834,011 (GRCm39) K508N unknown Het
Mrgprx2 T C 7: 48,132,753 (GRCm39) T22A probably benign Het
Mrto4 T C 4: 139,077,000 (GRCm39) Y39C probably benign Het
Mtmr4 T C 11: 87,495,254 (GRCm39) V437A probably damaging Het
Mylk4 T C 13: 32,911,096 (GRCm39) T221A probably benign Het
Neb T C 2: 52,161,360 (GRCm39) D2144G probably damaging Het
Nup210 T G 6: 91,050,179 (GRCm39) D430A probably damaging Het
Obscn T A 11: 58,984,235 (GRCm39) E1740V probably damaging Het
Or8i2 A G 2: 86,852,657 (GRCm39) V77A probably benign Het
Panx1 A G 9: 14,919,125 (GRCm39) C245R probably damaging Het
Pcdha6 C A 18: 37,101,965 (GRCm39) T386N possibly damaging Het
Pcsk1 G A 13: 75,280,211 (GRCm39) A679T probably benign Het
Pdzph1 T C 17: 59,239,455 (GRCm39) T958A probably damaging Het
Pkd2l2 T A 18: 34,560,481 (GRCm39) Y363N possibly damaging Het
Plekha5 T A 6: 140,526,201 (GRCm39) H946Q possibly damaging Het
Rhbg A G 3: 88,155,007 (GRCm39) L168P probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rtn2 T A 7: 19,020,987 (GRCm39) S153R probably benign Het
Serpinb1a C A 13: 33,034,239 (GRCm39) A51S probably benign Het
Serpinb6e T A 13: 34,016,588 (GRCm39) T382S probably damaging Het
Sgip1 T G 4: 102,772,298 (GRCm39) M229R probably benign Het
Slc1a5 C A 7: 16,523,807 (GRCm39) R271S possibly damaging Het
Slc23a3 A G 1: 75,106,040 (GRCm39) probably null Het
Slc7a6 C T 8: 106,906,239 (GRCm39) P157L possibly damaging Het
Spsb1 T C 4: 149,990,903 (GRCm39) I222V probably benign Het
Syne2 A T 12: 75,951,079 (GRCm39) E410V probably damaging Het
Trappc3 T C 4: 126,168,999 (GRCm39) I163T probably damaging Het
Treh T C 9: 44,592,584 (GRCm39) V63A probably damaging Het
Ttn G T 2: 76,715,309 (GRCm39) Q7928K unknown Het
Tuft1 G A 3: 94,539,909 (GRCm39) P159S probably benign Het
Vmn2r108 T C 17: 20,691,890 (GRCm39) H211R probably damaging Het
Wapl T C 14: 34,399,105 (GRCm39) I58T probably benign Het
Zfp78 C T 7: 6,381,589 (GRCm39) T213I possibly damaging Het
Zmat4 T A 8: 24,238,436 (GRCm39) I6N possibly damaging Het
Zp3r G T 1: 130,524,560 (GRCm39) P226Q probably damaging 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
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
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'- AGAGACCCCACTGCCATTTATAATG -3'
(R):5'- TCATAGAATTACGCCCCTAAGTG -3'

Sequencing Primer
(F):5'- CCACTGCCATTTATAATGAAGGACG -3'
(R):5'- CGAGCCATGAGAATGTACTACTTG -3'
Posted On 2020-09-15