Incidental Mutation 'R7259:Ttc6'
ID 564496
Institutional Source Beutler Lab
Gene Symbol Ttc6
Ensembl Gene ENSMUSG00000046782
Gene Name tetratricopeptide repeat domain 6
Synonyms LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163
MMRRC Submission 045351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R7259 (G1)
Quality Score 207.009
Status Validated
Chromosome 12
Chromosomal Location 57610899-57784714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57622970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 123 (R123L)
Ref Sequence ENSEMBL: ENSMUSP00000098946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101398] [ENSMUST00000172939]
AlphaFold G3UYY4
Predicted Effect probably benign
Transcript: ENSMUST00000101398
AA Change: R123L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098946
Gene: ENSMUSG00000046782
AA Change: R123L

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: R123L
SMART Domains Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: R123L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,620,288 (GRCm39) Y258C probably benign Het
Aebp2 A G 6: 140,579,494 (GRCm39) S244G probably benign Het
Agl A T 3: 116,578,230 (GRCm39) Y495N probably damaging Het
Arhgap33 A G 7: 30,231,625 (GRCm39) V120A probably damaging Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atp2a2 A G 5: 122,604,132 (GRCm39) Y434H probably benign Het
Atrnl1 C T 19: 57,924,038 (GRCm39) R1268* probably null Het
AW554918 A G 18: 25,422,906 (GRCm39) probably null Het
Canx A G 11: 50,192,643 (GRCm39) W324R probably damaging Het
Col9a1 A G 1: 24,224,424 (GRCm39) E202G unknown Het
Crh C A 3: 19,748,418 (GRCm39) A75S possibly damaging Het
Ctnnal1 T A 4: 56,817,299 (GRCm39) probably null Het
Dmrta2 T A 4: 109,839,104 (GRCm39) S284T possibly damaging Het
Dock1 T C 7: 134,384,477 (GRCm39) V680A probably damaging Het
Duox2 G A 2: 122,125,657 (GRCm39) R317C probably damaging Het
Elmod2 A G 8: 84,048,138 (GRCm39) L108P probably damaging Het
Exoc6b A G 6: 84,825,792 (GRCm39) S540P probably benign Het
Fsip2 C T 2: 82,812,474 (GRCm39) A2931V possibly damaging Het
Gipc2 A T 3: 151,833,693 (GRCm39) I196K probably damaging Het
Gli2 A G 1: 118,764,264 (GRCm39) S1296P probably benign Het
Gm21103 T A 14: 17,482,882 (GRCm39) Q173L probably damaging Het
Gpatch1 A T 7: 34,986,546 (GRCm39) probably null Het
Grm8 G A 6: 27,760,175 (GRCm39) T385I probably null Het
Gtf2f1 C A 17: 57,311,562 (GRCm39) D283Y probably damaging Het
Hcar1 T A 5: 124,017,275 (GRCm39) T139S possibly damaging Het
Hcrtr1 T A 4: 130,029,611 (GRCm39) T157S possibly damaging Het
Htra2 T G 6: 83,028,520 (GRCm39) Q436P possibly damaging Het
Igkv1-133 A G 6: 67,702,522 (GRCm39) D80G probably benign Het
Il21 C A 3: 37,281,803 (GRCm39) probably null Het
Inpp5f T A 7: 128,271,681 (GRCm39) C359S probably benign Het
Itgb6 A T 2: 60,480,355 (GRCm39) I327N probably damaging Het
Itgbl1 A T 14: 124,081,316 (GRCm39) T232S probably damaging Het
Kif1a T A 1: 93,001,532 (GRCm39) K266* probably null Het
Mcm10 C A 2: 5,011,328 (GRCm39) E214D probably benign Het
Mefv T A 16: 3,530,917 (GRCm39) I522F probably damaging Het
Naaladl2 T A 3: 24,112,340 (GRCm39) I581F possibly damaging Het
Naip6 A T 13: 100,440,863 (GRCm39) Y306N probably damaging Het
Opn1sw T A 6: 29,378,911 (GRCm39) H247L probably benign Het
Or4c119 A C 2: 88,986,854 (GRCm39) F222V probably benign Het
Or51v15-ps1 A T 7: 103,278,966 (GRCm39) M67K probably damaging Het
Or5k1b T C 16: 58,580,868 (GRCm39) T224A possibly damaging Het
Or6c68 T A 10: 129,157,663 (GRCm39) M57K probably benign Het
Pbxip1 C A 3: 89,352,940 (GRCm39) F195L probably benign Het
Pcdh12 A T 18: 38,414,677 (GRCm39) F816Y probably benign Het
Pi4k2b C A 5: 52,910,587 (GRCm39) N290K probably damaging Het
Pias2 T C 18: 77,240,416 (GRCm39) S598P possibly damaging Het
Ppfia4 A G 1: 134,240,838 (GRCm39) V835A probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Scg2 T C 1: 79,414,702 (GRCm39) Y7C probably benign Het
Sec16a A G 2: 26,331,604 (GRCm39) V137A probably benign Het
Setdb1 G A 3: 95,247,224 (GRCm39) T525I probably benign Het
Sgcg A T 14: 61,462,666 (GRCm39) I227N probably benign Het
Slc35e4 A T 11: 3,862,530 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Stk10 A G 11: 32,548,497 (GRCm39) N355S probably benign Het
Supt6 A T 11: 78,098,442 (GRCm39) D1716E probably damaging Het
Taok3 C T 5: 117,390,608 (GRCm39) A523V probably benign Het
Tekt3 A G 11: 62,974,592 (GRCm39) T304A possibly damaging Het
Tyw1 T A 5: 130,296,713 (GRCm39) probably null Het
Ulk2 A G 11: 61,672,909 (GRCm39) L895P probably damaging Het
Unc13c A T 9: 73,424,645 (GRCm39) N1990K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wipf1 A G 2: 73,265,425 (GRCm39) S393P probably damaging Het
Yju2b T C 8: 84,986,946 (GRCm39) S184G 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
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'- GGCACGTTATGAAGACCAGG -3'
(R):5'- AATATCGCTGCTCAGGCTG -3'

Sequencing Primer
(F):5'- CACGTTATGAAGACCAGGAGAAG -3'
(R):5'- CAAGGAGCTGGCGAGTCTGTAC -3'
Posted On 2019-06-26