Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Ttc6'

275775

Institutional Source

Beutler Lab

Gene Symbol

Ttc6

Ensembl Gene

ENSMUSG00000046782

Gene Name

tetratricopeptide repeat domain 6

Synonyms

LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57610899-57784714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57723932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1020 (R1020H)

Ref Sequence

ENSEMBL: ENSMUSP00000134273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172939]

AlphaFold

G3UYY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000172939
AA Change: R1020H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: R1020H

Domain	Start	End	E-Value	Type
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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Ttc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCAAGAATTTGATGGTGGGCCC -3'
(R):5'- AGCTCGTTGTCTTAAAAGGGG -3'

Sequencing Primer
(F):5'- TGGGCCCAGTTCTTAGTATAATC -3'
(R):5'- GGCTGTCAGATTATAGCAAGTCAC -3'

Posted On

2015-04-06