Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Ttc6'

580862

Institutional Source

Beutler Lab

Gene Symbol

Ttc6

Ensembl Gene

ENSMUSG00000046782

Gene Name

tetratricopeptide repeat domain 6

Synonyms

LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

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

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57610899-57784714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57719922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 831 (H831L)

Ref Sequence

ENSEMBL: ENSMUSP00000134273 (fasta)

Gene Model

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

AlphaFold

G3UYY4

Predicted Effect

probably benign
Transcript: ENSMUST00000172939
AA Change: H831L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: H831L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prkd3	A	T	17: 79,269,974 (GRCm39)	C562*	probably null	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
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
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'- CATGGAGTACTTCCTGGAGAGAG -3'
(R):5'- TTCCGGTAAATGGCTCCACG -3'

Sequencing Primer
(F):5'- CTTCCTGGAGAGAGAAAGTATTTCC -3'
(R):5'- TACAGTACACAAATGCCAGATTTC -3'

Posted On

2019-10-17