Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Ttc6'

392106

Institutional Source

Beutler Lab

Gene Symbol

Ttc6

Ensembl Gene

ENSMUSG00000046782

Gene Name

tetratricopeptide repeat domain 6

Synonyms

LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02802 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

57610899-57784714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57622654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 18 (M18L)

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: M18L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098946
Gene: ENSMUSG00000046782
AA Change: M18L

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

Predicted Effect

unknown
Transcript: ENSMUST00000172939
AA Change: M18L

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: M18L

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

0.0604

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly 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
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
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'- TTCTATACAGAGACACTTCGCAGAAC -3'
(R):5'- AGCTCCGCATGTAGAAGTCC -3'

Sequencing Primer
(F):5'- CGCAGAACTGTAATTTTATTGCCC -3'
(R):5'- CATGTAGAAGTCCCGCGG -3'

Posted On

2016-06-09