Mutagenetix > Incidental Mutation

Incidental Mutation 'R1570:Ttc6'

177209

Institutional Source

Beutler Lab

Gene Symbol

Ttc6

Ensembl Gene

ENSMUSG00000046782

Gene Name

tetratricopeptide repeat domain 6

Synonyms

LOC217602, Gm9813, EG639426, 4921506M07Rik, AU024163

MMRRC Submission

039609-MU

Accession Numbers

Essential gene?

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

Stock #

R1570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57610899-57784714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57721549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1013 (S1013P)

Ref Sequence

ENSEMBL: ENSMUSP00000134273 (fasta)

Gene Model

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

AlphaFold

G3UYY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000172939
AA Change: S1013P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: S1013P

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

0.0886

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

93% (77/83)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec1	A	G	6: 122,568,044 (GRCm39)		probably null	Het
Arhgap21	G	T	2: 20,885,651 (GRCm39)	Q348K	probably benign	Het
Arl5c	A	G	11: 97,883,213 (GRCm39)	V129A	probably benign	Het
Armh1	A	G	4: 117,087,189 (GRCm39)	S159P	probably damaging	Het
Asb8	A	G	15: 98,034,309 (GRCm39)	L82P	probably damaging	Het
Bahcc1	G	A	11: 120,163,009 (GRCm39)	A436T	possibly damaging	Het
Btc	T	C	5: 91,550,576 (GRCm39)	D2G	unknown	Het
C1s2	G	A	6: 124,602,723 (GRCm39)	T490M	probably benign	Het
Caap1	C	T	4: 94,444,814 (GRCm39)	G43D	probably benign	Het
Ccr5	T	C	9: 123,925,000 (GRCm39)	V201A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdhr5	C	A	7: 140,851,682 (GRCm39)	G541C	probably damaging	Het
Cep170	A	G	1: 176,583,367 (GRCm39)	I1004T	possibly damaging	Het
Chd9	A	T	8: 91,763,170 (GRCm39)	M2332L	probably benign	Het
Clk1	T	A	1: 58,453,584 (GRCm39)	H334L	probably benign	Het
Cyp4b1	G	A	4: 115,493,160 (GRCm39)	S228F	probably benign	Het
Dnah9	T	C	11: 66,003,156 (GRCm39)	N883D	probably benign	Het
Dync2h1	A	G	9: 7,176,926 (GRCm39)	L11P	probably benign	Het
Ephx4	A	G	5: 107,567,717 (GRCm39)	E225G	probably damaging	Het
Erich6	C	T	3: 58,538,080 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,206,802 (GRCm39)	T89A	probably damaging	Het
Evi2	T	A	11: 79,407,076 (GRCm39)	K166N	possibly damaging	Het
Glrx5	A	G	12: 104,999,127 (GRCm39)	T57A	possibly damaging	Het
Gnptab	T	A	10: 88,255,316 (GRCm39)	V222E	probably damaging	Het
Gpr155	T	C	2: 73,200,382 (GRCm39)	Y375C	possibly damaging	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Ildr2	T	C	1: 166,131,154 (GRCm39)	F337L	probably damaging	Het
Ino80	C	T	2: 119,277,509 (GRCm39)	R322Q	possibly damaging	Het
Lcp2	A	G	11: 34,039,601 (GRCm39)	D467G	probably benign	Het
Lmbr1	A	G	5: 29,459,556 (GRCm39)	I229T	probably damaging	Het
Lnpep	A	T	17: 17,799,418 (GRCm39)	M79K	probably damaging	Het
Lpin1	T	C	12: 16,610,999 (GRCm39)	Q564R	possibly damaging	Het
Lpin2	T	A	17: 71,552,176 (GRCm39)	L794*	probably null	Het
Lrrc37	A	G	11: 103,500,764 (GRCm39)	Y597H	possibly damaging	Het
Lrrc45	T	C	11: 120,610,935 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,529,278 (GRCm39)	S751P	probably damaging	Het
Nbr1	T	C	11: 101,455,656 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,599,749 (GRCm39)	F592S	possibly damaging	Het
Nup133	T	A	8: 124,675,915 (GRCm39)	M1L	possibly damaging	Het
Or2a20	T	C	6: 43,194,285 (GRCm39)	V146A	probably benign	Het
Or3a10	A	C	11: 73,935,633 (GRCm39)	F156V	possibly damaging	Het
Or4n4	T	G	14: 50,518,981 (GRCm39)	H243P	probably damaging	Het
Or4p8	A	C	2: 88,727,290 (GRCm39)	I217S	probably damaging	Het
Or52b4i	C	A	7: 102,191,177 (GRCm39)	H11Q	probably damaging	Het
Or8i2	A	T	2: 86,852,616 (GRCm39)	S91T	probably benign	Het
Otud7b	T	C	3: 96,063,208 (GRCm39)	C816R	probably damaging	Het
Pi4k2a	T	C	19: 42,089,083 (GRCm39)	V148A	probably benign	Het
Pih1d2	T	C	9: 50,532,479 (GRCm39)	M195T	probably benign	Het
Pira13	T	C	7: 3,826,060 (GRCm39)	E311G	probably benign	Het
Plpp6	T	C	19: 28,942,178 (GRCm39)	F260L	probably damaging	Het
R3hcc1l	A	T	19: 42,570,393 (GRCm39)	T663S	probably damaging	Het
Rnf25	T	C	1: 74,634,426 (GRCm39)	E199G	probably damaging	Het
Scin	G	A	12: 40,134,380 (GRCm39)		probably benign	Het
Serpinb1c	A	T	13: 33,080,973 (GRCm39)	S37T	probably benign	Het
Snx19	A	G	9: 30,339,639 (GRCm39)	D259G	probably damaging	Het
Sorcs3	A	G	19: 48,752,620 (GRCm39)	K805R	probably damaging	Het
Sox6	C	A	7: 115,376,358 (GRCm39)	G125W	probably damaging	Het
Spink5	A	G	18: 44,100,174 (GRCm39)	I64V	probably benign	Het
Spmip10	T	A	18: 56,727,606 (GRCm39)	D101E	probably benign	Het
St6galnac1	A	G	11: 116,657,474 (GRCm39)		probably benign	Het
Sult1c2	T	C	17: 54,143,991 (GRCm39)	I105V	probably benign	Het
Tacr3	T	G	3: 134,535,517 (GRCm39)	S162A	probably damaging	Het
Zbtb11	C	A	16: 55,811,178 (GRCm39)	N445K	probably benign	Het
Zfp423	A	C	8: 88,509,186 (GRCm39)	V261G	probably benign	Het
Zfp59	T	C	7: 27,553,016 (GRCm39)	V156A	probably benign	Het
Zscan2	C	A	7: 80,513,141 (GRCm39)	A42E	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
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'- TGCAGAGGCATACTTGTCAAAGGC -3'
(R):5'- TCAGTAGGTTCCATGAAGAGGGCG -3'

Sequencing Primer
(F):5'- CTTGTCAAAGGCAGAGATTTTCAGAG -3'
(R):5'- ttccagcaccccccaag -3'

Posted On

2014-04-24