Mutagenetix > Incidental Mutations

Incidental Mutation 'R5808:Ttc6'

448857

Institutional Source

Beutler Lab

Gene Symbol

Ttc6

Ensembl Gene

ENSMUSG00000046782

Gene Name

tetratricopeptide repeat domain 6

Synonyms

EG639426, LOC217602, Gm9813

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57564113-57737928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57617611 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 383 (S383R)

Ref Sequence

ENSEMBL: ENSMUSP00000134273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101398] [ENSMUST00000172939]

Predicted Effect

probably benign
Transcript: ENSMUST00000101398
AA Change: S383R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000098946
Gene: ENSMUSG00000046782
AA Change: S383R

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

noncoding transcript
Transcript: ENSMUST00000143949

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172939
AA Change: S383R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: S383R

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,450,648	R6W	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,913		probably benign	Het
Ahnak	T	A	19: 9,010,235	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,708,197	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,146,322	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,221,958	V866E	probably benign	Het
Bmpr2	A	T	1: 59,867,401	Y551F	probably benign	Het
Cage1	A	G	13: 38,022,325		probably benign	Het
Caskin2	G	T	11: 115,801,763	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,517,826		probably null	Het
Ccdc162	A	T	10: 41,655,504	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,780,645	D197G	probably damaging	Het
CN725425	T	A	15: 91,245,644	S237T	probably benign	Het
Defb40	T	C	8: 18,975,079	H37R	probably benign	Het
Dis3l2	A	C	1: 87,049,638	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,741,159	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 66,865,172		probably null	Het
Dsc1	A	T	18: 20,086,829	C761*	probably null	Het
Dsg1b	A	T	18: 20,408,725	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,883,994	P251L	probably benign	Het
Epha6	A	T	16: 59,682,742	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,970,382	E122G	probably damaging	Het
Filip1	C	T	9: 79,818,701	G879R	possibly damaging	Het
Frem2	A	T	3: 53,652,563	F1508I	probably damaging	Het
Gja1	A	G	10: 56,388,498	N318D	probably benign	Het
Gm11564	T	C	11: 99,815,041	S188G	unknown	Het
Hlcs	A	G	16: 94,262,632	V523A	probably benign	Het
Kif1a	C	A	1: 93,042,698	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,910,082	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,294,449	L453S	probably damaging	Het
Mcf2l	A	G	8: 12,993,937	M1V	probably null	Het
Megf6	A	G	4: 154,267,662	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,683,781	I631N	probably benign	Het
Muc6	T	C	7: 141,640,093		probably benign	Het
Mybpc1	T	C	10: 88,570,566	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,829,301	F1017L	probably benign	Het
Nup62	A	C	7: 44,829,992	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,210,232	I42F	probably benign	Het
Ptprb	G	A	10: 116,339,487	R1129K	probably benign	Het
Rexo4	T	A	2: 26,964,185	K45I	probably damaging	Het
Rnf213	G	A	11: 119,436,295	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,772,184	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc41a2	T	C	10: 83,313,498	T194A	probably benign	Het
Slc4a10	G	A	2: 62,250,472	A348T	probably damaging	Het
Soat2	G	A	15: 102,154,025		probably null	Het
Srms	T	C	2: 181,208,755	S204G	probably benign	Het
Szt2	G	A	4: 118,372,613	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,908,541	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,560,243	R29H	probably benign	Het
Trappc12	T	A	12: 28,746,864	D223V	probably damaging	Het
Ubr1	C	T	2: 120,961,092	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,815,638	C641*	probably null	Het
Vrk3	A	G	7: 44,759,874	D155G	probably damaging	Het
Xxylt1	T	C	16: 31,050,685	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,423,570	D262E	probably benign	Het
Zcchc9	A	T	13: 91,800,647	S58T	probably benign	Het
Zfyve16	A	T	13: 92,495,055	L1344*	probably null	Het

Other mutations in Ttc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03278:Ttc6	APN	12	57622026	missense	probably damaging	0.99
IGL02802:Ttc6	UTSW	12	57575868	missense	probably benign	0.14
PIT4802001:Ttc6	UTSW	12	57725676	missense	possibly damaging	0.89
R0698:Ttc6	UTSW	12	57673216	missense	probably benign	0.04
R0988:Ttc6	UTSW	12	57688649	splice site	probably benign
R1290:Ttc6	UTSW	12	57660413	missense	probably benign	0.00
R1338:Ttc6	UTSW	12	57616369	missense	probably benign	0.10
R1468:Ttc6	UTSW	12	57674677	missense	possibly damaging	0.54
R1468:Ttc6	UTSW	12	57674677	missense	possibly damaging	0.54
R1481:Ttc6	UTSW	12	57737130	missense	probably damaging	1.00
R1488:Ttc6	UTSW	12	57649515	missense	possibly damaging	0.66
R1558:Ttc6	UTSW	12	57686346	missense	probably benign	0.14
R1570:Ttc6	UTSW	12	57674763	missense	probably damaging	0.98
R1619:Ttc6	UTSW	12	57737668	missense	possibly damaging	0.73
R1819:Ttc6	UTSW	12	57694500	critical splice donor site	probably null
R1826:Ttc6	UTSW	12	57660247	missense	probably benign	0.10
R1863:Ttc6	UTSW	12	57714095	missense	probably benign	0.04
R1872:Ttc6	UTSW	12	57704552	critical splice donor site	probably null
R1887:Ttc6	UTSW	12	57673258	missense	probably benign	0.04
R1937:Ttc6	UTSW	12	57616323	missense	probably benign	0.02
R2014:Ttc6	UTSW	12	57576217	missense	possibly damaging	0.92
R2056:Ttc6	UTSW	12	57737693	missense	probably benign	0.08
R2058:Ttc6	UTSW	12	57737693	missense	probably benign	0.08
R2059:Ttc6	UTSW	12	57737693	missense	probably benign	0.08
R2152:Ttc6	UTSW	12	57705552	missense	probably damaging	0.98
R2179:Ttc6	UTSW	12	57673118	missense	possibly damaging	0.62
R2275:Ttc6	UTSW	12	57702298	missense	probably benign	0.01
R2432:Ttc6	UTSW	12	57622035	missense	possibly damaging	0.79
R2474:Ttc6	UTSW	12	57575927	missense	probably benign	0.37
R2853:Ttc6	UTSW	12	57576181	missense	probably damaging	0.96
R3848:Ttc6	UTSW	12	57677146	missense	probably damaging	0.97
R3853:Ttc6	UTSW	12	57728549	missense	possibly damaging	0.88
R3950:Ttc6	UTSW	12	57649506	missense	probably damaging	0.97
R3953:Ttc6	UTSW	12	57697452	missense	probably benign	0.03
R3954:Ttc6	UTSW	12	57697452	missense	probably benign	0.03
R3955:Ttc6	UTSW	12	57697452	missense	probably benign	0.03
R3957:Ttc6	UTSW	12	57697452	missense	probably benign	0.03
R4135:Ttc6	UTSW	12	57632795	intron	probably benign
R4387:Ttc6	UTSW	12	57643050	missense	probably benign	0.00
R4577:Ttc6	UTSW	12	57576655	missense	probably benign	0.22
R4747:Ttc6	UTSW	12	57674692	missense	possibly damaging	0.86
R4779:Ttc6	UTSW	12	57729451	missense	probably damaging	1.00
R4803:Ttc6	UTSW	12	57728505	missense	probably damaging	1.00
R4871:Ttc6	UTSW	12	57702356	missense	probably damaging	0.96
R4898:Ttc6	UTSW	12	57660240	missense	probably benign	0.00
R4930:Ttc6	UTSW	12	57673823	critical splice donor site	probably null
R4946:Ttc6	UTSW	12	57643140	missense	probably benign	0.01
R5257:Ttc6	UTSW	12	57702275	missense	possibly damaging	0.92
R5303:Ttc6	UTSW	12	57575820	missense	possibly damaging	0.90
R5385:Ttc6	UTSW	12	57643035	splice site	probably null
R5402:Ttc6	UTSW	12	57737031	nonsense	probably null
R5428:Ttc6	UTSW	12	57689834	missense	probably null	0.98
R5436:Ttc6	UTSW	12	57674594	splice site	probably null
R5646:Ttc6	UTSW	12	57576019	missense	probably damaging	0.99
R5697:Ttc6	UTSW	12	57677214	missense	probably benign	0.22
R5792:Ttc6	UTSW	12	57673204	missense	possibly damaging	0.71
R5842:Ttc6	UTSW	12	57737016	missense	probably damaging	1.00
R5935:Ttc6	UTSW	12	57673804	missense	probably damaging	0.98
R6144:Ttc6	UTSW	12	57673100	missense	possibly damaging	0.83
R6155:Ttc6	UTSW	12	57737616	missense	possibly damaging	0.84
R6283:Ttc6	UTSW	12	57702262	missense	possibly damaging	0.95
R6371:Ttc6	UTSW	12	57728463	missense	possibly damaging	0.89
R6715:Ttc6	UTSW	12	57674770	critical splice donor site	probably null
R6738:Ttc6	UTSW	12	57688640	missense	probably damaging	0.99
R6795:Ttc6	UTSW	12	57704413	missense	probably damaging	0.96
R6959:Ttc6	UTSW	12	57658142	splice site	probably null
R7053:Ttc6	UTSW	12	57660532	missense	probably benign	0.01
R7125:Ttc6	UTSW	12	57576339	missense	probably benign	0.00
R7259:Ttc6	UTSW	12	57576184	missense	probably benign	0.00
R7304:Ttc6	UTSW	12	57576051	missense	probably damaging	0.96
R7369:Ttc6	UTSW	12	57672931	critical splice acceptor site	probably null
R7409:Ttc6	UTSW	12	57696986	missense	probably damaging	0.99
R7429:Ttc6	UTSW	12	57658102	missense	probably benign	0.00
R7430:Ttc6	UTSW	12	57658102	missense	probably benign	0.00
R7492:Ttc6	UTSW	12	57673136	missense	probably benign	0.02
R7535:Ttc6	UTSW	12	57576519	missense	probably benign	0.00
R7866:Ttc6	UTSW	12	57674649	missense	probably damaging	0.97
R7901:Ttc6	UTSW	12	57688567	missense	probably damaging	1.00
R7944:Ttc6	UTSW	12	57660443	missense	possibly damaging	0.46
R7945:Ttc6	UTSW	12	57660443	missense	possibly damaging	0.46
R7965:Ttc6	UTSW	12	57673756	missense	possibly damaging	0.85
R8062:Ttc6	UTSW	12	57736978	missense	possibly damaging	0.90
R8119:Ttc6	UTSW	12	57705643	missense	possibly damaging	0.78
R8142:Ttc6	UTSW	12	57697472	missense	possibly damaging	0.87
R8154:Ttc6	UTSW	12	57729424	missense	probably damaging	1.00
R8171:Ttc6	UTSW	12	57673310	missense	probably damaging	1.00
R8335:Ttc6	UTSW	12	57660291	missense	probably benign	0.00
R8343:Ttc6	UTSW	12	57660496	missense	possibly damaging	0.47
X0021:Ttc6	UTSW	12	57576118	missense	probably damaging	0.96
X0058:Ttc6	UTSW	12	57706851	missense	probably damaging	0.99
Z1176:Ttc6	UTSW	12	57697375	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CAGCCGAGCATTTATGAGGAG -3'
(R):5'- AGTTTCTGAAGAGCCCGGATG -3'

Sequencing Primer
(F):5'- AGCATTTATGAGGAGCTCCC -3'
(R):5'- TAGAGAATCAGTCCTTCATCCCAAG -3'

Posted On

2016-12-15