Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03278:Ttc6'

415475

Institutional Source

Australian Phenomics Network (link to record)

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: 0.103) question?

Stock #

IGL03278

Quality Score

Status

Chromosome

Chromosomal Location

57564113-57737928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57622026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 418 (K418I)

Ref Sequence

ENSEMBL: ENSMUSP00000098946 (fasta)

Gene Model

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

AlphaFold

G3UYY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000101398
AA Change: K418I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098946
Gene: ENSMUSG00000046782
AA Change: K418I

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

probably benign
Transcript: ENSMUST00000172939
AA Change: K418I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134273
Gene: ENSMUSG00000046782
AA Change: K418I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,158,825		probably benign	Het
Acss2	A	G	2: 155,562,001	D676G	possibly damaging	Het
Antxr1	A	G	6: 87,204,457		probably benign	Het
Ccdc134	C	T	15: 82,131,481	A54V	possibly damaging	Het
Ccdc40	A	T	11: 119,242,510	I465F	probably damaging	Het
Cdk5rap1	A	T	2: 154,370,702	S79T	probably benign	Het
Col6a6	T	C	9: 105,709,452	E1790G	probably benign	Het
Cops8	C	A	1: 90,604,365		probably null	Het
Dnah7a	T	C	1: 53,496,965	T2640A	probably benign	Het
F2	G	A	2: 91,635,182	A86V	probably benign	Het
Fam160a2	C	A	7: 105,385,124	M433I	possibly damaging	Het
Gabrb1	T	G	5: 71,869,596	D113E	probably damaging	Het
Git2	C	A	5: 114,745,579		probably benign	Het
Git2	A	T	5: 114,745,580		probably null	Het
Gm4847	A	T	1: 166,635,036	I295N	probably benign	Het
H2-M10.6	C	A	17: 36,813,823	H211N	probably damaging	Het
Hmgcr	A	G	13: 96,656,762		probably benign	Het
Larp1	T	C	11: 58,044,056		probably benign	Het
Lrguk	A	G	6: 34,116,446	E634G	possibly damaging	Het
Nanog	A	G	6: 122,711,745	Y95C	probably damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Nfe2l1	C	A	11: 96,822,192	R55L	probably benign	Het
Olfr161	C	T	16: 3,593,107	A237V	possibly damaging	Het
Pkmyt1	A	G	17: 23,734,247	E259G	probably damaging	Het
Pld4	A	G	12: 112,766,731	N247S	probably damaging	Het
Prdm4	A	T	10: 85,907,758	M211K	probably damaging	Het
Rab37	A	C	11: 115,159,691	I121L	possibly damaging	Het
Rabl6	T	C	2: 25,583,822		probably benign	Het
Slc34a3	A	T	2: 25,232,047	V154E	probably benign	Het
Slc38a9	T	G	13: 112,689,518		probably benign	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stk24	T	C	14: 121,302,770	K139R	possibly damaging	Het
Tacc2	T	C	7: 130,733,568		probably null	Het
Tap1	A	T	17: 34,191,483	K378M	probably damaging	Het
Tfr2	A	T	5: 137,571,036	R10*	probably null	Het
Trim38	A	G	13: 23,790,996	D306G	possibly damaging	Het
Ush2a	T	A	1: 188,849,116	L3731Q	probably damaging	Het
Vmn2r89	A	T	14: 51,455,100	Y120F	probably damaging	Het
Vps35	A	T	8: 85,294,961		probably benign	Het

Other mutations in Ttc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
polonius	UTSW	12	57658142	splice site	probably null
tybalt	UTSW	12	57673756	missense	possibly damaging	0.85
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
R5808:Ttc6	UTSW	12	57617611	missense	possibly damaging	0.84
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
R8696:Ttc6	UTSW	12	57737706	missense	probably benign	0.20
R8875:Ttc6	UTSW	12	57704413	missense	probably damaging	0.96
R8875:Ttc6	UTSW	12	57729408	missense	possibly damaging	0.46
R8876:Ttc6	UTSW	12	57737703	missense	possibly damaging	0.81
R8924:Ttc6	UTSW	12	57651004	nonsense	probably null
R8944:Ttc6	UTSW	12	57643040	missense
R8956:Ttc6	UTSW	12	57728410	nonsense	probably null
R9009:Ttc6	UTSW	12	57697433	missense	probably damaging	1.00
R9020:Ttc6	UTSW	12	57705580	missense	probably damaging	1.00
R9051:Ttc6	UTSW	12	57737163	missense	probably damaging	1.00
R9232:Ttc6	UTSW	12	57729424	missense	probably damaging	1.00
R9291:Ttc6	UTSW	12	57575944	missense	probably damaging	0.99
R9304:Ttc6	UTSW	12	57729331	missense	probably damaging	0.99
R9309:Ttc6	UTSW	12	57706863	missense	possibly damaging	0.69
R9331:Ttc6	UTSW	12	57673723	missense	probably damaging	1.00
R9398:Ttc6	UTSW	12	57737618	nonsense	probably null
R9430:Ttc6	UTSW	12	57686407	missense	probably damaging	1.00
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

Posted On

2016-08-02