Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Skint6'

408355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

112804616-113286973 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113012956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 602 (I602V)

Ref Sequence

ENSEMBL: ENSMUSP00000132312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138966] [ENSMUST00000171224]

AlphaFold

A7XUZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000138966
AA Change: I602V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121870
Gene: ENSMUSG00000087194
AA Change: I602V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.32e-8	SMART
internal_repeat_1	219	594	1.11e-41	PROSPERO
low complexity region	601	610	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC
internal_repeat_1	701	1076	1.11e-41	PROSPERO
transmembrane domain	1087	1104	N/A	INTRINSIC
transmembrane domain	1164	1186	N/A	INTRINSIC
transmembrane domain	1206	1228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171224
AA Change: I602V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132312
Gene: ENSMUSG00000087194
AA Change: I602V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.32e-8	SMART
internal_repeat_1	219	594	1.11e-41	PROSPERO
low complexity region	601	610	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC
internal_repeat_1	701	1076	1.11e-41	PROSPERO
transmembrane domain	1087	1104	N/A	INTRINSIC
transmembrane domain	1164	1186	N/A	INTRINSIC
transmembrane domain	1206	1228	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
4930452B06Rik	A	G	14: 8,511,113	S434P	probably damaging	Het
4931406B18Rik	A	G	7: 43,495,633	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,940,369	S200R	possibly damaging	Het
Adam29	T	C	8: 55,873,065	D118G	probably damaging	Het
Adh4	A	G	3: 138,429,145	D360G	probably benign	Het
Ankle2	A	G	5: 110,251,610	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,273,373		probably benign	Het
Ap1g2	T	A	14: 55,106,047	I28F	probably damaging	Het
Baz2a	C	T	10: 128,125,146	T1608I	possibly damaging	Het
C530008M17Rik	A	G	5: 76,857,616	D608G	unknown	Het
Cacnb4	T	C	2: 52,474,882	D123G	probably damaging	Het
Cage1	G	A	13: 38,028,147	T51M	probably benign	Het
Ccdc63	A	G	5: 122,122,813	V216A	probably benign	Het
Ccnd2	A	G	6: 127,148,878	V65A	probably damaging	Het
Chd3	T	A	11: 69,354,404	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,677		probably benign	Het
Cobl	G	T	11: 12,254,241	N813K	possibly damaging	Het
Cog5	G	A	12: 31,790,922	V249M	probably damaging	Het
Cps1	A	G	1: 67,142,921	N98S	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,713	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,294,317	V603A	possibly damaging	Het
F12	A	G	13: 55,421,519		probably benign	Het
Ficd	G	A	5: 113,736,929	V20I	probably benign	Het
Gatad2b	G	T	3: 90,341,937	G94V	probably benign	Het
Gm4845	G	A	1: 141,256,665		noncoding transcript	Het
Hrnr	G	A	3: 93,320,601	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,102,412	S584P	probably damaging	Het
Klk1b24	C	A	7: 44,191,366	Q73K	probably benign	Het
Lrp10	C	A	14: 54,469,162	N518K	possibly damaging	Het
Lsr	A	G	7: 30,959,281	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,709,703	M1K	probably null	Het
Mprip	T	A	11: 59,741,115		probably null	Het
Myo3b	G	T	2: 70,426,816		probably benign	Het
Olfr1019	T	C	2: 85,841,072	T240A	probably damaging	Het
Olfr123	T	A	17: 37,796,271	Y276N	probably damaging	Het
Olfr1463	C	T	19: 13,235,054	S268L	probably damaging	Het
Olfr32	A	T	2: 90,138,662	I159N	possibly damaging	Het
Olfr365	T	C	2: 37,201,871	V210A	probably benign	Het
Oprd1	A	G	4: 132,117,385	F104S	possibly damaging	Het
Palb2	A	G	7: 122,113,256	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,490,733	D372V	probably damaging	Het
Phc3	A	G	3: 30,936,853	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,641,947		probably benign	Het
Pik3ip1	A	G	11: 3,333,259	K57E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,596,902	V4169A	probably benign	Het
Pkhd1l1	G	A	15: 44,591,976	M4044I	probably benign	Het
Pklr	A	T	3: 89,142,656	I313F	probably damaging	Het
Plxna4	T	A	6: 32,202,225	T952S	probably benign	Het
Pop4	A	T	7: 38,263,306	I178N	probably damaging	Het
Prss40	A	C	1: 34,558,101	V122G	probably damaging	Het
Rapgef2	C	A	3: 79,074,307		probably null	Het
Rbm19	A	G	5: 120,131,246	D538G	probably damaging	Het
Rnf44	G	A	13: 54,681,990	R312*	probably null	Het
Rock1	T	C	18: 10,070,215		probably benign	Het
Rrp1b	A	G	17: 32,056,901	E474G	probably damaging	Het
Ryr2	T	A	13: 11,684,479	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,939,505	S801P	probably damaging	Het
Slc6a19	C	A	13: 73,700,471	V55L	probably damaging	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Trappc11	C	A	8: 47,513,929	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,286,846	W75*	probably null	Het
Vmn2r52	A	G	7: 10,158,872	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,381,315	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,044,968	K74M	probably damaging	Het
Wrn	T	A	8: 33,248,961	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,580,845	T82A	probably benign	Het
Zfp82	T	C	7: 30,057,465	E64G	probably benign	Het

Other mutations in Skint6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Skint6	APN	4	112804682	missense	possibly damaging	0.96
IGL01296:Skint6	APN	4	113236440	missense	probably benign	0.37
IGL01343:Skint6	APN	4	113283626	missense	probably benign	0.07
IGL01543:Skint6	APN	4	112899963	missense	probably benign	0.18
IGL01633:Skint6	APN	4	113238049	missense	probably damaging	1.00
IGL01818:Skint6	APN	4	112948569	missense	probably benign	0.18
IGL02124:Skint6	APN	4	113087796	missense	probably benign
IGL02517:Skint6	APN	4	112948540	splice site	probably benign
IGL02647:Skint6	APN	4	113127891	splice site	probably benign
IGL02887:Skint6	APN	4	113238184	nonsense	probably null
IGL03026:Skint6	APN	4	112991244	splice site	probably null
meissner	UTSW	4	112804694	missense	possibly damaging	0.86
Tegmentum	UTSW	4	112842822	splice site	probably null
PIT4576001:Skint6	UTSW	4	113053367	missense	possibly damaging	0.91
R0058:Skint6	UTSW	4	113046815	splice site	probably benign
R0058:Skint6	UTSW	4	113046815	splice site	probably benign
R0099:Skint6	UTSW	4	112811501	missense	possibly damaging	0.53
R0158:Skint6	UTSW	4	113184814	splice site	probably benign
R0164:Skint6	UTSW	4	112991236	splice site	probably benign
R0312:Skint6	UTSW	4	112809100	missense	possibly damaging	0.86
R0591:Skint6	UTSW	4	112858169	splice site	probably benign
R0762:Skint6	UTSW	4	112865651	splice site	probably benign
R0941:Skint6	UTSW	4	113238358	missense	probably damaging	1.00
R1023:Skint6	UTSW	4	113238103	missense	probably benign	0.20
R1132:Skint6	UTSW	4	112898099	critical splice donor site	probably null
R1228:Skint6	UTSW	4	112854452	missense	probably benign
R1338:Skint6	UTSW	4	113012961	missense	possibly damaging	0.53
R1432:Skint6	UTSW	4	112869524	splice site	probably benign
R1512:Skint6	UTSW	4	113238132	missense	probably damaging	1.00
R1577:Skint6	UTSW	4	113148523	missense	possibly damaging	0.53
R1733:Skint6	UTSW	4	113177037	splice site	probably benign
R1762:Skint6	UTSW	4	113236481	missense	probably damaging	0.98
R1891:Skint6	UTSW	4	112846696	missense	possibly damaging	0.85
R1908:Skint6	UTSW	4	112891990	missense	probably benign
R2069:Skint6	UTSW	4	113238132	missense	probably damaging	1.00
R2089:Skint6	UTSW	4	112846684	missense	probably benign
R2091:Skint6	UTSW	4	112846684	missense	probably benign
R2091:Skint6	UTSW	4	112846684	missense	probably benign
R2144:Skint6	UTSW	4	113236260	missense	possibly damaging	0.84
R2166:Skint6	UTSW	4	112854452	missense	probably benign	0.01
R2192:Skint6	UTSW	4	112865712	nonsense	probably null
R2267:Skint6	UTSW	4	112842822	splice site	probably null
R2312:Skint6	UTSW	4	113238142	missense	probably damaging	1.00
R2324:Skint6	UTSW	4	112872457	splice site	probably null
R2342:Skint6	UTSW	4	113176983	missense	probably benign	0.00
R3028:Skint6	UTSW	4	113236493	missense	possibly damaging	0.92
R3704:Skint6	UTSW	4	113136472	missense	possibly damaging	0.86
R3752:Skint6	UTSW	4	112842899	splice site	probably benign
R3760:Skint6	UTSW	4	112937458	missense	possibly damaging	0.53
R3827:Skint6	UTSW	4	112937437	missense	probably benign
R4377:Skint6	UTSW	4	113236518	missense	possibly damaging	0.90
R4406:Skint6	UTSW	4	113156486	missense	probably benign	0.01
R4611:Skint6	UTSW	4	113074076	missense	probably benign
R4780:Skint6	UTSW	4	113236397	missense	probably damaging	0.98
R4788:Skint6	UTSW	4	113238336	missense	possibly damaging	0.54
R4818:Skint6	UTSW	4	112955392	intron	probably benign
R4900:Skint6	UTSW	4	113067470	missense	probably benign	0.03
R4972:Skint6	UTSW	4	112835068	missense	probably benign
R5008:Skint6	UTSW	4	112991255	missense	possibly damaging	0.86
R5016:Skint6	UTSW	4	113171533	critical splice acceptor site	probably null
R5085:Skint6	UTSW	4	113236268	missense	probably damaging	0.99
R5165:Skint6	UTSW	4	112865668	missense	possibly damaging	0.86
R5221:Skint6	UTSW	4	112894924	splice site	probably null
R5310:Skint6	UTSW	4	113184768	nonsense	probably null
R5423:Skint6	UTSW	4	112850740	missense	possibly damaging	0.93
R5436:Skint6	UTSW	4	113096591	missense	probably benign	0.08
R5447:Skint6	UTSW	4	113105909	missense	probably benign	0.34
R5564:Skint6	UTSW	4	112988965	missense	possibly damaging	0.72
R5629:Skint6	UTSW	4	113012979	missense	possibly damaging	0.86
R5936:Skint6	UTSW	4	113096593	missense	probably benign	0.33
R5993:Skint6	UTSW	4	112809079	missense	probably benign	0.02
R6027:Skint6	UTSW	4	113096564	splice site	probably null
R6174:Skint6	UTSW	4	112839313	missense	possibly damaging	0.53
R6497:Skint6	UTSW	4	113236398	missense	probably damaging	0.98
R6552:Skint6	UTSW	4	113067490	missense	possibly damaging	0.86
R6645:Skint6	UTSW	4	112892038	missense	possibly damaging	0.53
R6810:Skint6	UTSW	4	112948380	splice site	probably null
R7003:Skint6	UTSW	4	113105912	missense	probably benign	0.01
R7211:Skint6	UTSW	4	113238369	missense	probably benign	0.09
R7269:Skint6	UTSW	4	112854489	splice site	probably null
R7398:Skint6	UTSW	4	112898138	missense	probably benign	0.00
R7438:Skint6	UTSW	4	113238228	missense	probably damaging	1.00
R7461:Skint6	UTSW	4	113177046	splice site	probably null
R7536:Skint6	UTSW	4	112811547	critical splice acceptor site	probably null
R7613:Skint6	UTSW	4	113177046	splice site	probably null
R7956:Skint6	UTSW	4	112846697	missense	possibly damaging	0.85
R8118:Skint6	UTSW	4	112865675	missense	possibly damaging	0.53
R8118:Skint6	UTSW	4	113156494	missense	possibly damaging	0.73
R8197:Skint6	UTSW	4	112894843	splice site	probably null
R8218:Skint6	UTSW	4	112839274	splice site	probably null
R8344:Skint6	UTSW	4	113236445	missense	probably damaging	1.00
R8518:Skint6	UTSW	4	113238268	missense	possibly damaging	0.58
R8776:Skint6	UTSW	4	112804688	missense	possibly damaging	0.96
R8776-TAIL:Skint6	UTSW	4	112804688	missense	possibly damaging	0.96
R8794:Skint6	UTSW	4	113192672	missense	possibly damaging	0.73
R8796:Skint6	UTSW	4	112804694	missense	possibly damaging	0.86
R8812:Skint6	UTSW	4	112988952	missense	probably benign	0.00
R8866:Skint6	UTSW	4	112854453	missense	probably benign
R8881:Skint6	UTSW	4	112815519	missense	possibly damaging	0.53
R8949:Skint6	UTSW	4	113074099	missense	probably benign	0.04
R8967:Skint6	UTSW	4	112872504	nonsense	probably null
R9005:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9007:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9053:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9055:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9144:Skint6	UTSW	4	113127905	missense	possibly damaging	0.73
R9149:Skint6	UTSW	4	113176976	missense	probably damaging	0.98
R9297:Skint6	UTSW	4	112811520	missense	probably benign	0.00
R9388:Skint6	UTSW	4	113192641	missense	possibly damaging	0.85
R9407:Skint6	UTSW	4	113177027	missense	possibly damaging	0.53
R9475:Skint6	UTSW	4	112806840	critical splice donor site	probably null
R9515:Skint6	UTSW	4	112858178	missense	probably benign
R9572:Skint6	UTSW	4	113127931	missense	probably benign
R9689:Skint6	UTSW	4	113236349	missense	probably damaging	0.99
R9744:Skint6	UTSW	4	112809163	missense	probably damaging	1.00
R9785:Skint6	UTSW	4	112883687	missense	possibly damaging	0.86
Z1176:Skint6	UTSW	4	112892014	missense	possibly damaging	0.53
Z1176:Skint6	UTSW	4	113238294	missense	probably damaging	0.96
Z1176:Skint6	UTSW	4	113238295	missense	possibly damaging	0.83
Z1177:Skint6	UTSW	4	112806928	missense	possibly damaging	0.96
Z1177:Skint6	UTSW	4	113105961	critical splice acceptor site	probably null

Posted On

2016-08-02