Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00772:Skint8'

14032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint8

Ensembl Gene

ENSMUSG00000078599

Gene Name

selection and upkeep of intraepithelial T cells 8

Synonyms

OTTMUSG00000009475

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL00772

Quality Score

Status

Chromosome

Chromosomal Location

111776643-111807558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111796120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 265 (I265V)

Ref Sequence

ENSEMBL: ENSMUSP00000133268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106572] [ENSMUST00000165046]

AlphaFold

A7XV07

Predicted Effect

probably benign
Transcript: ENSMUST00000106572
AA Change: I265V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: I265V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	3.13e-5	SMART
Blast:IG_like	148	231	9e-16	BLAST
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	285	307	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124862

Predicted Effect

probably benign
Transcript: ENSMUST00000165046
AA Change: I265V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: I265V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	3.13e-5	SMART
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	285	307	N/A	INTRINSIC
transmembrane domain	327	352	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	T	1: 59,209,055 (GRCm39)	C1501*	probably null	Het
Ap3b2	T	C	7: 81,121,697 (GRCm39)	E513G	probably damaging	Het
Cdh19	T	C	1: 110,876,982 (GRCm39)	D119G	probably damaging	Het
Clasp2	A	G	9: 113,735,060 (GRCm39)		probably benign	Het
Cobl	A	G	11: 12,216,985 (GRCm39)	M419T	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Ctu2	T	C	8: 123,203,977 (GRCm39)		probably benign	Het
Dnah2	A	C	11: 69,342,083 (GRCm39)	Y2968D	probably damaging	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Folh1	A	G	7: 86,380,992 (GRCm39)	S494P	probably damaging	Het
Fras1	T	A	5: 96,783,971 (GRCm39)	I825N	probably benign	Het
Grk1	A	G	8: 13,455,349 (GRCm39)	T78A	probably benign	Het
Lipi	A	T	16: 75,347,254 (GRCm39)		probably benign	Het
Mak	A	T	13: 41,209,296 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,430,199 (GRCm39)	E636G	probably damaging	Het
Psmd1	T	C	1: 86,017,920 (GRCm39)		probably benign	Het
Scara5	G	A	14: 65,908,011 (GRCm39)		probably benign	Het
Slc48a1	A	G	15: 97,687,835 (GRCm39)	Y63C	probably damaging	Het
Slc4a2	G	T	5: 24,640,194 (GRCm39)	V598L	probably damaging	Het
Smo	A	T	6: 29,758,893 (GRCm39)	K565*	probably null	Het
Spink5	A	G	18: 44,139,487 (GRCm39)	I617V	probably benign	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tro	A	G	X: 149,438,321 (GRCm39)	V112A	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het

Other mutations in Skint8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Skint8	APN	4	111,794,103 (GRCm39)	missense	probably damaging	0.97
IGL02973:Skint8	APN	4	111,796,790 (GRCm39)	missense	probably benign	0.09
IGL03154:Skint8	APN	4	111,796,707 (GRCm39)	splice site	probably null
FR4976:Skint8	UTSW	4	111,796,099 (GRCm39)	missense	probably benign	0.02
R0309:Skint8	UTSW	4	111,796,064 (GRCm39)	missense	probably benign	0.02
R0448:Skint8	UTSW	4	111,794,087 (GRCm39)	missense	probably damaging	1.00
R0483:Skint8	UTSW	4	111,796,020 (GRCm39)	splice site	probably benign
R0586:Skint8	UTSW	4	111,794,126 (GRCm39)	missense	probably damaging	1.00
R1076:Skint8	UTSW	4	111,784,416 (GRCm39)	missense	probably damaging	1.00
R1169:Skint8	UTSW	4	111,785,710 (GRCm39)	missense	possibly damaging	0.86
R1588:Skint8	UTSW	4	111,785,924 (GRCm39)	nonsense	probably null
R1707:Skint8	UTSW	4	111,796,769 (GRCm39)	missense	probably damaging	1.00
R1865:Skint8	UTSW	4	111,794,192 (GRCm39)	missense	probably damaging	1.00
R1954:Skint8	UTSW	4	111,807,278 (GRCm39)	missense	possibly damaging	0.54
R2147:Skint8	UTSW	4	111,794,274 (GRCm39)	missense	probably damaging	1.00
R2896:Skint8	UTSW	4	111,807,333 (GRCm39)	missense	probably null
R4945:Skint8	UTSW	4	111,796,805 (GRCm39)	missense	probably damaging	0.96
R5019:Skint8	UTSW	4	111,785,845 (GRCm39)	missense	probably damaging	0.99
R5281:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5284:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5289:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5309:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5310:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5588:Skint8	UTSW	4	111,794,089 (GRCm39)	missense	probably benign	0.01
R5636:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5637:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5638:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5639:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5719:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5720:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5754:Skint8	UTSW	4	111,807,387 (GRCm39)	missense	probably benign
R5850:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5855:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R6036:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R6525:Skint8	UTSW	4	111,785,935 (GRCm39)	missense	probably damaging	0.98
R6554:Skint8	UTSW	4	111,784,413 (GRCm39)	missense	probably benign	0.35
R6578:Skint8	UTSW	4	111,794,159 (GRCm39)	missense	probably benign	0.03
R6841:Skint8	UTSW	4	111,785,968 (GRCm39)	missense	probably damaging	1.00
R7000:Skint8	UTSW	4	111,794,222 (GRCm39)	missense	probably benign	0.16
R7317:Skint8	UTSW	4	111,796,717 (GRCm39)	missense	possibly damaging	0.94
R7336:Skint8	UTSW	4	111,796,769 (GRCm39)	missense	probably benign	0.32
R7412:Skint8	UTSW	4	111,785,758 (GRCm39)	missense	probably benign	0.07
R7480:Skint8	UTSW	4	111,785,784 (GRCm39)	nonsense	probably null
R8027:Skint8	UTSW	4	111,785,936 (GRCm39)	missense	probably benign	0.36
R8204:Skint8	UTSW	4	111,796,090 (GRCm39)	missense	probably benign	0.03
R8963:Skint8	UTSW	4	111,794,241 (GRCm39)	missense	probably benign	0.03
R9084:Skint8	UTSW	4	111,794,210 (GRCm39)	missense	probably benign	0.11
R9249:Skint8	UTSW	4	111,794,159 (GRCm39)	missense	probably damaging	0.98
R9283:Skint8	UTSW	4	111,785,644 (GRCm39)	missense	probably damaging	0.99
Z1177:Skint8	UTSW	4	111,794,251 (GRCm39)	missense	probably benign	0.39

Posted On

2012-12-06