Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01344:Skint3'

74984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint3

Ensembl Gene

ENSMUSG00000070868

Gene Name

selection and upkeep of intraepithelial T cells 3

Synonyms

A430090E18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01344

Quality Score

Status

Chromosome

Chromosomal Location

112089442-112157665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112147519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 414 (M414K)

Ref Sequence

ENSEMBL: ENSMUSP00000131300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038455] [ENSMUST00000170945]

AlphaFold

A7TZF0

Predicted Effect

probably benign
Transcript: ENSMUST00000038455
AA Change: M342K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: M342K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	34	141	3.51e-8	SMART
transmembrane domain	248	270	N/A	INTRINSIC
transmembrane domain	291	313	N/A	INTRINSIC
transmembrane domain	328	350	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170945
AA Change: M414K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: M414K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	34	141	3.51e-8	SMART
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	285	304	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	384	N/A	INTRINSIC
transmembrane domain	404	426	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,020 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,923,139 (GRCm39)	K237R	possibly damaging	Het
Antxrl	A	C	14: 33,797,554 (GRCm39)	M510L	probably benign	Het
Bdp1	T	C	13: 100,214,588 (GRCm39)	D417G	probably benign	Het
C3	T	G	17: 57,531,880 (GRCm39)	N250T	probably benign	Het
Cacna2d1	T	A	5: 16,575,629 (GRCm39)	I1073K	probably benign	Het
Ccin	A	T	4: 43,984,069 (GRCm39)	N159Y	probably damaging	Het
Cep76	T	C	18: 67,756,467 (GRCm39)	T455A	possibly damaging	Het
Chaf1a	T	A	17: 56,371,104 (GRCm39)	V663E	probably damaging	Het
Chit1	T	C	1: 134,079,052 (GRCm39)	F454S	probably damaging	Het
Cimip2a	A	T	2: 25,110,345 (GRCm39)	I86F	possibly damaging	Het
Clasp2	A	G	9: 113,642,360 (GRCm39)		probably null	Het
Ctcfl	G	T	2: 172,936,527 (GRCm39)	A615E	possibly damaging	Het
Edaradd	T	C	13: 12,493,371 (GRCm39)	D107G	probably damaging	Het
Efl1	T	C	7: 82,330,688 (GRCm39)		probably benign	Het
Eps15l1	A	G	8: 73,136,169 (GRCm39)		probably null	Het
Fahd2a	T	C	2: 127,283,987 (GRCm39)	K18E	probably benign	Het
Fbxl20	A	T	11: 97,990,926 (GRCm39)	C147*	probably null	Het
Gsap	G	T	5: 21,447,881 (GRCm39)		probably null	Het
Gtse1	A	T	15: 85,746,267 (GRCm39)		probably null	Het
Kcp	A	T	6: 29,498,950 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,742,019 (GRCm39)	D687G	probably benign	Het
Mcpt8	T	A	14: 56,321,402 (GRCm39)	I21F	probably damaging	Het
Met	C	A	6: 17,547,031 (GRCm39)	S888Y	probably benign	Het
Mrtfa	T	C	15: 80,900,503 (GRCm39)	T663A	probably damaging	Het
Ngf	A	G	3: 102,427,628 (GRCm39)	T130A	probably benign	Het
Otud7b	T	A	3: 96,058,297 (GRCm39)		probably benign	Het
Preb	C	T	5: 31,113,388 (GRCm39)	V349M	probably damaging	Het
Prmt1	G	T	7: 44,627,059 (GRCm39)		probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Ptprt	T	A	2: 161,393,737 (GRCm39)	D1209V	probably damaging	Het
Rigi	G	A	4: 40,208,883 (GRCm39)	T698I	probably damaging	Het
Sh3bp4	A	G	1: 89,080,958 (GRCm39)	N925S	probably benign	Het
Skor1	A	T	9: 63,049,560 (GRCm39)	S787R	possibly damaging	Het
Slc12a7	T	A	13: 73,940,856 (GRCm39)	I288N	probably damaging	Het
Smg1	A	G	7: 117,790,059 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,022,422 (GRCm39)	T940I	probably benign	Het
Trappc11	A	T	8: 47,972,739 (GRCm39)	I278N	probably damaging	Het
Umodl1	G	A	17: 31,215,238 (GRCm39)	V1021I	probably damaging	Het
Usp24	T	C	4: 106,236,582 (GRCm39)	S1059P	possibly damaging	Het

Other mutations in Skint3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Skint3	APN	4	112,113,106 (GRCm39)	splice site	probably benign
IGL02875:Skint3	APN	4	112,113,079 (GRCm39)	missense	possibly damaging	0.88
IGL03308:Skint3	APN	4	112,111,264 (GRCm39)	missense	probably damaging	1.00
IGL03372:Skint3	APN	4	112,113,103 (GRCm39)	splice site	probably benign
R0043:Skint3	UTSW	4	112,134,820 (GRCm39)	missense	probably damaging	0.98
R0671:Skint3	UTSW	4	112,112,974 (GRCm39)	nonsense	probably null
R0747:Skint3	UTSW	4	112,111,102 (GRCm39)	missense	probably damaging	1.00
R1191:Skint3	UTSW	4	112,092,939 (GRCm39)	start codon destroyed	probably null	0.95
R2058:Skint3	UTSW	4	112,112,980 (GRCm39)	nonsense	probably null
R3819:Skint3	UTSW	4	112,113,085 (GRCm39)	missense	possibly damaging	0.68
R3893:Skint3	UTSW	4	112,111,115 (GRCm39)	missense	probably damaging	0.97
R4166:Skint3	UTSW	4	112,112,832 (GRCm39)	missense	possibly damaging	0.89
R4449:Skint3	UTSW	4	112,127,206 (GRCm39)	missense	possibly damaging	0.74
R4662:Skint3	UTSW	4	112,134,863 (GRCm39)	nonsense	probably null
R4790:Skint3	UTSW	4	112,113,095 (GRCm39)	missense	possibly damaging	0.49
R5374:Skint3	UTSW	4	112,155,386 (GRCm39)	missense	possibly damaging	0.81
R5570:Skint3	UTSW	4	112,092,995 (GRCm39)	missense	probably benign	0.08
R6024:Skint3	UTSW	4	112,147,543 (GRCm39)	missense	possibly damaging	0.66
R6306:Skint3	UTSW	4	112,113,072 (GRCm39)	missense	probably damaging	1.00
R6552:Skint3	UTSW	4	112,147,482 (GRCm39)	missense	possibly damaging	0.95
R6619:Skint3	UTSW	4	112,111,061 (GRCm39)	missense	probably damaging	1.00
R6972:Skint3	UTSW	4	112,116,089 (GRCm39)	missense	probably damaging	0.98
R9029:Skint3	UTSW	4	112,111,151 (GRCm39)	missense	probably damaging	1.00
R9433:Skint3	UTSW	4	112,137,432 (GRCm39)	missense	probably benign	0.06
R9701:Skint3	UTSW	4	112,111,094 (GRCm39)	missense	probably damaging	1.00
R9802:Skint3	UTSW	4	112,111,094 (GRCm39)	missense	probably damaging	1.00
Z1176:Skint3	UTSW	4	112,111,099 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07