Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03111:Skint9'

419197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint9

Ensembl Gene

ENSMUSG00000049972

Gene Name

selection and upkeep of intraepithelial T cells 9

Synonyms

A030013N09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

IGL03111

Quality Score

Status

Chromosome

Chromosomal Location

112243166-112291182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112248921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 169 (N169I)

Ref Sequence

ENSEMBL: ENSMUSP00000052670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058605]

AlphaFold

A7TZG3

Predicted Effect

probably benign
Transcript: ENSMUST00000058605
AA Change: N169I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000052670
Gene: ENSMUSG00000049972
AA Change: N169I

Domain	Start	End	E-Value	Type
PDB:4F8T\|A	26	125	1e-9	PDB
Blast:IG_like	32	119	8e-12	BLAST
SCOP:d1eula_	154	245	5e-3	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
Aftph	T	C	11: 20,676,040 (GRCm39)	D523G	probably benign	Het
Alkbh1	A	C	12: 87,480,907 (GRCm39)	H176Q	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arid4a	G	A	12: 71,086,740 (GRCm39)	A193T	probably damaging	Het
Cdkal1	A	G	13: 29,538,684 (GRCm39)	S492P	possibly damaging	Het
Cep170b	C	T	12: 112,701,613 (GRCm39)	T164I	probably damaging	Het
Chst1	T	C	2: 92,443,692 (GRCm39)	Y55H	possibly damaging	Het
Clybl	C	T	14: 122,639,395 (GRCm39)	P320S	probably damaging	Het
Cpne9	T	C	6: 113,277,571 (GRCm39)	I430T	possibly damaging	Het
Cyc1	T	G	15: 76,229,072 (GRCm39)	S113A	probably benign	Het
Cyp4b1	C	T	4: 115,493,066 (GRCm39)		probably benign	Het
Dpysl3	T	C	18: 43,462,910 (GRCm39)	D489G	probably damaging	Het
Epha3	T	C	16: 63,473,809 (GRCm39)	D15G	probably damaging	Het
Ephb4	C	A	5: 137,370,767 (GRCm39)	F933L	probably benign	Het
Fan1	A	T	7: 63,999,816 (GRCm39)	D856E	possibly damaging	Het
Gabra6	T	A	11: 42,207,844 (GRCm39)	D208V	probably damaging	Het
Kif3b	T	A	2: 153,171,988 (GRCm39)	S719R	probably benign	Het
Ldhd	A	C	8: 112,353,797 (GRCm39)	C439G	probably damaging	Het
Lipo3	C	T	19: 33,559,637 (GRCm39)	V78I	probably damaging	Het
Mterf2	A	T	10: 84,955,786 (GRCm39)	Y279*	probably null	Het
Myo9a	G	T	9: 59,734,526 (GRCm39)	A703S	probably benign	Het
Ndst3	T	A	3: 123,465,745 (GRCm39)	T76S	possibly damaging	Het
Nlrp4f	A	T	13: 65,330,816 (GRCm39)	L859Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,978 (GRCm38)		noncoding transcript	Het
Or1s2	T	A	19: 13,758,343 (GRCm39)	Y122*	probably null	Het
Or51g2	G	A	7: 102,622,738 (GRCm39)	R154C	probably damaging	Het
Or6c215	G	A	10: 129,637,947 (GRCm39)	T149I	probably benign	Het
Osgin1	A	T	8: 120,169,788 (GRCm39)	K113M	probably damaging	Het
Plcb4	T	A	2: 135,818,202 (GRCm39)	Y823N	probably damaging	Het
Prg4	T	C	1: 150,327,653 (GRCm39)	I856V	probably benign	Het
Pxdn	T	A	12: 30,032,755 (GRCm39)	S180T	probably damaging	Het
Slc24a1	T	C	9: 64,833,608 (GRCm39)	T996A	probably damaging	Het
Tbc1d20	T	C	2: 152,149,998 (GRCm39)	Y91H	probably damaging	Het
Tbc1d9b	A	G	11: 50,049,369 (GRCm39)	Y772C	probably damaging	Het
Thbd	T	A	2: 148,248,392 (GRCm39)	E492V	probably benign	Het
Thra	A	G	11: 98,651,855 (GRCm39)		probably benign	Het
Tmem131	A	G	1: 36,867,225 (GRCm39)	S403P	probably damaging	Het
Zfp455	T	C	13: 67,356,063 (GRCm39)	S444P	probably benign	Het
Zfp946	A	G	17: 22,673,537 (GRCm39)	H97R	possibly damaging	Het

Other mutations in Skint9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02399:Skint9	APN	4	112,246,447 (GRCm39)	missense	possibly damaging	0.88
IGL02417:Skint9	APN	4	112,271,335 (GRCm39)	splice site	probably benign
land_lubber	UTSW	4	112,248,174 (GRCm39)	nonsense	probably null
R0390:Skint9	UTSW	4	112,246,376 (GRCm39)	missense	probably benign	0.21
R0400:Skint9	UTSW	4	112,271,198 (GRCm39)	missense	probably damaging	1.00
R1606:Skint9	UTSW	4	112,246,398 (GRCm39)	missense	probably benign	0.02
R1757:Skint9	UTSW	4	112,271,159 (GRCm39)	missense	probably benign	0.03
R2431:Skint9	UTSW	4	112,246,464 (GRCm39)	missense	probably damaging	1.00
R3195:Skint9	UTSW	4	112,248,148 (GRCm39)	missense	probably benign	0.37
R3196:Skint9	UTSW	4	112,248,148 (GRCm39)	missense	probably benign	0.37
R4329:Skint9	UTSW	4	112,249,062 (GRCm39)	missense	probably damaging	0.98
R4855:Skint9	UTSW	4	112,248,208 (GRCm39)	missense	probably benign
R4986:Skint9	UTSW	4	112,248,910 (GRCm39)	missense	probably benign	0.00
R5093:Skint9	UTSW	4	112,246,447 (GRCm39)	missense	probably benign	0.01
R5844:Skint9	UTSW	4	112,271,080 (GRCm39)	missense	probably benign	0.01
R5897:Skint9	UTSW	4	112,271,113 (GRCm39)	missense	possibly damaging	0.95
R7123:Skint9	UTSW	4	112,248,174 (GRCm39)	nonsense	probably null
R7406:Skint9	UTSW	4	112,246,428 (GRCm39)	missense	probably benign	0.00
R7591:Skint9	UTSW	4	112,248,147 (GRCm39)	missense	probably damaging	0.99
R9364:Skint9	UTSW	4	112,248,915 (GRCm39)	missense	probably benign	0.09
R9481:Skint9	UTSW	4	112,248,915 (GRCm39)	missense	probably benign	0.09
R9548:Skint9	UTSW	4	112,276,346 (GRCm39)	missense	probably benign	0.02
R9554:Skint9	UTSW	4	112,248,915 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02