Mutagenetix > Incidental Mutation

Incidental Mutation 'R7591:Skint9'

587397

Institutional Source

Beutler Lab

Gene Symbol

Skint9

Ensembl Gene

ENSMUSG00000049972

Gene Name

selection and upkeep of intraepithelial T cells 9

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R7591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112385969-112433985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112390950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 199 (I199N)

Ref Sequence

ENSEMBL: ENSMUSP00000052670 (fasta)

Gene Model

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

AlphaFold

A7TZG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000058605
AA Change: I199N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052670
Gene: ENSMUSG00000049972
AA Change: I199N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	C	A	10: 82,292,212	V1655F	probably benign	Het
Ccne2	T	C	4: 11,201,393	I307T	probably benign	Het
Chrm3	A	T	13: 9,877,313	C562*	probably null	Het
Cldn11	A	T	3: 31,150,287	E46D	probably benign	Het
Cyp4a14	A	G	4: 115,489,960		probably null	Het
Dbh	A	G	2: 27,170,510	T233A	probably damaging	Het
Dennd2c	T	A	3: 103,133,345	Y309N	possibly damaging	Het
Dnttip2	T	A	3: 122,276,468	L444*	probably null	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epop	A	T	11: 97,628,332	V317E	probably damaging	Het
Eppk1	T	C	15: 76,107,597	T1695A	possibly damaging	Het
Fam149a	T	A	8: 45,350,435	I421F	possibly damaging	Het
Gm13103	A	T	4: 143,850,911	I88L	probably benign	Het
Impa2	T	C	18: 67,318,410	L258P	probably damaging	Het
Itga1	G	A	13: 114,982,779	R855W	probably damaging	Het
Kcnh5	T	C	12: 75,007,767	T468A	probably benign	Het
Kif11	A	G	19: 37,384,263	K33R	probably damaging	Het
Lamb1	C	A	12: 31,326,648	A1657E	probably damaging	Het
Macc1	T	C	12: 119,446,658	V387A	probably damaging	Het
Nalcn	T	C	14: 123,323,885	T734A	probably benign	Het
Nphp3	T	C	9: 104,018,278		probably null	Het
Nutm2	A	G	13: 50,473,867	I461M	probably damaging	Het
Olfr1178	G	A	2: 88,391,876	V210M	probably benign	Het
Olfr1191-ps1	A	C	2: 88,643,467	K233N	probably damaging	Het
Olfr1466	A	G	19: 13,342,255	S166G	probably benign	Het
Olfr465-ps1	T	C	13: 65,144,648	F130L	probably benign	Het
Pigo	T	C	4: 43,025,093	N2S	probably benign	Het
Plcl1	A	T	1: 55,697,449	I650L	probably benign	Het
Ppcdc	A	T	9: 57,434,979	V20D	probably damaging	Het
Rhobtb2	A	G	14: 69,799,741	V78A	possibly damaging	Het
Rp1l1	T	C	14: 64,026,109	V226A	probably damaging	Het
Scrt1	C	A	15: 76,519,494	G99C	probably damaging	Het
Slc5a4a	T	C	10: 76,147,667		probably benign	Het
Smad3	C	T	9: 63,654,717	W326*	probably null	Het
Spata18	A	T	5: 73,672,416	I305F		Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Syne3	A	G	12: 104,940,604		probably null	Het
Trim69	G	A	2: 122,167,973	R142Q	probably benign	Het
Vmn1r40	A	T	6: 89,714,773	I191F	probably benign	Het
Vmn2r16	T	A	5: 109,362,357	D535E	probably damaging	Het
Vwa5b2	A	G	16: 20,601,567	E742G	probably damaging	Het
Zfp442	A	T	2: 150,408,172	Y603*	probably null	Het
Zp1	T	C	19: 10,919,471	N68S	probably damaging	Het

Other mutations in Skint9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02399:Skint9	APN	4	112389250	missense	possibly damaging	0.88
IGL02417:Skint9	APN	4	112414138	splice site	probably benign
IGL03111:Skint9	APN	4	112391724	missense	probably benign	0.01
land_lubber	UTSW	4	112390977	nonsense	probably null
R0390:Skint9	UTSW	4	112389179	missense	probably benign	0.21
R0400:Skint9	UTSW	4	112414001	missense	probably damaging	1.00
R1606:Skint9	UTSW	4	112389201	missense	probably benign	0.02
R1757:Skint9	UTSW	4	112413962	missense	probably benign	0.03
R2431:Skint9	UTSW	4	112389267	missense	probably damaging	1.00
R3195:Skint9	UTSW	4	112390951	missense	probably benign	0.37
R3196:Skint9	UTSW	4	112390951	missense	probably benign	0.37
R4329:Skint9	UTSW	4	112391865	missense	probably damaging	0.98
R4855:Skint9	UTSW	4	112391011	missense	probably benign
R4986:Skint9	UTSW	4	112391713	missense	probably benign	0.00
R5093:Skint9	UTSW	4	112389250	missense	probably benign	0.01
R5844:Skint9	UTSW	4	112413883	missense	probably benign	0.01
R5897:Skint9	UTSW	4	112413916	missense	possibly damaging	0.95
R7123:Skint9	UTSW	4	112390977	nonsense	probably null
R7406:Skint9	UTSW	4	112389231	missense	probably benign	0.00
R9364:Skint9	UTSW	4	112391718	missense	probably benign	0.09
R9481:Skint9	UTSW	4	112391718	missense	probably benign	0.09
R9548:Skint9	UTSW	4	112419149	missense	probably benign	0.02
R9554:Skint9	UTSW	4	112391718	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AAGGACAGCACTTGAATCCACTAG -3'
(R):5'- GTTGTATCTTACTAACGCTAACCC -3'

Sequencing Primer
(F):5'- CCACTAGGATGTTACTGAAACCATG -3'
(R):5'- AAACAAATGGATATAGCATCAAGACC -3'

Posted On

2019-10-24