Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02186:Skint11'

283663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint11

Ensembl Gene

ENSMUSG00000057977

Gene Name

selection and upkeep of intraepithelial T cells 11

Synonyms

A630098G03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

114020581-114102225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114101833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 91 (Q91L)

Ref Sequence

ENSEMBL: ENSMUSP00000078836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079915] [ENSMUST00000164297]

AlphaFold

A7XV14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079915
AA Change: Q91L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977
AA Change: Q91L

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164297
AA Change: Q282L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: Q282L

Domain	Start	End	E-Value	Type
PDB:4F8T\|A	19	125	6e-9	PDB
Blast:IG_like	40	119	1e-10	BLAST
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,811 (GRCm39)	F100S	unknown	Het
Abca3	A	G	17: 24,596,714 (GRCm39)	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,031,773 (GRCm39)		probably null	Het
Adam21	G	A	12: 81,605,983 (GRCm39)	T593I	possibly damaging	Het
Adipor1	T	A	1: 134,353,698 (GRCm39)	M161K	probably benign	Het
Agrp	A	T	8: 106,293,821 (GRCm39)	N48K	probably benign	Het
Asprv1	A	T	6: 86,605,900 (GRCm39)	M249L	probably damaging	Het
Begain	A	G	12: 108,999,278 (GRCm39)	Y703H	probably damaging	Het
Bspry	T	A	4: 62,414,226 (GRCm39)		probably benign	Het
Cct8l1	T	G	5: 25,721,836 (GRCm39)	S184A	probably benign	Het
Cdk13	C	T	13: 17,947,112 (GRCm39)	V549I	probably benign	Het
Cdyl2	C	T	8: 117,306,025 (GRCm39)	R412Q	possibly damaging	Het
Celf6	T	C	9: 59,510,808 (GRCm39)	S205P	probably damaging	Het
Cltc	G	A	11: 86,595,811 (GRCm39)	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,595,812 (GRCm39)	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,939 (GRCm39)	F62L	probably damaging	Het
Dlec1	T	A	9: 118,972,695 (GRCm39)	C1473S	probably benign	Het
Dmbt1	T	A	7: 130,694,986 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,856,896 (GRCm39)	V176I	probably benign	Het
Dusp1	G	T	17: 26,726,032 (GRCm39)	Y220*	probably null	Het
Enpp3	A	C	10: 24,667,881 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,649,755 (GRCm39)	L395P	probably damaging	Het
Fn1	T	C	1: 71,677,693 (GRCm39)	K533R	probably damaging	Het
Gcm2	T	A	13: 41,258,125 (GRCm39)	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,252,491 (GRCm39)		probably benign	Het
Ifrd1	A	G	12: 40,264,092 (GRCm39)	V101A	probably benign	Het
Iqsec1	G	T	6: 90,653,859 (GRCm39)	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,576,881 (GRCm39)	M254L	probably benign	Het
Krit1	T	C	5: 3,859,733 (GRCm39)		probably benign	Het
Letm1	T	C	5: 33,902,391 (GRCm39)	K633E	probably benign	Het
Mfsd1	A	G	3: 67,503,928 (GRCm39)	I307V	probably benign	Het
Mtrr	T	C	13: 68,712,476 (GRCm39)	T637A	probably benign	Het
Naxe	C	A	3: 87,964,305 (GRCm39)	D212Y	probably damaging	Het
Nlk	A	T	11: 78,477,762 (GRCm39)	V327D	probably damaging	Het
Or2f1b	A	G	6: 42,739,880 (GRCm39)	K298R	probably null	Het
Or5w11	A	T	2: 87,459,715 (GRCm39)	I187F	probably benign	Het
Pdzd8	C	T	19: 59,289,060 (GRCm39)	G780D	probably damaging	Het
Prune1	T	C	3: 95,166,548 (GRCm39)		probably benign	Het
Qser1	A	T	2: 104,618,606 (GRCm39)	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,945,901 (GRCm39)	Y193H	probably benign	Het
Reln	A	G	5: 22,114,956 (GRCm39)	Y3119H	probably damaging	Het
Scel	C	T	14: 103,802,257 (GRCm39)	A219V	probably benign	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc5a5	C	A	8: 71,338,764 (GRCm39)	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,665,928 (GRCm39)		probably null	Het
Slc9a3	A	G	13: 74,311,233 (GRCm39)	E576G	possibly damaging	Het
Slco1b2	A	T	6: 141,580,271 (GRCm39)		probably benign	Het
Smc5	A	G	19: 23,209,223 (GRCm39)	V647A	probably damaging	Het
Snph	T	C	2: 151,436,263 (GRCm39)	N222D	possibly damaging	Het
Srbd1	A	G	17: 86,416,659 (GRCm39)	F500L	probably benign	Het
Stxbp6	T	C	12: 44,948,806 (GRCm39)	D101G	probably damaging	Het
Taar7b	A	G	10: 23,875,879 (GRCm39)	I15V	probably benign	Het
Tdrd12	G	T	7: 35,200,826 (GRCm39)	N338K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem219	A	T	7: 126,495,988 (GRCm39)	D128E	probably benign	Het
Togaram2	A	G	17: 71,992,166 (GRCm39)	T3A	possibly damaging	Het
Ttn	C	T	2: 76,724,627 (GRCm39)		probably benign	Het
Uchl1	C	A	5: 66,834,382 (GRCm39)	C47*	probably null	Het
Unc79	T	G	12: 102,977,542 (GRCm39)	S182A	probably benign	Het
Vmn2r1	A	G	3: 63,989,138 (GRCm39)	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vps54	T	C	11: 21,256,947 (GRCm39)	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250 (GRCm39)	V126G	possibly damaging	Het
Zmym2	A	G	14: 57,180,808 (GRCm39)	T907A	probably benign	Het

Other mutations in Skint11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Skint11	APN	4	114,051,906 (GRCm39)	missense	probably benign	0.03
IGL00775:Skint11	APN	4	114,051,889 (GRCm39)	missense	probably damaging	1.00
IGL02499:Skint11	APN	4	114,051,801 (GRCm39)	missense	probably benign	0.01
IGL02622:Skint11	APN	4	114,051,925 (GRCm39)	missense	probably damaging	1.00
IGL03115:Skint11	APN	4	114,101,820 (GRCm39)	missense	probably damaging	0.99
R0513:Skint11	UTSW	4	114,051,762 (GRCm39)	missense	probably benign	0.00
R0928:Skint11	UTSW	4	114,101,798 (GRCm39)	missense	possibly damaging	0.95
R1486:Skint11	UTSW	4	114,052,015 (GRCm39)	critical splice donor site	probably null
R1508:Skint11	UTSW	4	114,088,963 (GRCm39)	critical splice donor site	probably null
R1667:Skint11	UTSW	4	114,051,978 (GRCm39)	missense	probably damaging	0.99
R1807:Skint11	UTSW	4	114,051,893 (GRCm39)	missense	probably benign	0.08
R2504:Skint11	UTSW	4	114,086,009 (GRCm39)	missense	possibly damaging	0.55
R4165:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4166:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4231:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4233:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4234:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4236:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4756:Skint11	UTSW	4	114,051,874 (GRCm39)	missense	probably benign	0.30
R4947:Skint11	UTSW	4	114,048,707 (GRCm39)	missense	possibly damaging	0.89
R5237:Skint11	UTSW	4	114,102,042 (GRCm39)	missense	possibly damaging	0.66
R5538:Skint11	UTSW	4	114,088,959 (GRCm39)	missense	probably damaging	0.99
R5555:Skint11	UTSW	4	114,051,798 (GRCm39)	missense	probably benign	0.03
R6004:Skint11	UTSW	4	114,088,925 (GRCm39)	missense	probably benign	0.37
R6209:Skint11	UTSW	4	114,101,907 (GRCm39)	missense	possibly damaging	0.73
R7121:Skint11	UTSW	4	114,084,993 (GRCm39)	missense	probably benign	0.05
R7208:Skint11	UTSW	4	114,088,944 (GRCm39)	missense	probably damaging	1.00
R7348:Skint11	UTSW	4	114,101,919 (GRCm39)	missense	probably benign	0.15
R7763:Skint11	UTSW	4	114,084,905 (GRCm39)	missense	probably benign	0.00
R7842:Skint11	UTSW	4	114,101,968 (GRCm39)	missense	possibly damaging	0.83
R7846:Skint11	UTSW	4	114,102,076 (GRCm39)	missense	possibly damaging	0.92
R8054:Skint11	UTSW	4	114,101,806 (GRCm39)	missense	possibly damaging	0.55
R8710:Skint11	UTSW	4	114,051,951 (GRCm39)	missense	probably benign	0.10
R8742:Skint11	UTSW	4	114,051,922 (GRCm39)	missense	probably damaging	0.98
Z1176:Skint11	UTSW	4	114,088,878 (GRCm39)	missense	probably damaging	0.96
Z1176:Skint11	UTSW	4	114,051,969 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16