Mutagenetix > Incidental Mutation

Incidental Mutation 'R4166:Skint11'

320569

Institutional Source

Beutler Lab

Gene Symbol

Skint11

Ensembl Gene

ENSMUSG00000057977

Gene Name

selection and upkeep of intraepithelial T cells 11

Synonyms

A630098G03Rik

MMRRC Submission

041639-MU

Accession Numbers

Essential gene?

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

Stock #

R4166 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114020581-114102225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114101856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 99 (Q99K)

Ref Sequence

ENSEMBL: ENSMUSP00000078836 (fasta)

Gene Model

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

AlphaFold

A7XV14

Predicted Effect

probably benign
Transcript: ENSMUST00000079915
AA Change: Q99K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977
AA Change: Q99K

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: Q290K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: Q290K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,912 (GRCm39)	T1018A	possibly damaging	Het
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Ankrd35	T	A	3: 96,586,471 (GRCm39)		probably null	Het
Arhgap20	G	A	9: 51,738,135 (GRCm39)		probably null	Het
Bhmt	T	A	13: 93,762,007 (GRCm39)		probably benign	Het
Cacna1b	C	A	2: 24,567,923 (GRCm39)	R1055L	probably benign	Het
Cdk5r1	A	G	11: 80,369,035 (GRCm39)	Y234C	probably damaging	Het
Cdx2	G	T	5: 147,243,539 (GRCm39)	A85D	possibly damaging	Het
Cenpe	G	A	3: 134,949,479 (GRCm39)	G88D	probably damaging	Het
Cfap300	A	T	9: 8,026,071 (GRCm39)	L167Q	probably damaging	Het
Dennd5a	A	C	7: 109,526,032 (GRCm39)		probably null	Het
Erich6	G	A	3: 58,526,229 (GRCm39)	A591V	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fbln5	A	G	12: 101,723,618 (GRCm39)	V374A	probably damaging	Het
Fmn1	G	A	2: 113,467,080 (GRCm39)	S1327N	probably benign	Het
Fnip2	A	T	3: 79,369,442 (GRCm39)	V1081E	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gulp1	T	A	1: 44,747,829 (GRCm39)	Y27*	probably null	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Msi2	T	C	11: 88,237,914 (GRCm39)	H346R	probably benign	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Npr3	T	G	15: 11,848,599 (GRCm39)	E202A	probably benign	Het
Nsun4	A	T	4: 115,891,248 (GRCm39)	L377Q	probably damaging	Het
Oog2	A	C	4: 143,921,411 (GRCm39)	H107P	probably damaging	Het
Or14c40	C	A	7: 86,313,602 (GRCm39)	T244N	probably damaging	Het
Otof	A	G	5: 30,539,762 (GRCm39)	L1032P	probably damaging	Het
Pcdh9	T	A	14: 94,124,956 (GRCm39)	R405*	probably null	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prol1	A	T	5: 88,476,530 (GRCm39)	I307F	unknown	Het
Pycr1	T	C	11: 120,532,949 (GRCm39)	I104V	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rb1cc1	T	C	1: 6,335,887 (GRCm39)		probably benign	Het
Skint3	A	G	4: 112,112,832 (GRCm39)	I147M	possibly damaging	Het
Slc22a14	T	G	9: 119,007,498 (GRCm39)	M304L	probably benign	Het
Slc22a14	T	C	9: 119,008,934 (GRCm39)	N178S	possibly damaging	Het
Slc2a1	T	G	4: 118,990,313 (GRCm39)	I179S	probably damaging	Het
Slco2b1	G	T	7: 99,309,333 (GRCm39)	T666N	probably benign	Het
Smap1	T	C	1: 23,887,506 (GRCm39)	M258V	probably benign	Het
Smr3a	A	T	5: 88,156,013 (GRCm39)		probably benign	Het
Stt3b	T	A	9: 115,083,969 (GRCm39)	E402D	probably damaging	Het
Sync	T	C	4: 129,200,535 (GRCm39)		probably benign	Het
Tbx20	T	A	9: 24,681,040 (GRCm39)	I151F	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Trank1	C	A	9: 111,202,592 (GRCm39)	Y1652*	probably null	Het
Trim34a	T	A	7: 103,910,223 (GRCm39)	C342S	probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Zfp146	A	G	7: 29,861,865 (GRCm39)	V59A	possibly damaging	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
IGL02186:Skint11	APN	4	114,101,833 (GRCm39)	missense	possibly damaging	0.82
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGAACAACAAGTTGCAGTG -3'
(R):5'- TGTCAAGTTTCCAAGTTTCGAG -3'

Sequencing Primer
(F):5'- CAACAAGTTGCAGTGAGAGTGTGTG -3'
(R):5'- AGTTTCCAAGTTTCGAGTACAATTC -3'

Posted On

2015-06-12