Mutagenetix > Incidental Mutation

Incidental Mutation 'R0928:Skint11'

80628

Institutional Source

Beutler Lab

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 #

R0928 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114020581-114102225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114101798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 79 (D79E)

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: D79E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977
AA Change: D79E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164297
AA Change: D270E

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: D270E

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

1x: 99.2%
3x: 98.1%
10x: 93.0%
20x: 75.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,388,333 (GRCm39)	D179V	probably benign	Het
Abcc1	T	C	16: 14,207,849 (GRCm39)		probably null	Het
Adad1	G	A	3: 37,130,889 (GRCm39)		probably null	Het
Apobec4	T	C	1: 152,632,028 (GRCm39)	Y19H	probably damaging	Het
Bco2	T	A	9: 50,457,231 (GRCm39)	T104S	probably damaging	Het
Bnc1	A	G	7: 81,623,250 (GRCm39)	V659A	probably benign	Het
Ccdc168	C	A	1: 44,096,388 (GRCm39)	S1570I	possibly damaging	Het
Ccs	T	C	19: 4,875,988 (GRCm39)	E184G	probably damaging	Het
Cfap70	T	G	14: 20,493,987 (GRCm39)	K97N	probably damaging	Het
Cracdl	T	C	1: 37,663,663 (GRCm39)	D745G	possibly damaging	Het
Daam2	T	C	17: 49,795,255 (GRCm39)	I313V	probably benign	Het
Dach1	T	C	14: 98,153,268 (GRCm39)	S467G	probably damaging	Het
Dnah11	A	G	12: 118,009,297 (GRCm39)	S2122P	probably damaging	Het
Dnah3	T	A	7: 119,629,274 (GRCm39)	D1427V	probably damaging	Het
Dnai1	T	C	4: 41,602,566 (GRCm39)	F97L	possibly damaging	Het
Dsc1	A	T	18: 20,243,306 (GRCm39)		probably null	Het
En2	A	T	5: 28,375,329 (GRCm39)	K291*	probably null	Het
Eps15	T	C	4: 109,170,160 (GRCm39)	V154A	possibly damaging	Het
Etnk1	A	G	6: 143,130,429 (GRCm39)	I183V	probably benign	Het
Fcrlb	A	T	1: 170,735,509 (GRCm39)	V255D	possibly damaging	Het
Fry	A	T	5: 150,360,549 (GRCm39)	E52V	probably damaging	Het
Garre1	A	T	7: 33,947,671 (GRCm39)		probably null	Het
Gm57858	A	C	3: 36,079,515 (GRCm39)	N258K	possibly damaging	Het
Gtf2h4	T	C	17: 35,981,777 (GRCm39)	Y152C	probably damaging	Het
Hao1	C	A	2: 134,347,536 (GRCm39)	L256F	possibly damaging	Het
Helz	T	A	11: 107,517,519 (GRCm39)	I685K	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Izumo2	A	T	7: 44,364,847 (GRCm39)	I171F	possibly damaging	Het
Krt87	C	A	15: 101,389,161 (GRCm39)	C57F	probably benign	Het
Mapkbp1	A	G	2: 119,845,849 (GRCm39)	H400R	probably benign	Het
Megf6	T	A	4: 154,261,504 (GRCm39)	V43E	probably damaging	Het
Mmut	T	C	17: 41,248,174 (GRCm39)	I67T	probably benign	Het
Ninl	A	T	2: 150,805,395 (GRCm39)	V396E	probably damaging	Het
Nvl	A	T	1: 180,921,467 (GRCm39)	V844E	probably benign	Het
Or2b6	C	T	13: 21,823,126 (GRCm39)	C189Y	probably damaging	Het
P2rx3	A	T	2: 84,865,642 (GRCm39)	M1K	probably null	Het
Pabpn1l	T	C	8: 123,349,358 (GRCm39)	T20A	probably benign	Het
Ppp3r2	C	A	4: 49,681,439 (GRCm39)		probably null	Het
Prmt6	C	T	3: 110,157,998 (GRCm39)	G97D	probably damaging	Het
Prmt9	T	C	8: 78,307,805 (GRCm39)	V823A	probably damaging	Het
Skic3	T	G	13: 76,261,711 (GRCm39)	L142W	probably damaging	Het
Slc17a8	T	A	10: 89,434,545 (GRCm39)	H194L	probably damaging	Het
Slco6c1	T	A	1: 97,032,573 (GRCm39)	I293F	possibly damaging	Het
Tcl1b4	A	T	12: 105,168,865 (GRCm39)	H43L	probably benign	Het
Tm9sf1	T	C	14: 55,873,914 (GRCm39)	D528G	probably damaging	Het
Tpbpb	C	T	13: 61,049,989 (GRCm39)	V47I	probably benign	Het
Ttn	G	T	2: 76,737,876 (GRCm39)		probably benign	Het
Usp28	T	G	9: 48,942,191 (GRCm39)	S341A	possibly damaging	Het
Vwa5a	T	C	9: 38,639,303 (GRCm39)	Y345H	probably damaging	Het
Wdr11	C	A	7: 129,208,377 (GRCm39)	D377E	probably damaging	Het
Zer1	A	G	2: 29,991,775 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCACTGTGGTTCTTGAGTACCTCATTG -3'
(R):5'- TGCAACATGTAACTGGAAGGAGCTTG -3'

Sequencing Primer
(F):5'- GAGTACCTCATTGTAGATAAGGACC -3'
(R):5'- ATGTGTCAAGTTTCCAAGTTTCG -3'

Posted On

2013-11-07