Mutagenetix > Incidental Mutation

Incidental Mutation 'R5720:Skint8'

451401

Institutional Source

Beutler Lab

Gene Symbol

Skint8

Ensembl Gene

ENSMUSG00000078599

Gene Name

selection and upkeep of intraepithelial T cells 8

Synonyms

OTTMUSG00000009475

MMRRC Submission

043188-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111776643-111807558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111807390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 359 (L359M)

Ref Sequence

ENSEMBL: ENSMUSP00000133268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165046]

AlphaFold

A7XV07

Predicted Effect

probably damaging
Transcript: ENSMUST00000165046
AA Change: L359M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: L359M

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	3.13e-5	SMART
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	285	307	N/A	INTRINSIC
transmembrane domain	327	352	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,228,802 (GRCm39)	T1125A	possibly damaging	Het
Cplane1	T	A	15: 8,233,171 (GRCm39)	N1165K	probably benign	Het
Ctf1	A	T	7: 127,316,174 (GRCm39)		probably null	Het
Defb26	T	C	2: 152,350,122 (GRCm39)	N53D	possibly damaging	Het
Dhtkd1	T	C	2: 5,907,825 (GRCm39)	T787A	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxl7	A	G	15: 26,552,979 (GRCm39)	L96P	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr65	A	T	12: 98,241,361 (GRCm39)	S5C	probably damaging	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Itga8	G	A	2: 12,115,898 (GRCm39)	S76L	probably damaging	Het
Mpdz	A	T	4: 81,205,931 (GRCm39)	F1810Y	probably damaging	Het
Nfrkb	T	C	9: 31,306,038 (GRCm39)	L126P	probably damaging	Het
Or4a77	T	C	2: 89,487,299 (GRCm39)	Y162C	probably benign	Het
Primpol	A	G	8: 47,034,677 (GRCm39)	V417A	probably damaging	Het
Pus1	C	T	5: 110,925,584 (GRCm39)	E79K	probably damaging	Het
Rspo2	C	T	15: 43,033,210 (GRCm39)	C4Y	probably benign	Het
Serpina12	T	C	12: 104,004,563 (GRCm39)	D23G	probably benign	Het
Serpind1	A	T	16: 17,157,696 (GRCm39)	R297S	probably benign	Het
Slc17a6	C	T	7: 51,275,145 (GRCm39)	P68L	probably damaging	Het
Slc6a5	C	T	7: 49,606,264 (GRCm39)	P724L	possibly damaging	Het
Spaca7	A	G	8: 12,649,004 (GRCm39)	E166G	possibly damaging	Het
Supt5	A	G	7: 28,021,993 (GRCm39)	S345P	probably damaging	Het
Syne2	G	A	12: 76,014,441 (GRCm39)	D3211N	probably benign	Het
Tmem132e	G	A	11: 82,333,276 (GRCm39)		probably null	Het
Trappc14	A	G	5: 138,261,964 (GRCm39)	V44A	probably benign	Het
Zfp384	T	C	6: 125,013,587 (GRCm39)	S536P	probably benign	Het

Other mutations in Skint8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Skint8	APN	4	111,796,120 (GRCm39)	missense	probably benign	0.05
IGL01411:Skint8	APN	4	111,794,103 (GRCm39)	missense	probably damaging	0.97
IGL02973:Skint8	APN	4	111,796,790 (GRCm39)	missense	probably benign	0.09
IGL03154:Skint8	APN	4	111,796,707 (GRCm39)	splice site	probably null
FR4976:Skint8	UTSW	4	111,796,099 (GRCm39)	missense	probably benign	0.02
R0309:Skint8	UTSW	4	111,796,064 (GRCm39)	missense	probably benign	0.02
R0448:Skint8	UTSW	4	111,794,087 (GRCm39)	missense	probably damaging	1.00
R0483:Skint8	UTSW	4	111,796,020 (GRCm39)	splice site	probably benign
R0586:Skint8	UTSW	4	111,794,126 (GRCm39)	missense	probably damaging	1.00
R1076:Skint8	UTSW	4	111,784,416 (GRCm39)	missense	probably damaging	1.00
R1169:Skint8	UTSW	4	111,785,710 (GRCm39)	missense	possibly damaging	0.86
R1588:Skint8	UTSW	4	111,785,924 (GRCm39)	nonsense	probably null
R1707:Skint8	UTSW	4	111,796,769 (GRCm39)	missense	probably damaging	1.00
R1865:Skint8	UTSW	4	111,794,192 (GRCm39)	missense	probably damaging	1.00
R1954:Skint8	UTSW	4	111,807,278 (GRCm39)	missense	possibly damaging	0.54
R2147:Skint8	UTSW	4	111,794,274 (GRCm39)	missense	probably damaging	1.00
R2896:Skint8	UTSW	4	111,807,333 (GRCm39)	missense	probably null
R4945:Skint8	UTSW	4	111,796,805 (GRCm39)	missense	probably damaging	0.96
R5019:Skint8	UTSW	4	111,785,845 (GRCm39)	missense	probably damaging	0.99
R5281:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5284:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5289:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5309:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5310:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5588:Skint8	UTSW	4	111,794,089 (GRCm39)	missense	probably benign	0.01
R5636:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5637:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5638:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5639:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5719:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5754:Skint8	UTSW	4	111,807,387 (GRCm39)	missense	probably benign
R5850:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R5855:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R6036:Skint8	UTSW	4	111,807,390 (GRCm39)	missense	probably damaging	0.98
R6525:Skint8	UTSW	4	111,785,935 (GRCm39)	missense	probably damaging	0.98
R6554:Skint8	UTSW	4	111,784,413 (GRCm39)	missense	probably benign	0.35
R6578:Skint8	UTSW	4	111,794,159 (GRCm39)	missense	probably benign	0.03
R6841:Skint8	UTSW	4	111,785,968 (GRCm39)	missense	probably damaging	1.00
R7000:Skint8	UTSW	4	111,794,222 (GRCm39)	missense	probably benign	0.16
R7317:Skint8	UTSW	4	111,796,717 (GRCm39)	missense	possibly damaging	0.94
R7336:Skint8	UTSW	4	111,796,769 (GRCm39)	missense	probably benign	0.32
R7412:Skint8	UTSW	4	111,785,758 (GRCm39)	missense	probably benign	0.07
R7480:Skint8	UTSW	4	111,785,784 (GRCm39)	nonsense	probably null
R8027:Skint8	UTSW	4	111,785,936 (GRCm39)	missense	probably benign	0.36
R8204:Skint8	UTSW	4	111,796,090 (GRCm39)	missense	probably benign	0.03
R8963:Skint8	UTSW	4	111,794,241 (GRCm39)	missense	probably benign	0.03
R9084:Skint8	UTSW	4	111,794,210 (GRCm39)	missense	probably benign	0.11
R9249:Skint8	UTSW	4	111,794,159 (GRCm39)	missense	probably damaging	0.98
R9283:Skint8	UTSW	4	111,785,644 (GRCm39)	missense	probably damaging	0.99
Z1177:Skint8	UTSW	4	111,794,251 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- ACATTTGGTAGCATGCAAAGG -3'
(R):5'- GGCAAATGAAGTCCATACCTCAG -3'

Sequencing Primer
(F):5'- GTTGAACCTATAGTACACAATCTCAC -3'
(R):5'- AATCTTCTTCAAAGACATGGCCTC -3'

Posted On

2017-01-03