Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Skint8'

55748

Institutional Source

Beutler Lab

Gene Symbol

Skint8

Ensembl Gene

ENSMUSG00000078599

Gene Name

selection and upkeep of intraepithelial T cells 8

Synonyms

OTTMUSG00000009475

MMRRC Submission

038776-MU

Accession Numbers

Essential gene?

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

Stock #

R0586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111776643-111807558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 111794126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 172 (P172R)

Ref Sequence

ENSEMBL: ENSMUSP00000102182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106572] [ENSMUST00000165046]

AlphaFold

A7XV07

Predicted Effect

probably damaging
Transcript: ENSMUST00000106572
AA Change: P172R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102182
Gene: ENSMUSG00000078599
AA Change: P172R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	3.13e-5	SMART
Blast:IG_like	148	231	9e-16	BLAST
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	285	307	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124862

Predicted Effect

probably damaging
Transcript: ENSMUST00000165046
AA Change: P172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133268
Gene: ENSMUSG00000078599
AA Change: P172R

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: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Opn4	A	G	14: 34,320,930 (GRCm39)		probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Pogz	C	T	3: 94,786,664 (GRCm39)	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,411,719 (GRCm39)	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Slc12a8	T	G	16: 33,478,600 (GRCm39)	M643R	possibly damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,640,321 (GRCm39)	L272P	probably damaging	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpm2	T	A	10: 77,759,350 (GRCm39)	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	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
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
R5720: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'- AGTGGATAGACATCAACTGCCAAATGG -3'
(R):5'- GTTGGAAATACAGCAAATGATGCTGCC -3'

Sequencing Primer
(F):5'- ATCAACTGCCAAATGGTTACTC -3'
(R):5'- AAATGATGCTGCCGTGTGAC -3'

Posted On

2013-07-11