Mutagenetix > Incidental Mutation

Incidental Mutation 'R3764:Pate8'

271815

Institutional Source

Beutler Lab

Gene Symbol

Pate8

Ensembl Gene

ENSMUSG00000091248

Gene Name

prostate and testis expressed 8

Synonyms

Gm17689

MMRRC Submission

040741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36492574-36493931 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 36493114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170030]

AlphaFold

B3GLJ4

Predicted Effect

probably null
Transcript: ENSMUST00000170030

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.3%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	G	A	17: 14,066,851 (GRCm39)	A648T	probably benign	Het
Cadm3	C	T	1: 173,174,064 (GRCm39)	V50I	probably damaging	Het
Catspere2	A	T	1: 177,940,698 (GRCm39)	T687S	unknown	Het
Cubn	T	A	2: 13,336,396 (GRCm39)	I2477F	possibly damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dhx15	G	A	5: 52,324,074 (GRCm39)	P406L	probably benign	Het
Eif4e3	C	T	6: 99,617,586 (GRCm39)	R95Q	probably damaging	Het
Fmo5	T	C	3: 97,553,033 (GRCm39)	I327T	probably damaging	Het
Gckr	T	A	5: 31,483,842 (GRCm39)		probably benign	Het
Ghrhr	T	C	6: 55,357,756 (GRCm39)	V129A	probably damaging	Het
Gsdma	A	T	11: 98,561,593 (GRCm39)	N191I	probably damaging	Het
Hadha	T	C	5: 30,349,207 (GRCm39)	K135E	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,326,680 (GRCm39)	E1797G	probably damaging	Het
Ly9	T	C	1: 171,421,712 (GRCm39)	Y513C	possibly damaging	Het
Nphp4	C	T	4: 152,622,474 (GRCm39)		probably benign	Het
Pcm1	A	G	8: 41,783,919 (GRCm39)	E2005G	probably damaging	Het
Spsb2	T	C	6: 124,786,518 (GRCm39)	Y84H	probably damaging	Het
Tlcd3b	T	C	7: 126,426,685 (GRCm39)	I36T	probably damaging	Het
Try10	C	T	6: 41,333,458 (GRCm39)	R68C	probably benign	Het
Tut7	T	A	13: 59,948,194 (GRCm39)	E307V	probably damaging	Het
Ube3c	ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 29,842,584 (GRCm39)		probably benign	Het
Vps50	A	T	6: 3,588,063 (GRCm39)	I679F	probably damaging	Het
Wdr81	G	A	11: 75,343,629 (GRCm39)	T546I	probably damaging	Het
Zfp40	T	A	17: 23,396,101 (GRCm39)	H94L	possibly damaging	Het

Other mutations in Pate8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Pate8	APN	9	36,492,659 (GRCm39)	missense	probably benign	0.00
IGL01693:Pate8	APN	9	36,492,662 (GRCm39)	missense	probably benign	0.31
IGL02268:Pate8	APN	9	36,493,166 (GRCm39)	missense	possibly damaging	0.71
IGL03191:Pate8	APN	9	36,492,698 (GRCm39)	missense	probably benign	0.00
PIT4354001:Pate8	UTSW	9	36,492,597 (GRCm39)	missense	possibly damaging	0.71
R0401:Pate8	UTSW	9	36,493,924 (GRCm39)	missense	unknown
R0743:Pate8	UTSW	9	36,492,597 (GRCm39)	missense	probably benign	0.03
R1483:Pate8	UTSW	9	36,492,620 (GRCm39)	missense	probably benign	0.00
R1701:Pate8	UTSW	9	36,493,114 (GRCm39)	critical splice donor site	probably benign
R2258:Pate8	UTSW	9	36,493,161 (GRCm39)	missense	probably benign	0.03
R5143:Pate8	UTSW	9	36,493,200 (GRCm39)	missense	probably benign	0.31
R6783:Pate8	UTSW	9	36,492,631 (GRCm39)	splice site	probably null
R7013:Pate8	UTSW	9	36,493,854 (GRCm39)	missense	unknown
R7014:Pate8	UTSW	9	36,493,854 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTCTTAGATAGCCATGAATACCAC -3'
(R):5'- ATGCTTGAAGCCGACCTTGAG -3'

Sequencing Primer
(F):5'- GCCATGAATACCACTAAAAGAACCTG -3'
(R):5'- GCTTGAAGCCGACCTTGAGTAAAC -3'

Posted On

2015-03-25