Mutagenetix > Incidental Mutation

Incidental Mutation 'R6783:Pate8'

531517

Institutional Source

Beutler Lab

Gene Symbol

Pate8

Ensembl Gene

ENSMUSG00000091248

Gene Name

prostate and testis expressed 8

Synonyms

Gm17689

MMRRC Submission

044897-MU

Accession Numbers

Essential gene?

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

Stock #

R6783 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36492574-36493931 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 36492631 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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.8%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,576,126 (GRCm39)	Q228L	probably damaging	Het
Arhgap45	A	G	10: 79,853,698 (GRCm39)	T71A	possibly damaging	Het
Bag6	T	A	17: 35,363,211 (GRCm39)	S684T	possibly damaging	Het
Bcam	C	T	7: 19,500,806 (GRCm39)	G123R	probably damaging	Het
Cdcp3	T	C	7: 130,828,493 (GRCm39)	L316P	probably damaging	Het
Cdr2l	C	T	11: 115,284,495 (GRCm39)	A277V	possibly damaging	Het
Clcn4	T	A	7: 7,302,181 (GRCm39)		probably benign	Het
Csnk1g1	T	A	9: 65,880,794 (GRCm39)	I72N	probably damaging	Het
Cspg4b	A	T	13: 113,456,743 (GRCm39)	K930*	probably null	Het
Ddx31	G	A	2: 28,764,188 (GRCm39)	V465I	probably benign	Het
Ddx54	C	T	5: 120,756,779 (GRCm39)	Q163*	probably null	Het
Dnmt3a	A	G	12: 3,947,406 (GRCm39)	E459G	probably damaging	Het
Dpp8	T	C	9: 64,970,844 (GRCm39)	S568P	possibly damaging	Het
Drap1	G	T	19: 5,474,219 (GRCm39)	T47K	probably damaging	Het
Epha7	G	T	4: 28,950,528 (GRCm39)	R777L	possibly damaging	Het
Far2	T	G	6: 148,052,273 (GRCm39)		probably null	Het
Fhdc1	T	C	3: 84,352,834 (GRCm39)	K797R	probably benign	Het
Gm10330	A	T	12: 23,830,094 (GRCm39)	M29K	probably damaging	Het
Grik3	A	T	4: 125,526,093 (GRCm39)	I109F	probably benign	Het
Il31ra	T	C	13: 112,688,522 (GRCm39)		probably null	Het
Itga1	T	G	13: 115,133,513 (GRCm39)	I466L	probably benign	Het
Itpr2	A	T	6: 146,287,371 (GRCm39)		probably null	Het
Mical3	A	C	6: 120,935,786 (GRCm39)	L1580R	possibly damaging	Het
Or14c43	T	A	7: 86,114,835 (GRCm39)	V72D	probably damaging	Het
Or4n4	T	C	14: 50,519,644 (GRCm39)	D22G	probably benign	Het
Palb2	T	A	7: 121,726,711 (GRCm39)	E386D	probably damaging	Het
Polm	C	A	11: 5,785,534 (GRCm39)	R175L	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Ptcd3	A	T	6: 71,885,627 (GRCm39)	V33D	probably benign	Het
Pwwp4c	C	T	X: 73,684,021 (GRCm39)	R355H	probably damaging	Homo
Ripk4	C	A	16: 97,549,237 (GRCm39)	R273L	probably damaging	Het
Rpap2	A	G	5: 107,803,153 (GRCm39)	T612A	probably damaging	Het
Serpinb10	A	G	1: 107,474,597 (GRCm39)	N253S	possibly damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Sim1	T	C	10: 50,784,823 (GRCm39)	I156T	possibly damaging	Het
Ski	A	T	4: 155,245,289 (GRCm39)		probably null	Het
Spaca7b	G	A	8: 11,705,661 (GRCm39)	Q39*	probably null	Het
Tent2	G	A	13: 93,291,526 (GRCm39)	A368V	probably benign	Het
Tent2	C	G	13: 93,291,527 (GRCm39)	A372P	probably benign	Het
Trdn	C	T	10: 33,314,811 (GRCm39)	R512C	probably damaging	Het
Trim33	T	C	3: 103,259,403 (GRCm39)	Y1031H	probably damaging	Het
Use1	T	C	8: 71,821,880 (GRCm39)	L188P	probably damaging	Het
Usp34	G	A	11: 23,362,318 (GRCm39)	G1588D	probably damaging	Het
Vmn2r33	C	A	7: 7,566,797 (GRCm39)	R105L	probably benign	Het
Vmn2r53	G	A	7: 12,335,360 (GRCm39)	S100F	probably 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
R3764:Pate8	UTSW	9	36,493,114 (GRCm39)	critical splice donor site	probably null
R5143:Pate8	UTSW	9	36,493,200 (GRCm39)	missense	probably benign	0.31
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'- CTAGAAATGAAGAGTGGCAATTCAACC -3'
(R):5'- TAGATGAATGATCGCCCTGAG -3'

Sequencing Primer
(F):5'- CTAACAGACAGGTATCAGGGCCTTG -3'
(R):5'- AATGATCGCCCTGAGATTCTGGATC -3'

Posted On

2018-08-29