Mutagenetix > Incidental Mutation

Incidental Mutation 'R5143:Pate8'

396528

Institutional Source

Beutler Lab

Gene Symbol

Pate8

Ensembl Gene

ENSMUSG00000091248

Gene Name

prostate and testis expressed 8

Synonyms

Gm17689

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36492574-36493931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36493200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 41 (N41Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126891 (fasta)

Gene Model

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

AlphaFold

B3GLJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000170030
AA Change: N41Y

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,064 (GRCm39)		probably null	Het
Abcc2	T	C	19: 43,810,100 (GRCm39)	I886T	probably benign	Het
Adrb2	T	C	18: 62,311,847 (GRCm39)	Y326C	probably damaging	Het
Aplp1	G	A	7: 30,140,548 (GRCm39)	R334C	probably damaging	Het
AY358078	T	C	14: 52,040,006 (GRCm39)	S39P	unknown	Het
Bpifb2	A	T	2: 153,720,424 (GRCm39)	D61V	probably damaging	Het
Caap1	A	T	4: 94,389,619 (GRCm39)	N238K	probably damaging	Het
Cfap54	A	G	10: 92,865,020 (GRCm39)	V726A	possibly damaging	Het
Chrna7	T	C	7: 62,755,895 (GRCm39)	Y217C	probably damaging	Het
Crocc	T	A	4: 140,768,350 (GRCm39)	T414S	probably benign	Het
Cyp2a12	A	G	7: 26,736,036 (GRCm39)	I482V	probably benign	Het
Dnah6	A	T	6: 73,158,744 (GRCm39)	F620I	possibly damaging	Het
Eogt	A	G	6: 97,102,545 (GRCm39)	L256P	probably damaging	Het
F5	A	G	1: 164,039,397 (GRCm39)	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,922,493 (GRCm39)		probably null	Het
Fut8	A	G	12: 77,411,983 (GRCm39)	D111G	probably benign	Het
Golgb1	C	T	16: 36,719,051 (GRCm39)	A319V	probably benign	Het
Hoxd3	C	T	2: 74,576,716 (GRCm39)	R39C	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Or52b1	T	A	7: 104,978,731 (GRCm39)	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,429,785 (GRCm39)	Y586C	probably damaging	Het
Plcd1	G	A	9: 118,903,519 (GRCm39)	Q442*	probably null	Het
Plppr5	A	G	3: 117,419,552 (GRCm39)	T207A	probably benign	Het
Pomt1	C	A	2: 32,144,341 (GRCm39)	A709E	probably benign	Het
Prmt8	A	G	6: 127,709,677 (GRCm39)	M61T	probably benign	Het
Ptpn23	A	G	9: 110,214,506 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 110,021,747 (GRCm39)	K493*	probably null	Het
Semp2l2a	A	G	8: 13,886,844 (GRCm39)	S416P	possibly damaging	Het
Tmc2	A	T	2: 130,076,738 (GRCm39)	S355C	probably damaging	Het
Tonsl	A	G	15: 76,520,857 (GRCm39)	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,863,050 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,568,409 (GRCm39)	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,490,685 (GRCm39)	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,804,120 (GRCm39)	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,553,979 (GRCm39)	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,645,948 (GRCm39)	V41A	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
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'- CCAGCCAATACCAGGGGAAG -3'
(R):5'- CTCTTTCCAGAGGCCTGCTG -3'

Sequencing Primer
(F):5'- TACCAGGGGAAGGGAGCCC -3'
(R):5'- TGGGGTCAGCAAAACATACAAC -3'

Posted On

2016-06-21