Mutagenetix > Incidental Mutation

Incidental Mutation 'R8408:Pate1'

652531

Institutional Source

Beutler Lab

Gene Symbol

Pate1

Ensembl Gene

ENSMUSG00000091215

Gene Name

prostate and testis expressed 1

Synonyms

Gm17252

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35685079-35687390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35685122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 116 (R116W)

Ref Sequence

ENSEMBL: ENSMUSP00000130484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098906] [ENSMUST00000170021]

AlphaFold

E9Q658

Predicted Effect

probably benign
Transcript: ENSMUST00000098906

SMART Domains

Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170021
AA Change: R116W

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

SMART Domains

Protein: ENSMUSP00000130484
Gene: ENSMUSG00000091215
AA Change: R116W

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,189,582	T1236A	possibly damaging	Het
9930111J21Rik1	A	T	11: 48,948,002	M586K	probably damaging	Het
Adamts4	T	C	1: 171,252,745	V289A	possibly damaging	Het
Ankrd44	A	T	1: 54,723,098	D522E	probably benign	Het
Asb14	A	G	14: 26,915,110	Y603C	probably damaging	Het
Bcl7b	A	G	5: 135,168,454		probably benign	Het
Cd5	T	C	19: 10,723,105	K345R	possibly damaging	Het
Celsr3	T	C	9: 108,831,789	F1278S	probably damaging	Het
Cndp1	T	A	18: 84,631,924	T215S	possibly damaging	Het
Crygb	T	G	1: 65,080,550	R90S	probably damaging	Het
Dlg4	T	A	11: 70,042,252	F555I	possibly damaging	Het
Dnah3	C	T	7: 119,952,505	V2864M	probably damaging	Het
Dnttip2	A	G	3: 122,276,702	E522G	probably damaging	Het
Ercc4	G	C	16: 13,130,137	R406P	probably benign	Het
Foxp1	G	A	6: 98,945,582	P430S	unknown	Het
Galnt1	A	G	18: 24,267,571	T245A	probably benign	Het
Gm13101	A	G	4: 143,965,642	V263A	probably benign	Het
Gnl2	T	A	4: 125,044,289	N287K	probably damaging	Het
Jcad	C	A	18: 4,649,402	A91E	possibly damaging	Het
Kat6a	G	A	8: 22,862,259	V20I	probably damaging	Het
Kcnb2	A	G	1: 15,711,553	N883S	probably damaging	Het
Lrch3	A	T	16: 32,955,380	R205S	probably damaging	Het
Lrr1	A	G	12: 69,169,051	T66A	probably benign	Het
Lrrc37a	T	A	11: 103,460,809	I2569F	unknown	Het
Maip1	A	T	1: 57,409,943	Q161L	probably damaging	Het
Neb	T	C	2: 52,157,911	E6699G	probably benign	Het
Nup205	A	G	6: 35,225,247	R1305G	probably damaging	Het
Olfr203	A	T	16: 59,304,055	R301*	probably null	Het
Olfr378	T	A	11: 73,425,968	N5I	probably damaging	Het
Pcsk5	T	G	19: 17,433,445	E1861A	probably benign	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Per1	A	T	11: 69,109,127	D1215V	possibly damaging	Het
Phactr2	A	G	10: 13,253,826	S233P	probably damaging	Het
Rgsl1	T	A	1: 153,825,689	N340Y	possibly damaging	Het
Rhot1	C	T	11: 80,223,960	P65S	probably damaging	Het
Scrn2	T	C	11: 97,031,043	L113P	probably damaging	Het
Sema6a	T	C	18: 47,248,891	K863R	probably benign	Het
Slc15a1	A	G	14: 121,478,116	V337A	possibly damaging	Het
Slc25a1	T	C	16: 17,925,856	D298G	probably benign	Het
Slc25a22	G	A	7: 141,431,824	P168S	probably benign	Het
Slc29a4	A	T	5: 142,705,354		probably null	Het
Slc35d1	T	C	4: 103,189,810	T264A		Het
Spice1	T	C	16: 44,384,697	S789P	probably damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Tectb	T	C	19: 55,189,667		probably null	Het
Ttn	T	A	2: 76,714,466	Y32764F	probably damaging	Het
Utrn	T	G	10: 12,670,143	S1684R	possibly damaging	Het
Zic1	G	T	9: 91,364,794	A75E	probably damaging	Het
Zswim4	A	G	8: 84,212,385	V956A	possibly damaging	Het

Other mutations in Pate1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1420:Pate1	UTSW	9	35685209	missense	probably damaging	1.00
R6369:Pate1	UTSW	9	35687028	missense	probably benign	0.03
R7175:Pate1	UTSW	9	35685112	missense	probably damaging	1.00
R7326:Pate1	UTSW	9	35685972	missense	possibly damaging	0.93
R8447:Pate1	UTSW	9	35686335	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GTTTCAAAACAGGAAGGGACTTTAG -3'
(R):5'- GGTGTACAAACTCCACATGGTG -3'

Sequencing Primer
(F):5'- GGACTTTAGAAAAAGGGTGCTTTCCC -3'
(R):5'- CTCCACATGGTGATTTTTAGATGC -3'

Posted On

2020-10-20