Mutagenetix > Incidental Mutation

Incidental Mutation 'R7175:Pate1'

558552

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 #

R7175 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35685079-35687390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35685112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 119 (D119A)

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: D119A

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

SMART Domains

Protein: ENSMUSP00000130484
Gene: ENSMUSG00000091215
AA Change: D119A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,251,789		probably null	Het
4932415D10Rik	T	A	10: 82,286,749	S3476C	probably damaging	Het
Abcb5	G	A	12: 118,867,876	T1247I	probably benign	Het
Afdn	T	C	17: 13,888,607	L1479P	probably damaging	Het
Alox12e	T	C	11: 70,319,708	R363G	probably damaging	Het
Ank2	A	T	3: 126,946,941	S1765T	unknown	Het
Anks6	T	C	4: 47,046,268		probably null	Het
Apob	A	C	12: 8,007,034	I1839L	probably benign	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Ccs	T	A	19: 4,833,362	D136V	probably damaging	Het
Cd200	T	C	16: 45,400,215		probably null	Het
Cirbp	T	C	10: 80,170,463	S130P	probably benign	Het
Cpb1	A	G	3: 20,263,763	I199T	probably benign	Het
Csn3	C	T	5: 87,929,727	R31C	probably damaging	Het
Dcaf1	A	T	9: 106,858,576	I908F	probably benign	Het
Dhcr7	C	T	7: 143,845,490	T199I	probably damaging	Het
Dnah9	T	A	11: 66,133,637	Q277L	probably benign	Het
Echdc2	C	A	4: 108,174,169	P237T	probably damaging	Het
Eif4g3	A	G	4: 138,126,215	N364S	probably damaging	Het
Eml6	T	A	11: 29,784,231	I1170L	probably benign	Het
Epha3	C	T	16: 63,583,500	R746Q	probably damaging	Het
Exosc5	G	A	7: 25,664,369	C102Y	probably damaging	Het
Fam105a	A	C	15: 27,658,288	D165E	probably damaging	Het
Fam91a1	A	T	15: 58,430,678	Y289F	probably benign	Het
Fbxo38	A	C	18: 62,515,473	F665V	probably benign	Het
Fcrl5	T	C	3: 87,446,338	V330A	probably benign	Het
Fer	T	A	17: 63,924,095	D280E	probably benign	Het
Gm11639	T	C	11: 104,947,411	V3625A	unknown	Het
Gpr158	A	G	2: 21,368,302	H16R	probably benign	Het
Gzmg	C	T	14: 56,159,522	M1I	probably null	Het
Hectd4	C	T	5: 121,273,629	A456V	possibly damaging	Het
Hk2	T	A	6: 82,734,849	Q613L	probably benign	Het
Itsn1	T	C	16: 91,868,050	F1121L	unknown	Het
Lztr1	G	T	16: 17,523,031	C557F	possibly damaging	Het
Mdn1	A	G	4: 32,694,634	Y1119C	probably damaging	Het
Nfkb1	A	T	3: 135,613,990	L248Q	probably damaging	Het
Olfr130	T	A	17: 38,067,479	S103T	probably damaging	Het
Olfr403	T	A	11: 74,196,178	L225*	probably null	Het
Olfr404-ps1	T	C	11: 74,239,977	F138L	probably benign	Het
Olfr596	T	C	7: 103,309,847	V42A	probably benign	Het
Pcdhgc4	T	C	18: 37,816,371	V280A	possibly damaging	Het
Pik3ap1	T	C	19: 41,287,490	D717G	probably damaging	Het
Prdm13	A	T	4: 21,679,473	L339Q	unknown	Het
Rasgrf1	T	A	9: 89,980,749	N519K	probably benign	Het
Rergl	A	G	6: 139,496,535	V39A	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sema4b	T	A	7: 80,198,654	M1K	probably null	Het
Slc20a1	T	G	2: 129,210,742	L648R	probably damaging	Het
Speg	A	G	1: 75,422,490	T2194A	probably benign	Het
Spns1	T	C	7: 126,373,789	D215G	probably damaging	Het
Tle4	A	T	19: 14,451,707	V717E	probably damaging	Het
Trim50	T	A	5: 135,353,297	M1K	probably null	Het
Trpa1	A	G	1: 14,893,207	V597A	possibly damaging	Het
Usp13	C	T	3: 32,917,608	Q746*	probably null	Het
Vmn1r35	A	T	6: 66,678,922	W255R	probably benign	Het
Vps35	A	T	8: 85,263,560		probably null	Het
Vps54	T	C	11: 21,315,028		probably null	Het
Zfp318	T	A	17: 46,386,848	L210Q	probably damaging	Het
Zfp319	C	A	8: 95,328,782	K264N	probably damaging	Het
Zfp62	C	T	11: 49,216,753	S557L	probably damaging	Het
Zgrf1	T	C	3: 127,563,590	S822P	probably damaging	Het
Zxdc	A	G	6: 90,369,663	D2G	possibly damaging	Het
Zzef1	T	C	11: 72,851,901	I769T	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
R7326:Pate1	UTSW	9	35685972	missense	possibly damaging	0.93
R8408:Pate1	UTSW	9	35685122	missense	probably damaging	1.00
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

2019-06-26