Mutagenetix > Incidental Mutations

Incidental Mutation 'R1401:Pmepa1'

160097

Institutional Source

Beutler Lab

Gene Symbol

Pmepa1

Ensembl Gene

ENSMUSG00000038400

Gene Name

prostate transmembrane protein, androgen induced 1

Synonyms

N4wbp4, Tmepai, 2210418I02Rik, PMEPA1, STAG1

MMRRC Submission

039463-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1401 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

173224458-173276533 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 173228575 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036248] [ENSMUST00000139306] [ENSMUST00000139306]

Predicted Effect

probably null
Transcript: ENSMUST00000036248

SMART Domains

Protein: ENSMUSP00000039950
Gene: ENSMUSG00000038400

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124124

Predicted Effect

probably null
Transcript: ENSMUST00000139306

SMART Domains

Protein: ENSMUSP00000115534
Gene: ENSMUSG00000038400

Domain	Start	End	E-Value	Type
transmembrane domain	75	97	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139306

SMART Domains

Protein: ENSMUSP00000115534
Gene: ENSMUSG00000038400

Domain	Start	End	E-Value	Type
transmembrane domain	75	97	N/A	INTRINSIC

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

98% (87/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Abcg1	T	A	17: 31,114,158	I625N	possibly damaging	Het
Adam33	C	A	2: 131,051,471		probably benign	Het
Adgrl2	A	T	3: 148,822,981	I1185N	probably damaging	Het
Afp	A	T	5: 90,501,627		probably benign	Het
Aggf1	A	G	13: 95,364,848	V342A	probably benign	Het
Ankrd11	A	T	8: 122,893,050	S1333R	probably benign	Het
Arhgef11	C	A	3: 87,733,469	S1311*	probably null	Het
Atp6v1g1	T	C	4: 63,548,641	Y47H	probably benign	Het
Atp8b4	T	C	2: 126,323,093		probably null	Het
Barx2	A	G	9: 31,859,031	L67P	probably damaging	Het
Bbs7	G	A	3: 36,573,557	P694S	probably benign	Het
Btbd10	A	T	7: 113,347,059	V33E	probably benign	Het
C2	T	C	17: 34,872,481	T69A	possibly damaging	Het
C8b	T	G	4: 104,784,482	L205R	possibly damaging	Het
Cct4	T	G	11: 22,994,333	N72K	probably damaging	Het
Cd300lg	C	A	11: 102,054,155	P353H	possibly damaging	Het
Cdh20	A	T	1: 104,947,497	I335L	possibly damaging	Het
Cfhr2	T	A	1: 139,811,019	H268L	probably benign	Het
Chia1	T	A	3: 106,128,939	D278E	probably benign	Het
Cntn6	A	G	6: 104,804,398	T482A	possibly damaging	Het
Cst13	T	A	2: 148,823,096	F4I	probably benign	Het
Ctsc	T	A	7: 88,281,498	V95E	probably damaging	Het
Ddhd1	A	T	14: 45,605,051		probably null	Het
Dmxl2	A	T	9: 54,415,428		probably null	Het
Dnah5	A	C	15: 28,401,913	T3407P	probably damaging	Het
Dock1	T	A	7: 135,133,936	Y1344*	probably null	Het
Eif4g3	T	C	4: 138,206,084	V1740A	probably damaging	Het
Epb41l5	A	G	1: 119,578,904		probably benign	Het
Fam159b	A	T	13: 104,863,605	C37S	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Gm12790	A	G	4: 101,968,199	L6P	probably benign	Het
Gramd4	A	G	15: 86,125,196	D210G	probably damaging	Het
Hectd3	T	C	4: 117,002,269	S697P	possibly damaging	Het
Hsf4	T	C	8: 105,275,603	V399A	probably benign	Het
Hyal6	T	A	6: 24,743,435	C377S	probably damaging	Het
Myb	C	T	10: 21,152,945	V85M	probably damaging	Het
Mypn	A	G	10: 63,152,857	V463A	probably damaging	Het
Nav1	T	A	1: 135,460,425	I1144L	probably benign	Het
Nckap5	A	G	1: 126,014,661		probably benign	Het
Nipbl	A	T	15: 8,372,173	S30T	probably damaging	Het
Nmt1	T	C	11: 103,057,481	F277S	probably damaging	Het
Nploc4	A	C	11: 120,383,289		probably benign	Het
Nup54	C	A	5: 92,428,221	R137I	probably damaging	Het
Olfr667	T	C	7: 104,916,756	Y180C	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pkd1l1	G	T	11: 8,854,487	Y1701*	probably null	Het
Plekhg6	T	C	6: 125,363,109	T763A	probably damaging	Het
Ppfia2	A	G	10: 106,830,657	E408G	possibly damaging	Het
Pramef12	G	A	4: 144,395,088	T122M	probably benign	Het
Prl8a2	G	A	13: 27,353,996	V218I	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
RP23-114B10.6	T	C	8: 69,373,370		noncoding transcript	Het
Slc13a1	A	T	6: 24,118,083		probably null	Het
Slc17a8	T	A	10: 89,591,214	T342S	probably damaging	Het
Slc30a9	A	G	5: 67,352,662	E519G	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc39a5	G	A	10: 128,397,741	L296F	probably damaging	Het
Slco6b1	A	C	1: 96,929,885		noncoding transcript	Het
Slco6d1	G	A	1: 98,490,616	G509D	probably damaging	Het
Spen	A	G	4: 141,471,821	V3142A	probably damaging	Het
Spta1	T	A	1: 174,222,684	H1763Q	probably damaging	Het
Srcap	T	C	7: 127,559,952		probably benign	Het
Stard9	T	C	2: 120,712,847		probably benign	Het
Stat4	A	G	1: 52,071,947		probably benign	Het
Svbp	T	A	4: 119,196,028		probably benign	Het
Tm2d1	A	T	4: 98,370,596		probably benign	Het
Trpv1	C	A	11: 73,240,126		probably null	Het
Trrap	A	G	5: 144,857,422	D3713G	possibly damaging	Het
Ubr1	T	A	2: 120,955,644	D165V	probably benign	Het
Utrn	C	A	10: 12,649,153	M2195I	probably benign	Het
Vmn1r229	G	A	17: 20,814,642	V50I	possibly damaging	Het
Vmn1r44	A	T	6: 89,893,650	H126L	probably benign	Het
Vmn2r116	T	C	17: 23,386,596		probably benign	Het
Vmn2r27	A	C	6: 124,191,632	Y846*	probably null	Het
Vmn2r84	T	A	10: 130,391,990	S126C	possibly damaging	Het
Xylb	T	A	9: 119,368,067		probably benign	Het
Zfp282	A	T	6: 47,890,174	K232*	probably null	Het
Zfp39	C	A	11: 58,890,323	V538L	probably benign	Het
Zfp560	T	C	9: 20,351,853	N76D	possibly damaging	Het
Zmym4	C	T	4: 126,911,169	V433I	probably benign	Het
Zscan5b	A	G	7: 6,230,426	E83G	probably damaging	Het

Other mutations in Pmepa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1439:Pmepa1	UTSW	2	173228081	missense	probably benign	0.13
R1772:Pmepa1	UTSW	2	173234360	missense	probably damaging	1.00
R2228:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2229:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2380:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2381:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2382:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2385:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R2386:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3783:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3784:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3785:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R3787:Pmepa1	UTSW	2	173228133	missense	probably damaging	1.00
R4600:Pmepa1	UTSW	2	173228327	missense	possibly damaging	0.81
R5368:Pmepa1	UTSW	2	173228322	missense	probably damaging	1.00
R5982:Pmepa1	UTSW	2	173234312	missense	possibly damaging	0.82
R7371:Pmepa1	UTSW	2	173234419	missense	possibly damaging	0.73
R7640:Pmepa1	UTSW	2	173276163	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CACTGTCGAAGATGGTCCGGTTAG -3'
(R):5'- TTGGAAAGCCTACAGACAAGACAGC -3'

Sequencing Primer
(F):5'- GTTGGATTCCCCCAGATTCAGAG -3'
(R):5'- AGCAACAGTGTGGCCTTG -3'

Posted On

2014-03-14