Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Pmepa1'

702153

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

068962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9260 (G1)

Quality Score

104.467

Status

Validated

Chromosome

Chromosomal Location

173066251-173118326 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CCGGCGGCGGCGGCGGCGG to CCGGCGGCGGCGGCGG at 173117943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115534 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036248

SMART Domains

Protein: ENSMUSP00000039950
Gene: ENSMUSG00000038400

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139306

SMART Domains

Protein: ENSMUSP00000115534
Gene: ENSMUSG00000038400

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,074,359 (GRCm39)	I298T	probably damaging	Het
Bmper	T	A	9: 23,318,016 (GRCm39)	L545H	probably benign	Het
Cacnb3	A	G	15: 98,537,438 (GRCm39)	S39G	probably benign	Het
Casr	T	C	16: 36,330,326 (GRCm39)	K336R	probably benign	Het
Ccdc141	C	A	2: 76,844,795 (GRCm39)	G1424V	probably damaging	Het
Cd101	A	T	3: 100,920,599 (GRCm39)	D437E	probably benign	Het
Chadl	A	G	15: 81,578,058 (GRCm39)	S524P	probably damaging	Het
Cimap2	T	C	4: 106,472,634 (GRCm39)	K84E	probably benign	Het
Clec4a4	C	T	6: 123,000,895 (GRCm39)	R203*	probably null	Het
Cntnap4	A	G	8: 113,500,276 (GRCm39)	I523V	probably benign	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,642,766 (GRCm39)	S229R	possibly damaging	Het
Dnajc15	A	G	14: 78,081,839 (GRCm39)	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,108,447 (GRCm39)	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,278 (GRCm39)	V675A	probably benign	Het
F10	G	A	8: 13,105,638 (GRCm39)	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Fpr1	A	T	17: 18,098,006 (GRCm39)		probably benign	Het
Frem2	G	C	3: 53,560,204 (GRCm39)	S1434R	probably damaging	Het
Gli3	G	T	13: 15,899,675 (GRCm39)	V1021F	probably damaging	Het
Gm7168	A	T	17: 14,169,488 (GRCm39)	N285I	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc1	T	A	9: 66,325,691 (GRCm39)	C1388*	probably null	Het
Hikeshi	T	C	7: 89,579,776 (GRCm39)		probably benign	Het
Hjv	T	A	3: 96,435,579 (GRCm39)	I279N	probably damaging	Het
Igfn1	T	C	1: 135,907,694 (GRCm39)	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,298,737 (GRCm39)	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,237,457 (GRCm39)	I95F	probably damaging	Het
Il31ra	A	T	13: 112,668,202 (GRCm39)	S456T	probably damaging	Het
Ints3	T	C	3: 90,308,468 (GRCm39)	D610G	probably damaging	Het
Iqcg	G	A	16: 32,855,973 (GRCm39)	Q201*	probably null	Het
Kat14	T	A	2: 144,235,441 (GRCm39)	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,298,852 (GRCm39)	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,528,069 (GRCm39)	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,701,775 (GRCm39)	T595A	probably benign	Het
Lct	C	T	1: 128,227,704 (GRCm39)	W1263*	probably null	Het
Micall2	T	A	5: 139,695,453 (GRCm39)	M905L	unknown	Het
Mkrn1	T	C	6: 39,382,530 (GRCm39)		probably benign	Het
Mobp	A	G	9: 119,997,572 (GRCm39)	T164A	unknown	Het
Mtrr	T	C	13: 68,728,674 (GRCm39)	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,405,255 (GRCm39)	W888R	unknown	Het
Myh7	G	A	14: 55,224,842 (GRCm39)	A575V	probably damaging	Het
Nbea	A	C	3: 55,891,233 (GRCm39)	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,362,216 (GRCm39)		probably null	Het
Nsun4	T	C	4: 115,902,007 (GRCm39)	Y153C	probably damaging	Het
Nup210	A	G	6: 91,039,785 (GRCm39)	I690T	probably benign	Het
Nyap2	T	A	1: 81,064,835 (GRCm39)		probably benign	Het
Oaz1	T	A	10: 80,662,603 (GRCm39)	S4T	possibly damaging	Het
Optn	C	T	2: 5,045,076 (GRCm39)	C222Y	probably benign	Het
Or11i1	A	G	3: 106,729,510 (GRCm39)	S122P	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,271 (GRCm39)	V222E		Het
Or5ac19	T	C	16: 59,089,677 (GRCm39)	M118V	probably damaging	Het
Or6c76b	G	A	10: 129,692,458 (GRCm39)	V24M	probably benign	Het
Or7a40	A	T	16: 16,491,337 (GRCm39)	C169*	probably null	Het
Osmr	T	A	15: 6,882,033 (GRCm39)	H37L	probably benign	Het
Pccb	G	T	9: 100,877,643 (GRCm39)	P287Q	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,526,572 (GRCm39)		probably null	Het
Pde9a	T	C	17: 31,678,137 (GRCm39)		probably null	Het
Pdk2	C	A	11: 94,930,260 (GRCm39)	V59F	probably damaging	Het
Pgm1	T	A	4: 99,827,186 (GRCm39)	V362E	probably damaging	Het
Pold4	T	C	19: 4,282,904 (GRCm39)	F97S	possibly damaging	Het
Ppp5c	C	T	7: 16,740,886 (GRCm39)	V361I	probably benign	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,863,033 (GRCm39)	I84F	probably damaging	Het
Smg7	A	G	1: 152,737,549 (GRCm39)	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,078,428 (GRCm39)	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,753,456 (GRCm39)	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,663,554 (GRCm39)	G109R	possibly damaging	Het
Thap12	C	T	7: 98,356,280 (GRCm39)	R56*	probably null	Het
Ttn	T	C	2: 76,645,919 (GRCm39)	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uqcrfs1	G	A	13: 30,725,108 (GRCm39)	A144V	probably damaging	Het
Usp13	T	A	3: 32,955,909 (GRCm39)		probably benign	Het
Wdr19	T	A	5: 65,363,789 (GRCm39)	D67E	possibly damaging	Het
Zfp998	A	T	13: 66,579,375 (GRCm39)	H369Q	unknown	Het
Zkscan3	A	T	13: 21,578,210 (GRCm39)	W226R	probably damaging	Het
Zmym5	A	C	14: 57,041,641 (GRCm39)	F154C	probably damaging	Het

Other mutations in Pmepa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1401:Pmepa1	UTSW	2	173,070,368 (GRCm39)	critical splice donor site	probably null
R1439:Pmepa1	UTSW	2	173,069,874 (GRCm39)	missense	probably benign	0.13
R1772:Pmepa1	UTSW	2	173,076,153 (GRCm39)	missense	probably damaging	1.00
R2228:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R2229:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R2380:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R2381:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R2382:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R2385:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R2386:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R3783:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R3784:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R3785:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R3787:Pmepa1	UTSW	2	173,069,926 (GRCm39)	missense	probably damaging	1.00
R4600:Pmepa1	UTSW	2	173,070,120 (GRCm39)	missense	possibly damaging	0.81
R5368:Pmepa1	UTSW	2	173,070,115 (GRCm39)	missense	probably damaging	1.00
R5982:Pmepa1	UTSW	2	173,076,105 (GRCm39)	missense	possibly damaging	0.82
R7371:Pmepa1	UTSW	2	173,076,212 (GRCm39)	missense	possibly damaging	0.73
R7640:Pmepa1	UTSW	2	173,117,956 (GRCm39)	missense	probably benign	0.02
R8221:Pmepa1	UTSW	2	173,069,700 (GRCm39)	missense	probably damaging	1.00
R8810:Pmepa1	UTSW	2	173,069,628 (GRCm39)	missense	probably damaging	0.99
R9227:Pmepa1	UTSW	2	173,117,962 (GRCm39)	missense	probably benign	0.06
R9228:Pmepa1	UTSW	2	173,117,962 (GRCm39)	missense	probably benign	0.06
R9229:Pmepa1	UTSW	2	173,117,962 (GRCm39)	missense	probably benign	0.06
R9568:Pmepa1	UTSW	2	173,069,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTAATTGCTCCATCGC -3'
(R):5'- CTTGGACTTGAATGAGGAGCGG -3'

Sequencing Primer
(F):5'- CGGAATGGAAACTTCCCCGAC -3'
(R):5'- GCTCAGCTGCGGATCGG -3'

Posted On

2022-03-25