Mutagenetix > Incidental Mutation

Incidental Mutation 'R5289:Plag1'

424578

Institutional Source

Beutler Lab

Gene Symbol

Plag1

Ensembl Gene

ENSMUSG00000003282

Gene Name

pleiomorphic adenoma gene 1

Synonyms

MMRRC Submission

042872-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

R5289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3900996-3938423 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3905545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 48 (K48N)

Ref Sequence

ENSEMBL: ENSMUSP00000003369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003369] [ENSMUST00000137439] [ENSMUST00000151543]

AlphaFold

Q9QYE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003369
AA Change: K48N

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

SMART Domains

Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282
AA Change: K48N

Domain	Start	End	E-Value	Type
ZnF_C2H2	34	56	2.2e-2	SMART
ZnF_C2H2	62	86	1.6e-4	SMART
ZnF_C2H2	92	114	1.89e-1	SMART
ZnF_C2H2	121	143	5.99e-4	SMART
ZnF_C2H2	150	172	2.86e-1	SMART
ZnF_C2H2	185	207	1.03e-2	SMART
ZnF_C2H2	213	236	8.94e-3	SMART
low complexity region	364	379	N/A	INTRINSIC
low complexity region	396	411	N/A	INTRINSIC
low complexity region	471	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137439

Predicted Effect

probably benign
Transcript: ENSMUST00000151543

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced male fertility, small seminal vesicles and ventral prostate, reduced litter size (females only), reduced embryonic and postnatal growth, and delayed eyelid opening. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 37,000,109	Q3126K	probably damaging	Het
Adgrv1	A	G	13: 81,521,084	V1731A	probably benign	Het
Ahcyl1	A	G	3: 107,669,890		probably null	Het
Aox1	T	A	1: 58,092,558	M1042K	probably damaging	Het
Atp10d	C	A	5: 72,255,123	Q590K	probably benign	Het
Atp8b1	G	T	18: 64,546,087	N774K	possibly damaging	Het
Atrnl1	C	T	19: 57,657,082	T458M	probably damaging	Het
BC005561	G	A	5: 104,519,657	V682I	probably benign	Het
Cnr1	T	A	4: 33,943,910	C99*	probably null	Het
Cnr2	A	G	4: 135,917,007	Y132C	probably damaging	Het
Commd9	C	T	2: 101,898,894	A115V	probably benign	Het
Diaph3	A	G	14: 86,981,678	F426S	probably damaging	Het
Diras1	G	A	10: 81,022,244	Q58*	probably null	Het
Dpy19l2	A	G	9: 24,695,997	L56P	probably benign	Het
Dsc1	A	T	18: 20,101,853	V248D	possibly damaging	Het
Frem3	A	G	8: 80,612,319	M414V	probably benign	Het
Frmd4b	G	T	6: 97,302,348		probably null	Het
Gabarapl2	T	C	8: 111,942,595	W62R	probably damaging	Het
Glt1d1	A	G	5: 127,644,356	R36G	probably benign	Het
Grb10	T	C	11: 11,944,924		silent	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hc	A	G	2: 34,996,014		probably null	Het
Hgd	A	G	16: 37,628,551	E379G	possibly damaging	Het
Ifi30	A	T	8: 70,766,601		probably benign	Het
Iqgap1	T	C	7: 80,738,724	I842V	possibly damaging	Het
Iqsec3	T	A	6: 121,386,700		probably null	Het
Kalrn	A	G	16: 34,252,341	S724P	possibly damaging	Het
Lama2	C	A	10: 27,212,073	G903*	probably null	Het
Lrrc10	T	C	10: 117,045,487	V22A	probably benign	Het
Lzts3	T	C	2: 130,636,101	E245G	probably benign	Het
Man2a1	A	G	17: 64,651,227	T246A	probably damaging	Het
Mfsd13a	A	G	19: 46,368,280	E240G	probably benign	Het
Mtor	T	C	4: 148,466,092	I735T	possibly damaging	Het
Naa15	A	T	3: 51,455,894	H333L	probably damaging	Het
Nes	C	A	3: 87,978,418	T1284K	probably damaging	Het
Nexn	T	G	3: 152,248,072	H173P	probably benign	Het
Nid2	T	C	14: 19,805,311	V1173A	possibly damaging	Het
Npepps	A	G	11: 97,240,927		probably null	Het
Pgm2	T	A	4: 99,967,069	M313K	probably damaging	Het
Pih1d3	A	T	1: 31,223,527	I197F	probably benign	Het
Prok1	G	C	3: 107,239,619	L11V	probably benign	Het
Ptpn9	T	C	9: 57,060,063		probably null	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc38a4	A	T	15: 97,010,348	F171I	possibly damaging	Het
Sycp1	A	T	3: 102,934,253	N78K	possibly damaging	Het
Tas2r110	T	C	6: 132,868,009	M1T	probably null	Het
Tmem260	G	A	14: 48,486,810	V182M	possibly damaging	Het
Tmem30a	A	T	9: 79,776,154	N144K	probably damaging	Het
Vmn2r108	A	G	17: 20,471,604	L219P	probably damaging	Het
Vmn2r57	A	G	7: 41,399,974	S784P	probably damaging	Het
Vwf	T	C	6: 125,667,510		probably benign	Het
Wdr62	A	C	7: 30,267,875	V318G	probably damaging	Het
Zfp398	T	A	6: 47,863,181	S115T	probably benign	Het
Zfp62	T	A	11: 49,217,148	C689S	probably damaging	Het
Zmynd15	C	G	11: 70,466,004	P580R	unknown	Het

Other mutations in Plag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Plag1	APN	4	3904055	missense	probably damaging	0.99
IGL01775:Plag1	APN	4	3904513	missense	probably damaging	1.00
IGL02738:Plag1	APN	4	3903812	nonsense	probably null
extracted	UTSW	4	3904676	missense	probably damaging	1.00
Rehab	UTSW	4	3904546	missense	probably damaging	1.00
scrawny	UTSW	4	3905463	nonsense	probably null
PIT4378001:Plag1	UTSW	4	3905492	missense	probably benign	0.16
R0217:Plag1	UTSW	4	3904379	missense	probably benign	0.05
R0359:Plag1	UTSW	4	3904546	missense	probably damaging	1.00
R0554:Plag1	UTSW	4	3904546	missense	probably damaging	1.00
R0892:Plag1	UTSW	4	3904532	nonsense	probably null
R1541:Plag1	UTSW	4	3904085	missense	probably benign
R1964:Plag1	UTSW	4	3903956	missense	probably benign
R2011:Plag1	UTSW	4	3904889	missense	probably damaging	1.00
R2012:Plag1	UTSW	4	3904870	missense	probably damaging	1.00
R2126:Plag1	UTSW	4	3904169	missense	possibly damaging	0.50
R3982:Plag1	UTSW	4	3904055	missense	probably damaging	0.97
R4285:Plag1	UTSW	4	3905654	missense	probably benign	0.13
R5244:Plag1	UTSW	4	3903887	missense	probably benign	0.02
R5386:Plag1	UTSW	4	3904075	missense	probably benign
R5428:Plag1	UTSW	4	3905538	missense	possibly damaging	0.94
R5608:Plag1	UTSW	4	3905463	nonsense	probably null
R5755:Plag1	UTSW	4	3904492	missense	possibly damaging	0.94
R6036:Plag1	UTSW	4	3904618	missense	possibly damaging	0.94
R6036:Plag1	UTSW	4	3904618	missense	possibly damaging	0.94
R6080:Plag1	UTSW	4	3903815	missense	probably benign
R6296:Plag1	UTSW	4	3904499	missense	probably damaging	1.00
R7038:Plag1	UTSW	4	3904676	missense	probably damaging	1.00
R7116:Plag1	UTSW	4	3904812	nonsense	probably null
R8435:Plag1	UTSW	4	3905648	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAACATTTCCTCTCTGCAAATCAGC -3'
(R):5'- TTCCCAGGTGTCCAACAAGAAG -3'

Sequencing Primer
(F):5'- TCTGCAAATCAGCTGAGAAATGTG -3'
(R):5'- TCCAACAAGAAGGCCTGGTTTAG -3'

Posted On

2016-08-04