Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Plag1'

551756

Institutional Source

Beutler Lab

Gene Symbol

Plag1

Ensembl Gene

ENSMUSG00000003282

Gene Name

pleiomorphic adenoma gene 1

Synonyms

MMRRC Submission

045207-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3900996-3938423 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 3904812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 126 (C126*)

Ref Sequence

ENSEMBL: ENSMUSP00000003369 (fasta)

Gene Model

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

AlphaFold

Q9QYE0

Predicted Effect

probably null
Transcript: ENSMUST00000003369
AA Change: C126*

SMART Domains

Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282
AA Change: C126*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
R5289:Plag1	UTSW	4	3905545	missense	probably damaging	1.00
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
R8435:Plag1	UTSW	4	3905648	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGTACCACCATGTGTCTCC -3'
(R):5'- GTGCTAAGATAATCACTCACTCAC -3'

Sequencing Primer
(F):5'- CATCCTTCCGGGTGTAGAAC -3'
(R):5'- TCACCGGAAAGACCATCT -3'

Posted On

2019-05-15