Mutagenetix > Incidental Mutation

Incidental Mutation 'R5428:Plag1'

426998

Institutional Source

Beutler Lab

Gene Symbol

Plag1

Ensembl Gene

ENSMUSG00000003282

Gene Name

pleiomorphic adenoma gene 1

Synonyms

MMRRC Submission

042994-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R5428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3900996-3938423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3905538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 51 (V51I)

Ref Sequence

ENSEMBL: ENSMUSP00000003369 (fasta)

Gene Model

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

AlphaFold

Q9QYE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003369
AA Change: V51I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003369
Gene: ENSMUSG00000003282
AA Change: V51I

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

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,635,918 (GRCm39)	V324L	probably benign	Het
Abl2	T	C	1: 156,469,681 (GRCm39)	C982R	probably damaging	Het
Adgrl4	G	A	3: 151,248,323 (GRCm39)	C665Y	probably damaging	Het
Adra1d	A	G	2: 131,403,323 (GRCm39)	S256P	probably damaging	Het
Aipl1	T	A	11: 71,921,313 (GRCm39)	Y194F	probably benign	Het
Arfgef1	C	A	1: 10,231,060 (GRCm39)	D1150Y	probably damaging	Het
Arl14epl	A	T	18: 47,059,387 (GRCm39)	M1L	possibly damaging	Het
Colgalt1	G	T	8: 72,075,420 (GRCm39)	R442L	probably damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dach1	A	G	14: 98,406,705 (GRCm39)	V14A	unknown	Het
Defa30	A	G	8: 21,625,419 (GRCm39)	D61G	probably benign	Het
Dnaja2	A	T	8: 86,266,804 (GRCm39)	C308S	probably benign	Het
Emc4	A	G	2: 112,197,700 (GRCm39)		probably benign	Het
Foxp1	A	G	6: 98,993,592 (GRCm39)	V104A	probably damaging	Het
Fry	T	G	5: 150,328,824 (GRCm39)	L1319R	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja10	T	A	4: 32,601,169 (GRCm39)	H405L	probably benign	Het
Gm27047	A	G	6: 130,607,527 (GRCm39)		noncoding transcript	Het
Grm1	T	A	10: 10,595,307 (GRCm39)	T774S	probably damaging	Het
Gtse1	A	C	15: 85,746,340 (GRCm39)	D52A	probably benign	Het
Kctd17	T	A	15: 78,312,982 (GRCm39)	F42Y	probably damaging	Het
Kndc1	A	G	7: 139,488,878 (GRCm39)	K178E	probably damaging	Het
Lrrc74b	T	C	16: 17,376,125 (GRCm39)	E175G	probably damaging	Het
Macf1	A	G	4: 123,278,661 (GRCm39)	I5927T	probably damaging	Het
Maml2	A	G	9: 13,617,191 (GRCm39)	N935S	probably benign	Het
Man2a1	A	G	17: 65,019,295 (GRCm39)	I720V	probably benign	Het
Map3k5	C	T	10: 19,899,399 (GRCm39)	H219Y	possibly damaging	Het
Map4k5	T	C	12: 69,884,787 (GRCm39)	T314A	possibly damaging	Het
Mast3	A	G	8: 71,237,377 (GRCm39)	V615A	possibly damaging	Het
Mcmbp	C	T	7: 128,306,248 (GRCm39)	V457I	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nacc1	T	C	8: 85,402,783 (GRCm39)	I337V	probably damaging	Het
Nipbl	T	C	15: 8,359,780 (GRCm39)	D1475G	probably benign	Het
Orc1	T	A	4: 108,457,137 (GRCm39)	D392E	probably benign	Het
Pappa2	T	C	1: 158,642,355 (GRCm39)	T1297A	possibly damaging	Het
Ppp1r12a	G	A	10: 108,089,208 (GRCm39)	E616K	possibly damaging	Het
Ptgs1	A	G	2: 36,135,280 (GRCm39)	M415V	probably benign	Het
Ralgapa2	C	T	2: 146,176,414 (GRCm39)	E1683K	probably damaging	Het
Rap2a	T	A	14: 120,716,406 (GRCm39)	F90I	probably benign	Het
Rcvrn	A	G	11: 67,590,875 (GRCm39)	E153G	possibly damaging	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skil	T	A	3: 31,151,647 (GRCm39)	D56E	probably benign	Het
Slc22a18	G	T	7: 143,033,082 (GRCm39)	G57W	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Synj1	T	C	16: 90,788,406 (GRCm39)	D154G	probably damaging	Het
Tbc1d24	A	T	17: 24,400,746 (GRCm39)	N156K	probably benign	Het
Tcea1	A	T	1: 4,950,568 (GRCm39)		probably benign	Het
Tmc3	T	C	7: 83,261,755 (GRCm39)	V611A	probably damaging	Het
Tnrc6c	A	G	11: 117,591,588 (GRCm39)	M1V	probably null	Het
Tomm5	A	T	4: 45,106,689 (GRCm39)		probably benign	Het
Ttc6	A	G	12: 57,736,620 (GRCm39)	K1207R	probably null	Het
Ttn	T	C	2: 76,591,448 (GRCm39)	T12747A	possibly damaging	Het
Ttn	A	T	2: 76,715,480 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,569,175 (GRCm39)	D1147G	probably benign	Het
Vmn1r53	T	C	6: 90,200,395 (GRCm39)	I310V	probably benign	Het
Washc4	A	C	10: 83,410,386 (GRCm39)	D658A	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Ylpm1	T	C	12: 85,077,003 (GRCm39)	F1243L	probably benign	Het
Zbtb24	T	C	10: 41,340,784 (GRCm39)	S605P	probably benign	Het
Zfy1	T	G	Y: 726,205 (GRCm39)	H520P	possibly damaging	Het

Other mutations in Plag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Plag1	APN	4	3,904,055 (GRCm39)	missense	probably damaging	0.99
IGL01775:Plag1	APN	4	3,904,513 (GRCm39)	missense	probably damaging	1.00
IGL02738:Plag1	APN	4	3,903,812 (GRCm39)	nonsense	probably null
extracted	UTSW	4	3,904,676 (GRCm39)	missense	probably damaging	1.00
Rehab	UTSW	4	3,904,546 (GRCm39)	missense	probably damaging	1.00
scrawny	UTSW	4	3,905,463 (GRCm39)	nonsense	probably null
PIT4378001:Plag1	UTSW	4	3,905,492 (GRCm39)	missense	probably benign	0.16
R0217:Plag1	UTSW	4	3,904,379 (GRCm39)	missense	probably benign	0.05
R0359:Plag1	UTSW	4	3,904,546 (GRCm39)	missense	probably damaging	1.00
R0554:Plag1	UTSW	4	3,904,546 (GRCm39)	missense	probably damaging	1.00
R0892:Plag1	UTSW	4	3,904,532 (GRCm39)	nonsense	probably null
R1541:Plag1	UTSW	4	3,904,085 (GRCm39)	missense	probably benign
R1964:Plag1	UTSW	4	3,903,956 (GRCm39)	missense	probably benign
R2011:Plag1	UTSW	4	3,904,889 (GRCm39)	missense	probably damaging	1.00
R2012:Plag1	UTSW	4	3,904,870 (GRCm39)	missense	probably damaging	1.00
R2126:Plag1	UTSW	4	3,904,169 (GRCm39)	missense	possibly damaging	0.50
R3982:Plag1	UTSW	4	3,904,055 (GRCm39)	missense	probably damaging	0.97
R4285:Plag1	UTSW	4	3,905,654 (GRCm39)	missense	probably benign	0.13
R5244:Plag1	UTSW	4	3,903,887 (GRCm39)	missense	probably benign	0.02
R5289:Plag1	UTSW	4	3,905,545 (GRCm39)	missense	probably damaging	1.00
R5386:Plag1	UTSW	4	3,904,075 (GRCm39)	missense	probably benign
R5608:Plag1	UTSW	4	3,905,463 (GRCm39)	nonsense	probably null
R5755:Plag1	UTSW	4	3,904,492 (GRCm39)	missense	possibly damaging	0.94
R6036:Plag1	UTSW	4	3,904,618 (GRCm39)	missense	possibly damaging	0.94
R6036:Plag1	UTSW	4	3,904,618 (GRCm39)	missense	possibly damaging	0.94
R6080:Plag1	UTSW	4	3,903,815 (GRCm39)	missense	probably benign
R6296:Plag1	UTSW	4	3,904,499 (GRCm39)	missense	probably damaging	1.00
R7038:Plag1	UTSW	4	3,904,676 (GRCm39)	missense	probably damaging	1.00
R7116:Plag1	UTSW	4	3,904,812 (GRCm39)	nonsense	probably null
R8435:Plag1	UTSW	4	3,905,648 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAACATTTCCTCTCTGCAAATCAGCTG -3'
(R):5'- TCCCAGGTGTCCAACAAGAAG -3'

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

Posted On

2016-09-01