Mutagenetix > Incidental Mutation

Incidental Mutation 'R7087:Prmt1'

568385

Institutional Source

Beutler Lab

Gene Symbol

Prmt1

Ensembl Gene

ENSMUSG00000109324

Gene Name

protein arginine N-methyltransferase 1

Synonyms

6720434D09Rik, Hrmt1l2

MMRRC Submission

045181-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7087 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44626179-44635844 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 44631007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045325] [ENSMUST00000107843] [ENSMUST00000207370] [ENSMUST00000207522] [ENSMUST00000207659] [ENSMUST00000208312] [ENSMUST00000208829] [ENSMUST00000208938] [ENSMUST00000209124]

AlphaFold

Q9JIF0

Predicted Effect

probably null
Transcript: ENSMUST00000045325

SMART Domains

Protein: ENSMUSP00000045365
Gene: ENSMUSG00000109324

Domain	Start	End	E-Value	Type
Pfam:PRMT5	41	343	3.9e-11	PFAM
Pfam:Met_10	72	184	5.4e-7	PFAM
Pfam:MTS	78	162	7e-7	PFAM
Pfam:PrmA	79	182	8.1e-10	PFAM
Pfam:Methyltransf_31	86	226	4.1e-10	PFAM
Pfam:Methyltransf_18	88	195	3.5e-9	PFAM
Pfam:Methyltransf_26	89	189	1.4e-8	PFAM
Pfam:Methyltransf_11	93	192	3.8e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107843

SMART Domains

Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324

Domain	Start	End	E-Value	Type
Pfam:PRMT5	41	343	1.9e-8	PFAM
Pfam:MTS	78	162	1.1e-6	PFAM
Pfam:PrmA	79	181	1.3e-9	PFAM
Pfam:Methyltransf_31	86	226	4e-10	PFAM
Pfam:Methyltransf_18	88	192	6.2e-9	PFAM
Pfam:Methyltransf_11	93	192	1e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000207370

Predicted Effect

probably benign
Transcript: ENSMUST00000207522

Predicted Effect

probably null
Transcript: ENSMUST00000207659

Predicted Effect

probably null
Transcript: ENSMUST00000208312

Predicted Effect

probably benign
Transcript: ENSMUST00000208778

Predicted Effect

probably benign
Transcript: ENSMUST00000208829

Predicted Effect

probably null
Transcript: ENSMUST00000208938

Predicted Effect

probably null
Transcript: ENSMUST00000209056

Predicted Effect

probably benign
Transcript: ENSMUST00000209124

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (43/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for a null mutation die before E6.5 and exhibit abnormal embryonic tissue morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,373,870 (GRCm39)	V252D	probably damaging	Het
Adprhl1	A	G	8: 13,271,856 (GRCm39)	L1634P	probably damaging	Het
Arhgef4	A	T	1: 34,850,767 (GRCm39)	R438W	probably damaging	Het
Asb3	A	C	11: 30,948,321 (GRCm39)	K38T	probably benign	Het
Atp1a4	A	T	1: 172,074,269 (GRCm39)	L328Q	probably damaging	Het
BC030500	T	A	8: 59,365,388 (GRCm39)	I13N	unknown	Het
Cbarp	A	G	10: 79,972,242 (GRCm39)	S136P	probably damaging	Het
Ccdc18	T	A	5: 108,343,988 (GRCm39)	D910E	probably benign	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Cmya5	A	G	13: 93,227,483 (GRCm39)	V2535A	probably benign	Het
Ddx39b	C	T	17: 35,472,025 (GRCm39)	R355C	probably damaging	Het
Dock10	T	C	1: 80,570,543 (GRCm39)	T338A	probably benign	Het
Dpysl3	T	C	18: 43,496,595 (GRCm39)	D147G	probably damaging	Het
Eif3i	G	T	4: 129,486,104 (GRCm39)	H284Q	probably damaging	Het
Erbb4	A	T	1: 68,779,650 (GRCm39)	L42Q	probably null	Het
Exoc3l2	A	G	7: 19,203,582 (GRCm39)	E58G		Het
Fgf18	C	T	11: 33,074,677 (GRCm39)	R98Q	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gp2	T	A	7: 119,049,455 (GRCm39)	T361S	probably damaging	Het
Gtsf1	A	T	15: 103,333,876 (GRCm39)	H33Q	probably damaging	Het
Hoxa4	G	A	6: 52,168,271 (GRCm39)	T133M	probably damaging	Het
Hspb7	C	A	4: 141,149,866 (GRCm39)	T84K	possibly damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Kdm7a	C	T	6: 39,152,315 (GRCm39)	R127H	probably benign	Het
Lsm10	C	T	4: 125,991,952 (GRCm39)	R103C	probably damaging	Het
Mgme1	T	C	2: 144,114,101 (GRCm39)	S68P	probably damaging	Het
Nes	G	T	3: 87,887,065 (GRCm39)	V1775L	probably benign	Het
Nfrkb	C	T	9: 31,331,228 (GRCm39)	Q1250*	probably null	Het
Or4s2	T	C	2: 88,473,197 (GRCm39)	F29L	probably damaging	Het
Phf21b	A	T	15: 84,676,033 (GRCm39)	L338H	probably damaging	Het
Pira12	G	A	7: 3,900,218 (GRCm39)	A128V	probably benign	Het
Ppp2r5b	A	G	19: 6,282,580 (GRCm39)	V190A	possibly damaging	Het
Rusc1	A	G	3: 88,996,799 (GRCm39)	V639A	probably damaging	Het
Slc24a2	T	A	4: 86,909,456 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,874,880 (GRCm39)	T141A	probably damaging	Het
Spta1	A	T	1: 174,002,076 (GRCm39)	M69L	probably benign	Het
St8sia5	A	C	18: 77,342,238 (GRCm39)	Q316P	possibly damaging	Het
Svs3a	T	C	2: 164,131,717 (GRCm39)	I96T	possibly damaging	Het
Syne1	T	A	10: 5,492,024 (GRCm39)		probably benign	Het
Trappc3	T	C	4: 126,166,474 (GRCm39)	S16P	probably benign	Het
Vmn2r44	A	T	7: 8,381,366 (GRCm39)	F176I	probably benign	Het
Wnk1	C	T	6: 120,014,491 (GRCm39)	E35K	possibly damaging	Het
Zfp354c	A	G	11: 50,706,040 (GRCm39)	L345P	probably damaging	Het
Zfp608	T	A	18: 55,032,469 (GRCm39)	K490N	probably damaging	Het
Zfp687	A	C	3: 94,917,524 (GRCm39)	S709A	probably benign	Het

Other mutations in Prmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Prmt1	APN	7	44,627,059 (GRCm39)	unclassified	probably benign
IGL03195:Prmt1	APN	7	44,626,995 (GRCm39)	missense	probably damaging	0.98
R0110:Prmt1	UTSW	7	44,628,225 (GRCm39)	unclassified	probably benign
R0313:Prmt1	UTSW	7	44,628,172 (GRCm39)	missense	probably benign	0.39
R0326:Prmt1	UTSW	7	44,628,878 (GRCm39)	missense	probably damaging	1.00
R0522:Prmt1	UTSW	7	44,631,203 (GRCm39)	missense	probably benign	0.08
R0531:Prmt1	UTSW	7	44,627,048 (GRCm39)	missense	probably damaging	1.00
R0611:Prmt1	UTSW	7	44,628,225 (GRCm39)	splice site	probably null
R2002:Prmt1	UTSW	7	44,628,148 (GRCm39)	missense	probably damaging	1.00
R4712:Prmt1	UTSW	7	44,631,060 (GRCm39)	missense	probably damaging	1.00
R6032:Prmt1	UTSW	7	44,626,526 (GRCm39)	splice site	probably null
R6153:Prmt1	UTSW	7	44,631,251 (GRCm39)	missense	probably damaging	1.00
R7216:Prmt1	UTSW	7	44,632,997 (GRCm39)	missense	probably benign
R7655:Prmt1	UTSW	7	44,633,552 (GRCm39)	missense	probably benign	0.05
R7656:Prmt1	UTSW	7	44,633,552 (GRCm39)	missense	probably benign	0.05
R7747:Prmt1	UTSW	7	44,633,560 (GRCm39)	splice site	probably null
R9111:Prmt1	UTSW	7	44,631,169 (GRCm39)	missense	probably damaging	1.00
Z1177:Prmt1	UTSW	7	44,628,933 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ATTCTTGACAGGCCCTGGATG -3'
(R):5'- CGCAAGGTTATTGGGGTAAGTC -3'

Sequencing Primer
(F):5'- GGAAGCTCTAATCTTGAGCACAGTC -3'
(R):5'- TAAGTCCTACTGCAGTGGGC -3'

Posted On

2019-07-11