Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Prmt1'

49157

Institutional Source

Beutler Lab

Gene Symbol

Prmt1

Ensembl Gene

ENSMUSG00000109324

Gene Name

protein arginine N-methyltransferase 1

Synonyms

6720434D09Rik, Hrmt1l2

MMRRC Submission

038723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44626179-44635844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44627048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 304 (S304R)

Ref Sequence

ENSEMBL: ENSMUSP00000103474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045325] [ENSMUST00000063761] [ENSMUST00000107843] [ENSMUST00000207370] [ENSMUST00000207522] [ENSMUST00000207659] [ENSMUST00000208829] [ENSMUST00000209124] [ENSMUST00000211862] [ENSMUST00000208938] [ENSMUST00000212836] [ENSMUST00000212255] [ENSMUST00000208312]

AlphaFold

Q9JIF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045325
AA Change: S251R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045365
Gene: ENSMUSG00000109324
AA Change: S251R

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 benign
Transcript: ENSMUST00000063761

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.3e-21	PFAM
transmembrane domain	104	126	N/A	INTRINSIC
Pfam:Carn_acyltransf	171	757	7.7e-167	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107843
AA Change: S304R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324
AA Change: S304R

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

possibly damaging
Transcript: ENSMUST00000207370
AA Change: S286R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207515

Predicted Effect

probably benign
Transcript: ENSMUST00000207522

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207659
AA Change: S187R

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208829
AA Change: S55R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209124
AA Change: S141R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000208778
AA Change: S152R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207735

Predicted Effect

probably benign
Transcript: ENSMUST00000211862

Predicted Effect

probably benign
Transcript: ENSMUST00000208938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207702

Predicted Effect

probably benign
Transcript: ENSMUST00000209056

Predicted Effect

probably benign
Transcript: ENSMUST00000212836

Predicted Effect

probably benign
Transcript: ENSMUST00000212255

Predicted Effect

probably benign
Transcript: ENSMUST00000208312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209089

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Bcar3	T	C	3: 122,220,148 (GRCm39)	V15A	probably benign	Het
Best3	T	C	10: 116,840,280 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,974,781 (GRCm39)	Y404C	probably damaging	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
Gtpbp1	G	A	15: 79,604,292 (GRCm39)	G667S	probably damaging	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or6z5	A	T	7: 6,477,234 (GRCm39)	I42F	possibly damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sag	T	C	1: 87,762,351 (GRCm39)		probably null	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	possibly damaging	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
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
R7087:Prmt1	UTSW	7	44,631,007 (GRCm39)	splice site	probably null
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'- ACCCAAGCTGGCACTGTTCAACTC -3'
(R):5'- ACTGAAGAACTGTTCCACCAGGCTC -3'

Sequencing Primer
(F):5'- TGTTCAACTCTACCCAGAACCTG -3'
(R):5'- ACCAGGCTCTGCTGTCAG -3'

Posted On

2013-06-12