Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03195:Prmt1'

412789

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prmt1

Ensembl Gene

ENSMUSG00000109324

Gene Name

protein arginine N-methyltransferase 1

Synonyms

6720434D09Rik, Hrmt1l2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

44626179-44635844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44626995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 205 (Y205C)

Ref Sequence

ENSEMBL: ENSMUSP00000147101 (fasta)

Gene Model

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

AlphaFold

Q9JIF0

Predicted Effect

probably benign
Transcript: ENSMUST00000045325
AA Change: Y269C

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045365
Gene: ENSMUSG00000109324
AA Change: Y269C

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 benign
Transcript: ENSMUST00000107843
AA Change: Y322C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324
AA Change: Y322C

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 benign
Transcript: ENSMUST00000207370
AA Change: Y304C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207515

Predicted Effect

probably benign
Transcript: ENSMUST00000207522

Predicted Effect

probably damaging
Transcript: ENSMUST00000207659
AA Change: Y205C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000208829
AA Change: Y73C

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000209124
AA Change: Y159C

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

unknown
Transcript: ENSMUST00000208778
AA Change: Y170C

Predicted Effect

probably benign
Transcript: ENSMUST00000211862

Predicted Effect

probably benign
Transcript: ENSMUST00000212836

Predicted Effect

probably benign
Transcript: ENSMUST00000212255

Predicted Effect

probably benign
Transcript: ENSMUST00000208938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207735

Predicted Effect

probably benign
Transcript: ENSMUST00000209056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207702

Predicted Effect

probably benign
Transcript: ENSMUST00000208312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209089

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,903,607 (GRCm39)	D1086G	possibly damaging	Het
Ahcyl2	T	C	6: 29,906,768 (GRCm39)		probably benign	Het
Ankrd42	T	A	7: 92,241,066 (GRCm39)	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766 (GRCm39)	F592I	probably damaging	Het
Arhgef28	A	G	13: 98,088,071 (GRCm39)		probably null	Het
Boc	A	G	16: 44,313,184 (GRCm39)	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,545,916 (GRCm39)	V96E	probably benign	Het
Cep162	C	T	9: 87,107,839 (GRCm39)	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,085,178 (GRCm39)	N372S	probably benign	Het
Dnah7a	G	A	1: 53,458,766 (GRCm39)	R3791C	probably damaging	Het
Fdxr	T	C	11: 115,166,918 (GRCm39)	Q57R	probably benign	Het
Fsip2l	T	A	X: 47,961,825 (GRCm39)	Q296L	possibly damaging	Het
G3bp2	A	G	5: 92,216,367 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,678,660 (GRCm39)	T487I	probably benign	Het
Kpna7	A	T	5: 144,933,847 (GRCm39)	I282N	probably damaging	Het
Lif	A	T	11: 4,219,201 (GRCm39)	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,361,134 (GRCm39)	D556E	possibly damaging	Het
Myom2	G	T	8: 15,161,844 (GRCm39)	E954*	probably null	Het
Nr6a1	A	T	2: 38,632,948 (GRCm39)	I171N	probably damaging	Het
Nup210	C	A	6: 90,992,832 (GRCm39)	R1059L	probably benign	Het
Or11g27	A	G	14: 50,770,877 (GRCm39)	T3A	probably benign	Het
Or2ag16	A	G	7: 106,351,980 (GRCm39)	I205T	probably benign	Het
Or2w25	G	A	11: 59,504,629 (GRCm39)	V280M	probably damaging	Het
Or5ak4	A	T	2: 85,161,864 (GRCm39)	I126N	probably damaging	Het
Or5aq6	A	T	2: 86,922,913 (GRCm39)	V276E	probably damaging	Het
Ostm1	T	C	10: 42,574,213 (GRCm39)	V302A	probably damaging	Het
Oxct1	A	G	15: 4,130,671 (GRCm39)	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,152,758 (GRCm39)	V300I	possibly damaging	Het
Slc45a4	A	C	15: 73,456,272 (GRCm39)	V636G	possibly damaging	Het
Spata18	T	A	5: 73,828,591 (GRCm39)	L270Q	probably damaging	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,556,646 (GRCm39)	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,294,896 (GRCm39)	V406M	probably benign	Het
Trpc5	T	A	X: 143,165,724 (GRCm39)	M900L	probably benign	Het
Ttc9c	T	C	19: 8,793,344 (GRCm39)	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,491,007 (GRCm39)	E275G	probably 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
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
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

Posted On

2016-08-02