Mutagenetix > Incidental Mutation

Incidental Mutation 'R0029:Prmt6'

44559

Institutional Source

Beutler Lab

Gene Symbol

Prmt6

Ensembl Gene

ENSMUSG00000049300

Gene Name

protein arginine N-methyltransferase 6

Synonyms

Hrmt1l6

MMRRC Submission

038323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110153425-110158314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110157214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 358 (I358M)

Ref Sequence

ENSEMBL: ENSMUSP00000140836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106567] [ENSMUST00000168412] [ENSMUST00000190378]

AlphaFold

Q6NZB1

Predicted Effect

probably benign
Transcript: ENSMUST00000106567
AA Change: I358M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102177
Gene: ENSMUSG00000049300
AA Change: I358M

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
Pfam:PRMT5	42	347	5.3e-9	PFAM
Pfam:Met_10	50	206	6.7e-8	PFAM
Pfam:Methyltransf_9	57	218	2.6e-8	PFAM
Pfam:PrmA	70	187	1.6e-10	PFAM
Pfam:MTS	75	189	8.8e-7	PFAM
Pfam:Methyltransf_18	85	191	1.8e-8	PFAM
Pfam:Methyltransf_11	90	188	6.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168412
AA Change: I358M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129801
Gene: ENSMUSG00000049300
AA Change: I358M

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
Pfam:PRMT5	42	347	1.3e-10	PFAM
Pfam:Met_10	51	184	1.2e-7	PFAM
Pfam:Methyltransf_9	57	218	2.6e-8	PFAM
Pfam:PrmA	70	187	1.4e-10	PFAM
Pfam:MTS	75	194	5.8e-8	PFAM
Pfam:Methyltransf_18	85	192	4.2e-13	PFAM
Pfam:Methyltransf_26	86	191	6e-10	PFAM
Pfam:Methyltransf_11	90	188	5.9e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190378
AA Change: I358M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140836
Gene: ENSMUSG00000049300
AA Change: I358M

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
Pfam:PRMT5	42	347	1.3e-10	PFAM
Pfam:Met_10	51	184	1.2e-7	PFAM
Pfam:Methyltransf_9	57	218	2.6e-8	PFAM
Pfam:PrmA	70	187	1.4e-10	PFAM
Pfam:MTS	75	194	5.8e-8	PFAM
Pfam:Methyltransf_18	85	192	4.2e-13	PFAM
Pfam:Methyltransf_26	86	191	6e-10	PFAM
Pfam:Methyltransf_11	90	188	5.9e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197569

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

94% (48/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mouse embryonic fibroblast proliferation and early cellular replicative senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,225 (GRCm39)	F434L	probably benign	Het
Abt1	A	T	13: 23,606,678 (GRCm39)	F141Y	possibly damaging	Het
Anapc15-ps	A	G	10: 95,508,857 (GRCm39)	I141T	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Ccn4	C	T	15: 66,784,713 (GRCm39)	R129C	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cpa4	A	G	6: 30,585,044 (GRCm39)	Y276C	probably damaging	Het
Cpt1a	A	G	19: 3,431,674 (GRCm39)	D698G	probably benign	Het
Crebbp	T	C	16: 3,935,307 (GRCm39)	T861A	probably damaging	Het
Dpy19l2	T	A	9: 24,469,397 (GRCm39)	D753V	probably damaging	Het
Exosc7	A	T	9: 122,948,302 (GRCm39)		probably benign	Het
Fbxw28	T	A	9: 109,157,357 (GRCm39)	D244V	probably damaging	Het
Fgd5	A	G	6: 92,044,539 (GRCm39)	D1260G	probably benign	Het
Gapvd1	T	A	2: 34,568,153 (GRCm39)	I1404F	probably damaging	Het
Gas7	A	G	11: 67,534,163 (GRCm39)	S88G	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Il23r	A	C	6: 67,455,929 (GRCm39)		probably null	Het
Impg1	T	C	9: 80,305,653 (GRCm39)	D138G	probably damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Kirrel2	A	G	7: 30,152,590 (GRCm39)		probably benign	Het
Lipm	T	C	19: 34,093,948 (GRCm39)		probably benign	Het
Lrpap1	T	C	5: 35,255,021 (GRCm39)	N205S	possibly damaging	Het
Mboat4	T	G	8: 34,587,363 (GRCm39)	F87V	probably damaging	Het
Nadsyn1	G	C	7: 143,359,815 (GRCm39)	Q386E	probably benign	Het
Nell1	G	A	7: 49,770,463 (GRCm39)		probably benign	Het
Or5ac25	T	C	16: 59,181,904 (GRCm39)	R226G	probably benign	Het
Or8g35	T	A	9: 39,381,956 (GRCm39)	E22V	probably benign	Het
Pard3	G	T	8: 128,153,239 (GRCm39)		probably benign	Het
Per2	C	A	1: 91,351,434 (GRCm39)	R1024L	possibly damaging	Het
Phf11c	T	C	14: 59,622,364 (GRCm39)	D216G	probably benign	Het
Polk	G	A	13: 96,653,178 (GRCm39)	T74I	probably damaging	Het
Psmb7	T	A	2: 38,523,919 (GRCm39)	H152L	probably damaging	Het
Ralgps1	A	T	2: 33,031,031 (GRCm39)	D498E	probably benign	Het
Slc26a2	G	A	18: 61,335,382 (GRCm39)	P24S	possibly damaging	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Spmip11	T	C	15: 98,483,190 (GRCm39)		probably null	Het
Stk38	T	C	17: 29,201,112 (GRCm39)	E188G	probably benign	Het
Sulf2	T	C	2: 165,958,893 (GRCm39)	N105S	possibly damaging	Het
Sult2a3	T	A	7: 13,806,999 (GRCm39)	M228L	probably benign	Het
Svil	C	A	18: 5,063,286 (GRCm39)	D852E	probably benign	Het
Tcaf2	A	T	6: 42,607,093 (GRCm39)	L287*	probably null	Het
Tmem132e	A	T	11: 82,335,587 (GRCm39)	I890F	probably damaging	Het
Tmem63a	A	G	1: 180,790,031 (GRCm39)	Y401C	probably benign	Het
Ttn	T	C	2: 76,596,850 (GRCm39)	E20021G	probably damaging	Het
Ubac1	G	T	2: 25,911,455 (GRCm39)	T31N	probably benign	Het
Usp29	T	C	7: 6,964,580 (GRCm39)	L141P	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het
Vmn1r204	A	G	13: 22,740,588 (GRCm39)	Y73C	probably benign	Het
Vmn2r2	T	C	3: 64,024,365 (GRCm39)	I739V	probably benign	Het

Other mutations in Prmt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0928:Prmt6	UTSW	3	110,157,998 (GRCm39)	missense	probably damaging	1.00
R1672:Prmt6	UTSW	3	110,157,887 (GRCm39)	missense	possibly damaging	0.79
R1748:Prmt6	UTSW	3	110,157,683 (GRCm39)	missense	probably benign
R3765:Prmt6	UTSW	3	110,157,510 (GRCm39)	nonsense	probably null
R3835:Prmt6	UTSW	3	110,158,121 (GRCm39)	missense	possibly damaging	0.75
R4027:Prmt6	UTSW	3	110,157,257 (GRCm39)	missense	probably damaging	0.99
R6236:Prmt6	UTSW	3	110,157,214 (GRCm39)	missense	probably benign	0.16
R7164:Prmt6	UTSW	3	110,157,680 (GRCm39)	missense	probably benign
R7658:Prmt6	UTSW	3	110,157,701 (GRCm39)	missense	possibly damaging	0.51
R7821:Prmt6	UTSW	3	110,158,303 (GRCm39)	start gained	probably benign
R8178:Prmt6	UTSW	3	110,158,140 (GRCm39)	missense	probably damaging	1.00
R8546:Prmt6	UTSW	3	110,158,034 (GRCm39)	missense	possibly damaging	0.67
R8927:Prmt6	UTSW	3	110,158,248 (GRCm39)	missense	probably benign
R8928:Prmt6	UTSW	3	110,158,248 (GRCm39)	missense	probably benign
R9015:Prmt6	UTSW	3	110,157,214 (GRCm39)	missense	probably benign	0.16
R9755:Prmt6	UTSW	3	110,157,359 (GRCm39)	missense	probably damaging	1.00
Z1176:Prmt6	UTSW	3	110,157,446 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GCCCGTTAGTAAGCACACTGCATC -3'
(R):5'- GCCGTCTGGTTTCAAGTGACCTTTC -3'

Sequencing Primer
(F):5'- TGCCAGAAGAATGTCCTCAAATG -3'
(R):5'- TTTCCCGGAGGGGACTC -3'

Posted On

2013-06-11