Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Carm1'

45173

Institutional Source

Beutler Lab

Gene Symbol

Carm1

Ensembl Gene

ENSMUSG00000032185

Gene Name

coactivator-associated arginine methyltransferase 1

Synonyms

Prmt4

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21546894-21592623 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 21580491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034703] [ENSMUST00000115394] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032]

AlphaFold

Q9WVG6

Predicted Effect

probably null
Transcript: ENSMUST00000034703

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2.1e-71	PFAM
Pfam:PRMT5	144	447	2.3e-16	PFAM
Pfam:MTS	166	308	2.7e-10	PFAM
Pfam:Methyltransf_9	168	318	1.1e-9	PFAM
Pfam:PrmA	173	287	2.2e-12	PFAM
Pfam:Methyltransf_31	183	325	7.4e-11	PFAM
Pfam:Methyltransf_18	185	290	5.1e-12	PFAM
Pfam:Methyltransf_26	186	287	5.3e-10	PFAM
Pfam:Methyltransf_11	190	287	8.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	562	576	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115394

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	29	140	4.7e-63	PFAM
Pfam:PRMT5	145	447	4.1e-16	PFAM
Pfam:Methyltransf_9	168	318	1.4e-9	PFAM
Pfam:MTS	170	299	2.5e-9	PFAM
Pfam:PrmA	175	287	3.7e-12	PFAM
Pfam:Methyltransf_31	183	326	1.9e-10	PFAM
Pfam:Methyltransf_18	185	290	4e-9	PFAM
Pfam:Methyltransf_11	190	287	6.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115394

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	29	140	4.7e-63	PFAM
Pfam:PRMT5	145	447	4.1e-16	PFAM
Pfam:Methyltransf_9	168	318	1.4e-9	PFAM
Pfam:MTS	170	299	2.5e-9	PFAM
Pfam:PrmA	175	287	3.7e-12	PFAM
Pfam:Methyltransf_31	183	326	1.9e-10	PFAM
Pfam:Methyltransf_18	185	290	4e-9	PFAM
Pfam:Methyltransf_11	190	287	6.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115395

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2e-71	PFAM
Pfam:PRMT5	144	447	2.1e-16	PFAM
Pfam:MTS	166	308	2.6e-10	PFAM
Pfam:Methyltransf_9	168	318	1.1e-9	PFAM
Pfam:PrmA	172	287	2.1e-12	PFAM
Pfam:Methyltransf_31	183	326	6.9e-11	PFAM
Pfam:Methyltransf_18	185	290	4.8e-12	PFAM
Pfam:Methyltransf_26	186	287	5e-10	PFAM
Pfam:Methyltransf_11	190	287	8.1e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	540	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130032

SMART Domains

Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2.8e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154049

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null fetuses are small and die perinatally, whereas heterozygotes are born at the expected Mendelian ratio but show decreased survival through weaning. Mice homozygous for a kinase null allele exhibit neonatal lethality, arrested T cell development, and impaired adipogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Carm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Carm1	APN	9	21587194	missense	possibly damaging	0.62
IGL01360:Carm1	APN	9	21587302	missense	probably benign	0.19
IGL01401:Carm1	APN	9	21569582	critical splice donor site	probably null
IGL02218:Carm1	APN	9	21569512	missense	probably damaging	1.00
IGL02436:Carm1	APN	9	21579462	missense	probably damaging	1.00
IGL02601:Carm1	APN	9	21586908	missense	probably damaging	1.00
R0580:Carm1	UTSW	9	21583584	missense	probably damaging	1.00
R0724:Carm1	UTSW	9	21587374	missense	probably damaging	1.00
R0883:Carm1	UTSW	9	21569591	splice site	probably benign
R1390:Carm1	UTSW	9	21579493	missense	probably damaging	1.00
R1713:Carm1	UTSW	9	21586489	missense	probably damaging	0.97
R1950:Carm1	UTSW	9	21574516	missense	probably benign	0.01
R1960:Carm1	UTSW	9	21580310	missense	probably benign	0.40
R2402:Carm1	UTSW	9	21583540	missense	probably damaging	1.00
R2512:Carm1	UTSW	9	21575412	critical splice acceptor site	probably null
R2520:Carm1	UTSW	9	21583597	splice site	probably null
R2939:Carm1	UTSW	9	21579396	splice site	probably null
R2940:Carm1	UTSW	9	21579396	splice site	probably null
R3081:Carm1	UTSW	9	21579396	splice site	probably null
R3407:Carm1	UTSW	9	21586182	missense	probably damaging	1.00
R3434:Carm1	UTSW	9	21569473	missense	probably damaging	1.00
R3808:Carm1	UTSW	9	21586962	missense	probably damaging	1.00
R4504:Carm1	UTSW	9	21569526	missense	probably damaging	1.00
R4700:Carm1	UTSW	9	21587184	missense	probably benign	0.12
R5019:Carm1	UTSW	9	21579511	critical splice donor site	probably null
R5362:Carm1	UTSW	9	21587359	missense	probably benign	0.03
R5661:Carm1	UTSW	9	21586999	missense	probably benign	0.10
R5730:Carm1	UTSW	9	21580340	missense	probably benign	0.37
R5913:Carm1	UTSW	9	21587552	missense	probably benign	0.01
R5928:Carm1	UTSW	9	21575302	intron	probably benign
R6370:Carm1	UTSW	9	21587519	missense	probably benign	0.11
R6431:Carm1	UTSW	9	21583077	missense	probably damaging	1.00
R6555:Carm1	UTSW	9	21586962	missense	probably damaging	1.00
R7177:Carm1	UTSW	9	21547027	missense	unknown
R7235:Carm1	UTSW	9	21587405	critical splice donor site	probably benign
R7249:Carm1	UTSW	9	21586209	missense	probably benign
R7576:Carm1	UTSW	9	21586536	critical splice donor site	probably null
R7650:Carm1	UTSW	9	21580372	missense	probably benign	0.00
R7664:Carm1	UTSW	9	21586990	missense	probably benign	0.01
R8359:Carm1	UTSW	9	21569469	missense	possibly damaging	0.51
R8683:Carm1	UTSW	9	21586168	missense	possibly damaging	0.72
R8690:Carm1	UTSW	9	21569512	missense	probably damaging	1.00
R8821:Carm1	UTSW	9	21580367	missense	probably damaging	1.00
R8831:Carm1	UTSW	9	21580367	missense	probably damaging	1.00
R8947:Carm1	UTSW	9	21586453	missense	probably damaging	1.00
R8950:Carm1	UTSW	9	21579493	missense	probably damaging	1.00
R9242:Carm1	UTSW	9	21583054	missense	probably damaging	1.00
R9399:Carm1	UTSW	9	21575495	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GTTGCCAGAATTAGGCTCCATCCC -3'
(R):5'- TGCCACATGCTTACTGTGTGTCTAC -3'

Sequencing Primer
(F):5'- TCCTACAGGTCCTGGTGAAGAG -3'
(R):5'- CTACAGTGGGTTTGTCAATGCC -3'

Posted On

2013-06-11