Mutagenetix > Incidental Mutation

Incidental Mutation 'R8821:Carm1'

673050

Institutional Source

Beutler Lab

Gene Symbol

Carm1

Ensembl Gene

ENSMUSG00000032185

Gene Name

coactivator-associated arginine methyltransferase 1

Synonyms

m9Bei, Prmt4

MMRRC Submission

068654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21458163-21500763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21491663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 244 (E244G)

Ref Sequence

ENSEMBL: ENSMUSP00000034703 (fasta)

Gene Model

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

AlphaFold

Q9WVG6

PDB Structure

CRYSTAL STRUCTURE OF COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1 (CARM1), IN COMPLEX WITH S-ADENOSYL-HOMOCYSTEINE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1 (CARM1), UNLIGANDED [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034703
AA Change: E244G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: E244G

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 damaging
Transcript: ENSMUST00000115394
AA Change: E244G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: E244G

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 damaging
Transcript: ENSMUST00000115395
AA Change: E244G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: E244G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abca8a	A	T	11: 109,949,362 (GRCm39)	I927K	probably damaging	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Alyref	CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG	CCCGCG	11: 120,489,023 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Btbd18	A	G	2: 84,497,601 (GRCm39)	D413G	probably damaging	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Castor2	T	A	5: 134,164,092 (GRCm39)	V96E	possibly damaging	Het
Catsperg1	A	T	7: 28,904,361 (GRCm39)		probably benign	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Ckmt1	G	A	2: 121,191,302 (GRCm39)		probably benign	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Col27a1	A	G	4: 63,143,148 (GRCm39)	T279A	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cpne5	T	C	17: 29,430,668 (GRCm39)	I81V	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Dcstamp	A	G	15: 39,618,185 (GRCm39)	H198R	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Dnah1	C	T	14: 31,018,455 (GRCm39)	A1392T	probably benign	Het
Dnah14	C	A	1: 181,619,569 (GRCm39)	Y3964*	probably null	Het
Dnah8	T	C	17: 31,013,712 (GRCm39)	S3818P	probably damaging	Het
Dnmt3b	T	A	2: 153,518,734 (GRCm39)	N632K	probably benign	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Dtd1	T	C	2: 144,459,261 (GRCm39)	L95P	probably benign	Het
Efhb	A	T	17: 53,707,772 (GRCm39)		probably benign	Het
Fam186b	T	A	15: 99,178,733 (GRCm39)	M198L	possibly damaging	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fan1	G	A	7: 64,004,249 (GRCm39)	P739L	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gm9195	C	T	14: 72,717,536 (GRCm39)	E266K	possibly damaging	Het
Hdac1-ps	T	A	17: 78,799,969 (GRCm39)	L320Q	probably damaging	Het
Helz	A	T	11: 107,525,919 (GRCm39)	M825L	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kcnrg	T	C	14: 61,844,981 (GRCm39)	V7A	possibly damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Lima1	T	A	15: 99,704,306 (GRCm39)	T288S	probably benign	Het
Lrrc37	A	T	11: 103,510,470 (GRCm39)	D499E	unknown	Het
Lrrc4c	A	T	2: 97,460,040 (GRCm39)	D222V	possibly damaging	Het
Mybpc3	T	A	2: 90,948,524 (GRCm39)	V4E	probably null	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Nell1	A	G	7: 50,476,097 (GRCm39)	S579G	probably damaging	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or2at4	A	G	7: 99,384,893 (GRCm39)	H181R	possibly damaging	Het
Or4a73	A	G	2: 89,420,880 (GRCm39)	I193T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Pih1d1	A	G	7: 44,806,196 (GRCm39)	D44G	possibly damaging	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Sp7	T	A	15: 102,267,227 (GRCm39)	H211L	possibly damaging	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem232	A	G	17: 65,743,367 (GRCm39)	L308P	probably damaging	Het
Tulp4	A	G	17: 6,189,409 (GRCm39)	N77S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zfp512b	T	C	2: 181,228,525 (GRCm39)	N738S	probably benign	Het

Other mutations in Carm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Carm1	APN	9	21,498,490 (GRCm39)	missense	possibly damaging	0.62
IGL01360:Carm1	APN	9	21,498,598 (GRCm39)	missense	probably benign	0.19
IGL01401:Carm1	APN	9	21,480,878 (GRCm39)	critical splice donor site	probably null
IGL02218:Carm1	APN	9	21,480,808 (GRCm39)	missense	probably damaging	1.00
IGL02436:Carm1	APN	9	21,490,758 (GRCm39)	missense	probably damaging	1.00
IGL02601:Carm1	APN	9	21,498,204 (GRCm39)	missense	probably damaging	1.00
R0551:Carm1	UTSW	9	21,491,787 (GRCm39)	splice site	probably null
R0580:Carm1	UTSW	9	21,494,880 (GRCm39)	missense	probably damaging	1.00
R0724:Carm1	UTSW	9	21,498,670 (GRCm39)	missense	probably damaging	1.00
R0883:Carm1	UTSW	9	21,480,887 (GRCm39)	splice site	probably benign
R1390:Carm1	UTSW	9	21,490,789 (GRCm39)	missense	probably damaging	1.00
R1713:Carm1	UTSW	9	21,497,785 (GRCm39)	missense	probably damaging	0.97
R1950:Carm1	UTSW	9	21,485,812 (GRCm39)	missense	probably benign	0.01
R1960:Carm1	UTSW	9	21,491,606 (GRCm39)	missense	probably benign	0.40
R2402:Carm1	UTSW	9	21,494,836 (GRCm39)	missense	probably damaging	1.00
R2512:Carm1	UTSW	9	21,486,708 (GRCm39)	critical splice acceptor site	probably null
R2520:Carm1	UTSW	9	21,494,893 (GRCm39)	splice site	probably null
R2939:Carm1	UTSW	9	21,490,692 (GRCm39)	splice site	probably null
R2940:Carm1	UTSW	9	21,490,692 (GRCm39)	splice site	probably null
R3081:Carm1	UTSW	9	21,490,692 (GRCm39)	splice site	probably null
R3407:Carm1	UTSW	9	21,497,478 (GRCm39)	missense	probably damaging	1.00
R3434:Carm1	UTSW	9	21,480,769 (GRCm39)	missense	probably damaging	1.00
R3808:Carm1	UTSW	9	21,498,258 (GRCm39)	missense	probably damaging	1.00
R4504:Carm1	UTSW	9	21,480,822 (GRCm39)	missense	probably damaging	1.00
R4700:Carm1	UTSW	9	21,498,480 (GRCm39)	missense	probably benign	0.12
R5019:Carm1	UTSW	9	21,490,807 (GRCm39)	critical splice donor site	probably null
R5362:Carm1	UTSW	9	21,498,655 (GRCm39)	missense	probably benign	0.03
R5661:Carm1	UTSW	9	21,498,295 (GRCm39)	missense	probably benign	0.10
R5730:Carm1	UTSW	9	21,491,636 (GRCm39)	missense	probably benign	0.37
R5913:Carm1	UTSW	9	21,498,848 (GRCm39)	missense	probably benign	0.01
R5928:Carm1	UTSW	9	21,486,598 (GRCm39)	intron	probably benign
R6370:Carm1	UTSW	9	21,498,815 (GRCm39)	missense	probably benign	0.11
R6431:Carm1	UTSW	9	21,494,373 (GRCm39)	missense	probably damaging	1.00
R6555:Carm1	UTSW	9	21,498,258 (GRCm39)	missense	probably damaging	1.00
R7177:Carm1	UTSW	9	21,458,323 (GRCm39)	missense	unknown
R7235:Carm1	UTSW	9	21,498,701 (GRCm39)	critical splice donor site	probably benign
R7249:Carm1	UTSW	9	21,497,505 (GRCm39)	missense	probably benign
R7576:Carm1	UTSW	9	21,497,832 (GRCm39)	critical splice donor site	probably null
R7650:Carm1	UTSW	9	21,491,668 (GRCm39)	missense	probably benign	0.00
R7664:Carm1	UTSW	9	21,498,286 (GRCm39)	missense	probably benign	0.01
R8359:Carm1	UTSW	9	21,480,765 (GRCm39)	missense	possibly damaging	0.51
R8683:Carm1	UTSW	9	21,497,464 (GRCm39)	missense	possibly damaging	0.72
R8690:Carm1	UTSW	9	21,480,808 (GRCm39)	missense	probably damaging	1.00
R8831:Carm1	UTSW	9	21,491,663 (GRCm39)	missense	probably damaging	1.00
R8947:Carm1	UTSW	9	21,497,749 (GRCm39)	missense	probably damaging	1.00
R8950:Carm1	UTSW	9	21,490,789 (GRCm39)	missense	probably damaging	1.00
R9242:Carm1	UTSW	9	21,494,350 (GRCm39)	missense	probably damaging	1.00
R9399:Carm1	UTSW	9	21,486,791 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AACATGTCAGCCCCTTGGAC -3'
(R):5'- GGTTCAAAGTCTTACTTCCACTG -3'

Sequencing Primer
(F):5'- GGACACATGTCACTTCTACTAGG -3'
(R):5'- CACTGTTCGATGCTCCTGAG -3'

Posted On

2021-04-30