Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Carm1'

63820

Institutional Source

Beutler Lab

Gene Symbol

Carm1

Ensembl Gene

ENSMUSG00000032185

Gene Name

coactivator-associated arginine methyltransferase 1

Synonyms

Prmt4

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0724 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

21546894-21592623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21587374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 504 (Y504C)

Ref Sequence

ENSEMBL: ENSMUSP00000111053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034700] [ENSMUST00000034703] [ENSMUST00000078572] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032] [ENSMUST00000180365] [ENSMUST00000213809]

AlphaFold

Q9WVG6

Predicted Effect

probably benign
Transcript: ENSMUST00000034700

SMART Domains

Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000034703
AA Change: Y504C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: Y504C

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 benign
Transcript: ENSMUST00000078572

SMART Domains

Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115394
AA Change: Y504C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: Y504C

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: Y504C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: Y504C

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: ENSMUST00000130100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154049

Predicted Effect

probably benign
Transcript: ENSMUST00000180365

SMART Domains

Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000216160
AA Change: Y10C

Predicted Effect

probably benign
Transcript: ENSMUST00000213809

Meta Mutation Damage Score

0.1367

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably damaging	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
R0551:Carm1	UTSW	9	21580491	splice site	probably null
R0580:Carm1	UTSW	9	21583584	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'- TATTGTGGCACAGGTGGACCAGAC -3'
(R):5'- GCAATAACACTGCTCAGGTCGTAGG -3'

Sequencing Primer
(F):5'- GGATCTAAAGAACCCCTTCTTCAGG -3'
(R):5'- CGTAGGCAGTAGGCATTCCTAAC -3'

Posted On

2013-07-30