Mutagenetix > Incidental Mutations

Incidental Mutation 'R3434:Carm1'

266350

Institutional Source

Beutler Lab

Gene Symbol

Carm1

Ensembl Gene

ENSMUSG00000032185

Gene Name

coactivator-associated arginine methyltransferase 1

Synonyms

Prmt4

MMRRC Submission

040652-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21546894-21592623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21569473 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 81 (F81S)

Ref Sequence

ENSEMBL: ENSMUSP00000117243 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034703
AA Change: F81S

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: F81S

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: ENSMUST00000115394
AA Change: F81S

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: F81S

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 benign
Transcript: ENSMUST00000115395
AA Change: F81S

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: F81S

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 damaging
Transcript: ENSMUST00000130032
AA Change: F81S

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

SMART Domains

Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185
AA Change: F81S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154049

Meta Mutation Damage Score

0.3975

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,289,537	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576	I268V	probably benign	Het
Ccnjl	A	G	11: 43,579,861	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761		probably benign	Het
Clstn2	T	A	9: 97,454,715	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865	N533D	probably benign	Het
Fam47e	T	A	5: 92,585,362	V152D	probably damaging	Het
Fasn	G	A	11: 120,822,773	A24V	probably damaging	Het
Fhl4	T	C	10: 85,098,444	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852		probably null	Het
Lhx4	A	G	1: 155,702,401	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726		probably null	Het
Mrps23	A	G	11: 88,210,114	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116		probably null	Het
Notch3	A	T	17: 32,158,618	D161E	possibly damaging	Het
Olfr1131	T	C	2: 87,629,074	F204L	probably benign	Het
Olfr1200	T	C	2: 88,768,069	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065	I402T	probably damaging	Het
Rpgr	A	G	X: 10,176,602	S656P	probably benign	Het
Rsbn1l	T	C	5: 20,905,930		probably benign	Het
Sacs	A	G	14: 61,212,303	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094		probably null	Het
Tmem117	T	C	15: 95,094,692	I411T	probably damaging	Het
Ttn	T	C	2: 76,868,377	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381		probably null	Het
Ush2a	C	T	1: 188,733,758	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108		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
R0551:Carm1	UTSW	9	21580491	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TACTAGAGAGACATAGGCTGACAT -3'
(R):5'- GCATTGGGAATATGCAAGTGC -3'

Sequencing Primer
(F):5'- TAGCACTTCAAAGTTGTTATGAGGC -3'
(R):5'- TGATGAAGGACTGTCTGC -3'

Posted On

2015-02-18