Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Carm1'

190783

Institutional Source

Beutler Lab

Gene Symbol

Carm1

Ensembl Gene

ENSMUSG00000032185

Gene Name

coactivator-associated arginine methyltransferase 1

Synonyms

m9Bei, Prmt4

MMRRC Submission

039746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1713 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

21458163-21500763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21497785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 385 (V385A)

Ref Sequence

ENSEMBL: ENSMUSP00000111052 (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

possibly damaging
Transcript: ENSMUST00000034703
AA Change: V385A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: V385A

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

probably damaging
Transcript: ENSMUST00000115394
AA Change: V385A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: V385A

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

possibly damaging
Transcript: ENSMUST00000115395
AA Change: V385A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: V385A

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

probably benign
Transcript: ENSMUST00000216160

Predicted Effect

probably benign
Transcript: ENSMUST00000213809

Meta Mutation Damage Score

0.6937

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,964 (GRCm39)	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,159,916 (GRCm39)	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,370,473 (GRCm39)	F44L	probably benign	Het
Ahnak	G	A	19: 8,989,173 (GRCm39)	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,089,345 (GRCm39)		probably null	Het
Anks6	T	A	4: 47,039,726 (GRCm39)	Q495L	probably benign	Het
Arpp21	A	G	9: 111,896,237 (GRCm39)	S684P	probably damaging	Het
Ash1l	A	G	3: 88,983,531 (GRCm39)	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,113,248 (GRCm39)	E70K	probably damaging	Het
Btbd17	G	T	11: 114,686,650 (GRCm39)	P9T	probably benign	Het
C4b	A	G	17: 34,948,245 (GRCm39)		probably benign	Het
Casd1	A	G	6: 4,624,104 (GRCm39)	D299G	probably damaging	Het
Clca3a1	T	A	3: 144,730,307 (GRCm39)	K179N	probably benign	Het
Col1a2	T	C	6: 4,538,691 (GRCm39)	S1204P	unknown	Het
Col24a1	C	T	3: 145,072,624 (GRCm39)	Q780*	probably null	Het
Cxadr	C	A	16: 78,131,133 (GRCm39)	N216K	probably damaging	Het
Daam1	C	T	12: 71,942,656 (GRCm39)	T40I	unknown	Het
Dab2	C	T	15: 6,459,182 (GRCm39)	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,001,139 (GRCm39)	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,663,988 (GRCm39)	S1954R	possibly damaging	Het
Dync2h1	T	C	9: 7,131,891 (GRCm39)	T1639A	probably benign	Het
Ebf1	A	T	11: 44,815,393 (GRCm39)	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,482,881 (GRCm39)	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,171,906 (GRCm39)	I110T	probably benign	Het
Galk2	A	G	2: 125,773,210 (GRCm39)	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448 (GRCm39)	T806A	probably benign	Het
Impg2	A	G	16: 56,080,889 (GRCm39)	T789A	probably benign	Het
Itga6	A	G	2: 71,617,546 (GRCm39)	T22A	probably benign	Het
Itgb4	T	A	11: 115,894,315 (GRCm39)	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,216,721 (GRCm39)	D160G	probably benign	Het
Kdr	A	G	5: 76,129,127 (GRCm39)	V173A	probably benign	Het
Kif14	T	C	1: 136,455,202 (GRCm39)	S1575P	probably benign	Het
Lcp1	G	A	14: 75,436,884 (GRCm39)		probably null	Het
Lipe	C	A	7: 25,084,750 (GRCm39)	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,272,487 (GRCm39)	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,468,458 (GRCm39)	E1012K	probably benign	Het
Map3k5	T	C	10: 19,986,593 (GRCm39)	F936L	possibly damaging	Het
Mllt3	A	T	4: 87,701,901 (GRCm39)	N497K	probably damaging	Het
Moxd1	G	A	10: 24,157,394 (GRCm39)	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,985 (GRCm39)	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,522,972 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,886 (GRCm39)	V109A	possibly damaging	Het
Obscn	T	C	11: 58,970,712 (GRCm39)	D2540G	probably damaging	Het
Omg	T	C	11: 79,393,679 (GRCm39)	I60V	probably benign	Het
Or10q12	A	T	19: 13,746,659 (GRCm39)	T318S	probably benign	Het
Or12e9	A	T	2: 87,202,290 (GRCm39)	Y138F	probably damaging	Het
Osbpl5	G	A	7: 143,248,110 (GRCm39)	H652Y	probably damaging	Het
Parvb	T	C	15: 84,182,192 (GRCm39)		probably benign	Het
Pcdhb3	A	C	18: 37,436,375 (GRCm39)	E780D	probably benign	Het
Pik3c3	A	G	18: 30,456,639 (GRCm39)	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,612,958 (GRCm39)	V3172A	probably benign	Het
Psme4	G	T	11: 30,756,310 (GRCm39)	W272L	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rhobtb1	A	C	10: 69,108,601 (GRCm39)	S434R	probably benign	Het
Rhobtb1	G	C	10: 69,108,602 (GRCm39)	S434T	possibly damaging	Het
Rnf8	T	C	17: 29,853,735 (GRCm39)	F413S	probably damaging	Het
Rpn2	A	G	2: 157,156,888 (GRCm39)	N497S	probably damaging	Het
Rsbn1l	G	T	5: 21,156,488 (GRCm39)	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,083,164 (GRCm39)	M246K	probably benign	Het
Sgsm2	T	C	11: 74,787,652 (GRCm39)	E19G	probably null	Het
Shank1	A	G	7: 43,969,161 (GRCm39)	H352R	unknown	Het
Slc17a7	A	G	7: 44,819,728 (GRCm39)	I177V	probably benign	Het
Slc28a2	T	A	2: 122,281,494 (GRCm39)	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc38a1	T	C	15: 96,476,641 (GRCm39)	I407V	probably damaging	Het
Slc39a13	A	G	2: 90,893,442 (GRCm39)	V326A	probably damaging	Het
Slc44a5	T	C	3: 153,944,743 (GRCm39)	L120P	probably damaging	Het
Slfn3	T	C	11: 83,104,140 (GRCm39)	I214T	probably damaging	Het
Slitrk3	A	C	3: 72,957,024 (GRCm39)	S583A	probably benign	Het
Snx14	T	C	9: 88,297,728 (GRCm39)	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,907,538 (GRCm39)	K1483I	probably benign	Het
Ssrp1	C	A	2: 84,871,104 (GRCm39)	H247N	probably damaging	Het
Stk39	A	T	2: 68,137,460 (GRCm39)		probably benign	Het
Syde1	C	T	10: 78,421,530 (GRCm39)	G674R	probably damaging	Het
Tent4a	A	T	13: 69,651,170 (GRCm39)	I565N	probably benign	Het
Themis3	G	A	17: 66,862,848 (GRCm39)	S370L	probably benign	Het
Tll1	T	A	8: 64,554,907 (GRCm39)	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,661,175 (GRCm39)		probably benign	Het
Top2b	T	C	14: 16,409,823 (GRCm38)	V830A	probably benign	Het
Trpm8	T	A	1: 88,292,802 (GRCm39)	N934K	probably damaging	Het
Ttc14	A	G	3: 33,857,069 (GRCm39)	Y179C	probably damaging	Het
Ttn	T	G	2: 76,573,965 (GRCm39)	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,086,871 (GRCm39)	V52A	probably benign	Het
Vamp8	T	A	6: 72,365,270 (GRCm39)	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,306,288 (GRCm39)	H230L	probably benign	Het
Vmn2r50	T	G	7: 9,771,731 (GRCm39)	T657P	probably damaging	Het
Xirp2	G	A	2: 67,342,762 (GRCm39)	G1668R	probably benign	Het
Zik1	C	A	7: 10,224,311 (GRCm39)	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,220,501 (GRCm39)	Y99D	probably damaging	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
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
R8821:Carm1	UTSW	9	21,491,663 (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'- GCGATTTGCACAGGTAGCCTTCATC -3'
(R):5'- TGCTGGGGAAATGACAACCACAC -3'

Sequencing Primer
(F):5'- ACAGTCGTGTGCTGTCAAC -3'
(R):5'- GAAATGACAACCACACCCCTC -3'

Posted On

2014-05-14