Incidental Mutation 'IGL01401:Carm1'
ID 79658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carm1
Ensembl Gene ENSMUSG00000032185
Gene Name coactivator-associated arginine methyltransferase 1
Synonyms m9Bei, Prmt4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01401
Quality Score
Status
Chromosome 9
Chromosomal Location 21458163-21500763 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 21480878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034703] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032]
AlphaFold Q9WVG6
Predicted Effect probably null
Transcript: ENSMUST00000034703
SMART Domains Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:CARM1 27 140 2.8e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154049
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,836,516 (GRCm39) V758A possibly damaging Het
Arf4 T C 14: 26,359,609 (GRCm39) L12P probably damaging Het
Bltp1 A G 3: 36,996,441 (GRCm39) N1051S probably benign Het
C4bp A T 1: 130,575,801 (GRCm39) V230E possibly damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Ceacam16 T C 7: 19,595,054 (GRCm39) Y8C probably benign Het
Ckap2l A T 2: 129,111,136 (GRCm39) V687E probably damaging Het
Dcaf4 A G 12: 83,588,148 (GRCm39) D449G probably damaging Het
Dhx38 T C 8: 110,278,746 (GRCm39) Y1113C probably benign Het
Fry A G 5: 150,362,253 (GRCm39) I161V probably benign Het
Gm17093 A C 14: 44,758,984 (GRCm39) M169L unknown Het
Gm20721 A G 2: 174,187,295 (GRCm39) D999G probably damaging Het
Grin2b T C 6: 135,713,361 (GRCm39) H840R probably damaging Het
Hoxc12 C A 15: 102,845,755 (GRCm39) H156Q probably benign Het
Htr3b T C 9: 48,858,934 (GRCm39) D68G probably damaging Het
Inpp5b T C 4: 124,639,880 (GRCm39) V99A probably damaging Het
Klhl42 C T 6: 147,009,241 (GRCm39) T360M probably benign Het
Lmo7 C T 14: 102,031,713 (GRCm39) R36* probably null Het
Lmod3 T G 6: 97,229,513 (GRCm39) N7T probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mthfd2l T A 5: 91,148,425 (GRCm39) I284K possibly damaging Het
Myo1e T A 9: 70,234,448 (GRCm39) I267N probably damaging Het
Or13c7d T C 4: 43,770,112 (GRCm39) R300G probably damaging Het
Or2y1g T A 11: 49,171,314 (GRCm39) V113E possibly damaging Het
Prkce T C 17: 86,476,268 (GRCm39) V83A probably damaging Het
Pxdn G T 12: 30,051,983 (GRCm39) C540F probably damaging Het
Resf1 A G 6: 149,228,394 (GRCm39) E480G probably damaging Het
Ryr2 T A 13: 11,606,238 (GRCm39) E4448V possibly damaging Het
Scn1a A T 2: 66,119,455 (GRCm39) N1349K probably damaging Het
Smarcc1 T C 9: 109,979,033 (GRCm39) I172T possibly damaging Het
Syt16 T C 12: 74,269,437 (GRCm39) V92A possibly damaging Het
Tenm4 A G 7: 96,523,474 (GRCm39) Y1672C probably damaging Het
Tmem131 A G 1: 36,838,468 (GRCm39) Y1486H probably damaging Het
Tmem132a A G 19: 10,838,888 (GRCm39) probably benign Het
Usp40 A T 1: 87,921,920 (GRCm39) D314E probably damaging Het
Vmn2r79 G A 7: 86,686,481 (GRCm39) V621I probably benign Het
Wnk4 A G 11: 101,167,509 (GRCm39) probably benign Het
Wwc1 C A 11: 35,789,445 (GRCm39) probably null Het
Other mutations in Carm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-11-05