Incidental Mutation 'R0724:Carm1'
ID 63820
Institutional Source Beutler Lab
Gene Symbol Carm1
Ensembl Gene ENSMUSG00000032185
Gene Name coactivator-associated arginine methyltransferase 1
Synonyms m9Bei, Prmt4
MMRRC Submission 038906-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0724 (G1)
Quality Score 150
Status Validated
Chromosome 9
Chromosomal Location 21458163-21500763 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21498670 bp (GRCm39)
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] [ENSMUST00000213809] [ENSMUST00000180365]
AlphaFold Q9WVG6
Predicted Effect probably benign
Transcript: ENSMUST00000034700
SMART Domains Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182

DomainStartEndE-ValueType
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

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 benign
Transcript: ENSMUST00000078572
SMART Domains Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182

DomainStartEndE-ValueType
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

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 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

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: ENSMUST00000132011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154049
Predicted Effect unknown
Transcript: ENSMUST00000216160
AA Change: Y10C
Predicted Effect probably benign
Transcript: ENSMUST00000213809
Predicted Effect probably benign
Transcript: ENSMUST00000180365
SMART Domains Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182

DomainStartEndE-ValueType
Pfam:Yip1 84 272 1.5e-21 PFAM
Meta Mutation Damage Score 0.1367 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,981,573 (GRCm39) E136G probably benign Het
Adgre4 T A 17: 56,159,281 (GRCm39) S655R probably benign Het
Ak7 T A 12: 105,676,513 (GRCm39) V71E probably benign Het
Ank2 C T 3: 126,755,986 (GRCm39) R1077H probably damaging Het
Anxa3 A G 5: 96,976,607 (GRCm39) T198A possibly damaging Het
Atp1a1 A T 3: 101,499,755 (GRCm39) I109N possibly damaging Het
Camta1 A G 4: 151,162,349 (GRCm39) I119T probably damaging Het
Casp1 C T 9: 5,303,077 (GRCm39) P177L probably benign Het
Ccdc122 C A 14: 77,329,517 (GRCm39) probably benign Het
Ces1a A G 8: 93,766,141 (GRCm39) S158P probably damaging Het
Ces3a T A 8: 105,776,827 (GRCm39) D103E possibly damaging Het
Clstn1 A C 4: 149,728,081 (GRCm39) D583A possibly damaging Het
Corin A G 5: 72,490,138 (GRCm39) probably benign Het
Cryba1 T C 11: 77,610,283 (GRCm39) D144G probably damaging Het
Cwf19l2 G T 9: 3,421,377 (GRCm39) probably null Het
Dis3l T C 9: 64,214,408 (GRCm39) T1027A possibly damaging Het
Dop1b A G 16: 93,559,213 (GRCm39) E653G probably benign Het
Dst A G 1: 34,227,758 (GRCm39) I1459V probably benign Het
Dyrk3 T C 1: 131,057,877 (GRCm39) T64A probably benign Het
Emp2 C T 16: 10,102,479 (GRCm39) C111Y probably benign Het
Enam A G 5: 88,649,853 (GRCm39) Y454C probably damaging Het
Fbn1 A T 2: 125,193,984 (GRCm39) C1328S probably benign Het
Gata3 T C 2: 9,879,386 (GRCm39) T197A probably benign Het
Gm1043 A G 5: 37,344,573 (GRCm39) T212A probably damaging Het
H2-Eb1 T C 17: 34,534,006 (GRCm39) probably benign Het
Hand1 T C 11: 57,722,506 (GRCm39) H36R probably damaging Het
Hmgcs2 C A 3: 98,204,317 (GRCm39) Y239* probably null Het
Hoxc12 A G 15: 102,845,490 (GRCm39) Y68C probably damaging Het
Inpp5a A G 7: 139,096,579 (GRCm39) I143V probably benign Het
Klhdc2 C A 12: 69,343,822 (GRCm39) F18L probably benign Het
Kpnb1 T C 11: 97,069,130 (GRCm39) Y251C probably damaging Het
Lrch4 A T 5: 137,635,570 (GRCm39) N315I probably damaging Het
Map3k10 A C 7: 27,367,780 (GRCm39) V286G probably damaging Het
Myo7b G A 18: 32,138,602 (GRCm39) probably benign Het
Nlrp2 G T 7: 5,322,221 (GRCm39) L809I probably damaging Het
Oacyl T C 18: 65,870,896 (GRCm39) probably benign Het
Or4q3 A G 14: 50,583,374 (GRCm39) V175A possibly damaging Het
Paxbp1 T A 16: 90,833,424 (GRCm39) D270V probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pira13 T C 7: 3,819,871 (GRCm39) N564S possibly damaging Het
Plcb3 G A 19: 6,940,760 (GRCm39) R359C probably damaging Het
Plcxd3 G A 15: 4,546,350 (GRCm39) S118N probably damaging Het
Ptpn14 T C 1: 189,583,144 (GRCm39) S664P possibly damaging Het
Sirt1 T C 10: 63,159,752 (GRCm39) I443V possibly damaging Het
Slc7a8 G A 14: 54,972,643 (GRCm39) probably benign Het
Smim14 A G 5: 65,610,682 (GRCm39) probably benign Het
Sost C T 11: 101,857,744 (GRCm39) C19Y probably benign Het
Tcaf1 G T 6: 42,652,301 (GRCm39) A727E probably damaging Het
Thoc1 T C 18: 9,963,829 (GRCm39) L144P probably damaging Het
Tmem132b A T 5: 125,860,485 (GRCm39) T577S possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tshr T C 12: 91,505,060 (GRCm39) F666S probably damaging Het
Wdr1 A G 5: 38,698,205 (GRCm39) V192A possibly damaging Het
Zfp697 T C 3: 98,335,482 (GRCm39) W416R probably damaging 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
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
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
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