Incidental Mutation 'IGL02218:Carm1'
ID284973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carm1
Ensembl Gene ENSMUSG00000032185
Gene Namecoactivator-associated arginine methyltransferase 1
SynonymsPrmt4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02218
Quality Score
Status
Chromosome9
Chromosomal Location21546894-21592623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21569512 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000117243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034703] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034703
AA Change: V94A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: V94A

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 possibly damaging
Transcript: ENSMUST00000115394
AA Change: V94A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: V94A

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 possibly damaging
Transcript: ENSMUST00000115395
AA Change: V94A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: V94A

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 damaging
Transcript: ENSMUST00000130032
AA Change: V94A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185
AA Change: V94A

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,612,045 D122G probably benign Het
Abcc8 T C 7: 46,120,436 D885G probably benign Het
Abcf1 T C 17: 35,958,338 K676R probably benign Het
Acsf2 A G 11: 94,601,763 V3A probably benign Het
Apba2 C T 7: 64,695,677 T205I probably benign Het
Bricd5 C A 17: 24,475,322 Y171* probably null Het
Camk2d T G 3: 126,840,153 N441K probably benign Het
Chd3 C T 11: 69,352,094 probably benign Het
Cipc A G 12: 86,961,928 N166S probably damaging Het
Cln5 A C 14: 103,075,840 probably null Het
Cnbd1 C A 4: 18,887,739 Q258H probably benign Het
Cyp8b1 A G 9: 121,915,117 L383P probably damaging Het
Dok3 A G 13: 55,523,786 L324P probably damaging Het
Eftud2 A T 11: 102,870,213 F102Y possibly damaging Het
Ewsr1 G A 11: 5,070,668 P551S unknown Het
Fam193a G T 5: 34,443,588 V346L possibly damaging Het
Fam46b C T 4: 133,486,151 A111V probably damaging Het
Golim4 A G 3: 75,878,054 S677P probably damaging Het
Gpr149 A G 3: 62,530,531 probably benign Het
Ins1 A T 19: 52,264,683 K20N probably benign Het
Itpr2 A T 6: 146,240,262 probably benign Het
Jup G A 11: 100,381,839 T249I probably damaging Het
Kctd20 T A 17: 28,957,903 N2K probably benign Het
Kif15 A G 9: 122,995,827 probably benign Het
Klrb1-ps1 T C 6: 129,129,306 noncoding transcript Het
Krtap29-1 T C 11: 99,979,058 probably null Het
Lamb3 A T 1: 193,328,633 probably null Het
Large1 A G 8: 72,912,122 W276R probably damaging Het
Lrp1b T C 2: 41,295,672 N603D probably benign Het
Lrrc37a A G 11: 103,500,381 V1406A probably benign Het
Lrrc74a A G 12: 86,749,048 D265G probably benign Het
Lrrfip2 G A 9: 111,219,725 C250Y probably benign Het
Mbtd1 A G 11: 93,931,803 probably benign Het
Msr1 A G 8: 39,589,316 V406A possibly damaging Het
Mtfr1l C T 4: 134,529,180 D225N probably benign Het
Nckap1l T A 15: 103,483,527 S796R possibly damaging Het
Oaf T A 9: 43,224,922 H119L probably benign Het
Olfr464 A T 11: 87,914,063 M281K probably damaging Het
Pik3c2g A T 6: 139,860,355 H516L probably damaging Het
Pkd1l3 A T 8: 109,660,802 I1793F possibly damaging Het
Ptpra A G 2: 130,552,335 probably benign Het
Slc25a27 C T 17: 43,664,073 probably null Het
Slc2a2 A T 3: 28,698,025 E3D possibly damaging Het
Slc35f5 T C 1: 125,584,555 F14S probably damaging Het
Sspn T C 6: 145,961,386 V105A probably damaging Het
Syvn1 T C 19: 6,050,199 I263T probably damaging Het
Tek A C 4: 94,855,337 D863A probably damaging Het
Tm9sf4 G T 2: 153,204,616 V592F probably benign Het
Tmem259 A G 10: 79,978,317 M354T possibly damaging Het
Ttf2 T C 3: 100,964,093 E84G possibly damaging Het
Ttyh3 T C 5: 140,626,491 E487G probably damaging Het
Ubtf C A 11: 102,306,700 E709* probably null Het
Vmn1r119 T C 7: 21,011,636 R274G probably benign Het
Wdr78 A G 4: 103,096,774 V76A probably damaging Het
Zfp804a A G 2: 82,259,202 Q1125R probably damaging Het
Other mutations in Carm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On2015-04-16