Incidental Mutation 'IGL03195:Prmt1'
ID412789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prmt1
Ensembl Gene ENSMUSG00000109324
Gene Nameprotein arginine N-methyltransferase 1
SynonymsHrmt1l2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL03195
Quality Score
Status
Chromosome7
Chromosomal Location44975989-44986568 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44977571 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 205 (Y205C)
Ref Sequence ENSEMBL: ENSMUSP00000147101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045325] [ENSMUST00000063761] [ENSMUST00000107843] [ENSMUST00000207370] [ENSMUST00000207522] [ENSMUST00000207659] [ENSMUST00000208312] [ENSMUST00000208829] [ENSMUST00000208938] [ENSMUST00000209124] [ENSMUST00000211862] [ENSMUST00000212255] [ENSMUST00000212836]
Predicted Effect probably benign
Transcript: ENSMUST00000045325
AA Change: Y269C

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045365
Gene: ENSMUSG00000109324
AA Change: Y269C

DomainStartEndE-ValueType
Pfam:PRMT5 41 343 3.9e-11 PFAM
Pfam:Met_10 72 184 5.4e-7 PFAM
Pfam:MTS 78 162 7e-7 PFAM
Pfam:PrmA 79 182 8.1e-10 PFAM
Pfam:Methyltransf_31 86 226 4.1e-10 PFAM
Pfam:Methyltransf_18 88 195 3.5e-9 PFAM
Pfam:Methyltransf_26 89 189 1.4e-8 PFAM
Pfam:Methyltransf_11 93 192 3.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063761
SMART Domains Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

DomainStartEndE-ValueType
Pfam:CPT_N 1 47 2.3e-21 PFAM
transmembrane domain 104 126 N/A INTRINSIC
Pfam:Carn_acyltransf 171 757 7.7e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107843
AA Change: Y322C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324
AA Change: Y322C

DomainStartEndE-ValueType
Pfam:PRMT5 41 343 1.9e-8 PFAM
Pfam:MTS 78 162 1.1e-6 PFAM
Pfam:PrmA 79 181 1.3e-9 PFAM
Pfam:Methyltransf_31 86 226 4e-10 PFAM
Pfam:Methyltransf_18 88 192 6.2e-9 PFAM
Pfam:Methyltransf_11 93 192 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207370
AA Change: Y304C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207515
Predicted Effect probably benign
Transcript: ENSMUST00000207522
Predicted Effect probably damaging
Transcript: ENSMUST00000207659
AA Change: Y205C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207735
Predicted Effect probably benign
Transcript: ENSMUST00000208312
Predicted Effect unknown
Transcript: ENSMUST00000208778
AA Change: Y170C
Predicted Effect probably benign
Transcript: ENSMUST00000208829
AA Change: Y73C

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208897
Predicted Effect probably benign
Transcript: ENSMUST00000208938
Predicted Effect probably benign
Transcript: ENSMUST00000209056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209089
Predicted Effect probably benign
Transcript: ENSMUST00000209124
AA Change: Y159C

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211862
Predicted Effect probably benign
Transcript: ENSMUST00000212255
Predicted Effect probably benign
Transcript: ENSMUST00000212836
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 encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for a null mutation die before E6.5 and exhibit abnormal embryonic tissue morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Prmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Prmt1 APN 7 44977635 unclassified probably benign
R0110:Prmt1 UTSW 7 44978801 unclassified probably benign
R0313:Prmt1 UTSW 7 44978748 missense probably benign 0.39
R0326:Prmt1 UTSW 7 44979454 missense probably damaging 1.00
R0522:Prmt1 UTSW 7 44981779 missense probably benign 0.08
R0531:Prmt1 UTSW 7 44977624 missense probably damaging 1.00
R0611:Prmt1 UTSW 7 44978801 splice site probably null
R2002:Prmt1 UTSW 7 44978724 missense probably damaging 1.00
R4712:Prmt1 UTSW 7 44981636 missense probably damaging 1.00
R6032:Prmt1 UTSW 7 44977102 unclassified probably null
R6153:Prmt1 UTSW 7 44981827 missense probably damaging 1.00
R7087:Prmt1 UTSW 7 44981583 splice site probably null
R7216:Prmt1 UTSW 7 44983573 missense probably benign
Posted On2016-08-02