Incidental Mutation 'IGL02526:Prmt8'
ID297094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prmt8
Ensembl Gene ENSMUSG00000030350
Gene Nameprotein arginine N-methyltransferase 8
SynonymsHrmt1l3, Hrmt1l4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02526
Quality Score
Status
Chromosome6
Chromosomal Location127689011-127769472 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 127711823 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 195 (S195A)
Ref Sequence ENSEMBL: ENSMUSP00000032500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032500]
Predicted Effect probably damaging
Transcript: ENSMUST00000032500
AA Change: S195A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: S195A

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:PRMT5 80 368 4.5e-7 PFAM
Pfam:PrmA 102 200 2e-10 PFAM
Pfam:Methyltransf_31 110 274 7.3e-9 PFAM
Pfam:Methyltransf_18 111 215 9.9e-8 PFAM
Pfam:Methyltransf_11 116 215 6.2e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit abnormal Purkinje cell dendrite morphology, hyperactivity, limb grasping and gait abnormalities, and show reduced levels of acetylcholine and choline along with increased phosphatidylcholine levels in the cerebellum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnb2 A G 1: 15,710,755 E617G probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pi4k2b T C 5: 52,767,739 F442L probably damaging Het
Pla2g12b T A 10: 59,416,453 C49S probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Them6 A T 15: 74,721,655 T121S possibly damaging Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usf3 C A 16: 44,220,311 A1718D possibly damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt9a T C 11: 59,328,505 F119S probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S probably benign Het
Other mutations in Prmt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Prmt8 APN 6 127690717 missense probably benign 0.17
IGL02178:Prmt8 APN 6 127697807 missense probably benign 0.06
IGL03010:Prmt8 APN 6 127729535 missense probably benign 0.09
IGL03037:Prmt8 APN 6 127703977 missense possibly damaging 0.75
R0096:Prmt8 UTSW 6 127732627 splice site probably benign
R0254:Prmt8 UTSW 6 127711808 missense probably damaging 1.00
R0355:Prmt8 UTSW 6 127711874 nonsense probably null
R0925:Prmt8 UTSW 6 127697813 missense probably benign 0.00
R1606:Prmt8 UTSW 6 127689836 nonsense probably null
R1716:Prmt8 UTSW 6 127726523 critical splice donor site probably null
R3789:Prmt8 UTSW 6 127711147 missense probably damaging 1.00
R3790:Prmt8 UTSW 6 127711147 missense probably damaging 1.00
R3958:Prmt8 UTSW 6 127732744 missense probably benign 0.00
R5022:Prmt8 UTSW 6 127711163 missense possibly damaging 0.92
R5143:Prmt8 UTSW 6 127732714 missense probably benign
R5635:Prmt8 UTSW 6 127768729 missense probably damaging 1.00
R5816:Prmt8 UTSW 6 127697738 missense probably benign 0.09
R5959:Prmt8 UTSW 6 127729418 missense probably damaging 1.00
R6267:Prmt8 UTSW 6 127711804 missense probably damaging 0.99
R6296:Prmt8 UTSW 6 127711804 missense probably damaging 0.99
R6450:Prmt8 UTSW 6 127732643 missense possibly damaging 0.71
R6603:Prmt8 UTSW 6 127729413 missense probably benign 0.00
R7208:Prmt8 UTSW 6 127689829 missense possibly damaging 0.81
R7629:Prmt8 UTSW 6 127689883 nonsense probably null
R7719:Prmt8 UTSW 6 127729503 missense probably damaging 0.97
R8313:Prmt8 UTSW 6 127689850 missense probably benign
R8346:Prmt8 UTSW 6 127711847 missense probably damaging 1.00
R8404:Prmt8 UTSW 6 127689862 missense possibly damaging 0.93
R8483:Prmt8 UTSW 6 127704013 splice site probably null
R8843:Prmt8 UTSW 6 127729499 missense probably damaging 0.99
X0020:Prmt8 UTSW 6 127697771 missense probably benign 0.01
Posted On2015-04-16