Incidental Mutation 'IGL03037:Prmt8'
ID 408713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prmt8
Ensembl Gene ENSMUSG00000030350
Gene Name protein arginine N-methyltransferase 8
Synonyms Hrmt1l3, Hrmt1l4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03037
Quality Score
Status
Chromosome 6
Chromosomal Location 127665972-127746430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127680940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 243 (Y243C)
Ref Sequence ENSEMBL: ENSMUSP00000032500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032500]
AlphaFold Q6PAK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000032500
AA Change: Y243C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: Y243C

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,807,294 (GRCm39) L539P probably damaging Het
Adam23 A T 1: 63,610,176 (GRCm39) Q726L possibly damaging Het
Ago1 T C 4: 126,355,587 (GRCm39) E74G probably benign Het
Atp6v1d C A 12: 78,904,122 (GRCm39) probably benign Het
Bltp1 C A 3: 37,023,356 (GRCm39) S2227R probably benign Het
Bltp1 T C 3: 37,023,357 (GRCm39) S2229P probably damaging Het
Cadm4 T A 7: 24,200,220 (GRCm39) L243Q probably damaging Het
Camsap2 C A 1: 136,202,595 (GRCm39) L1274F probably damaging Het
Car10 A G 11: 92,991,044 (GRCm39) probably benign Het
Catsperd A T 17: 56,948,583 (GRCm39) D186V possibly damaging Het
Cdc42bpg A G 19: 6,361,230 (GRCm39) Y285C probably damaging Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Cln8 A T 8: 14,944,679 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cripto C A 9: 110,772,288 (GRCm39) W36L probably benign Het
Ddx5 T C 11: 106,672,930 (GRCm39) N532D possibly damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Dock8 A G 19: 25,063,545 (GRCm39) E249G probably benign Het
Espnl T C 1: 91,269,643 (GRCm39) V393A probably benign Het
Fhip1b A T 7: 105,028,293 (GRCm39) H885Q probably benign Het
Frrs1 T C 3: 116,696,116 (GRCm39) probably benign Het
Fstl4 C A 11: 53,059,050 (GRCm39) A503D possibly damaging Het
Gda T A 19: 21,411,673 (GRCm39) I42L possibly damaging Het
Gprc5d C A 6: 135,093,319 (GRCm39) C196F probably damaging Het
Hnrnpa0 A G 13: 58,275,767 (GRCm39) F121L probably damaging Het
Hsd3b7 C T 7: 127,400,322 (GRCm39) H24Y probably damaging Het
Ift140 T C 17: 25,311,368 (GRCm39) S1188P probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mcemp1 C A 8: 3,717,055 (GRCm39) Y65* probably null Het
Mmp16 C T 4: 17,996,222 (GRCm39) P104S probably damaging Het
Mpst C A 15: 78,294,798 (GRCm39) R177S probably benign Het
Nek1 A T 8: 61,487,086 (GRCm39) T279S probably benign Het
Or1q1 C T 2: 36,887,560 (GRCm39) T246I probably benign Het
Or1x2 A T 11: 50,918,117 (GRCm39) Y96F probably damaging Het
Or4c11b A G 2: 88,625,299 (GRCm39) Y191C probably damaging Het
Or7g18 T A 9: 18,786,668 (GRCm39) I12N probably damaging Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pik3r4 A G 9: 105,528,012 (GRCm39) D455G probably damaging Het
Piwil4 T C 9: 14,616,308 (GRCm39) I756V possibly damaging Het
Pkhd1 A G 1: 20,592,923 (GRCm39) L1730P probably benign Het
Pnpla3 T C 15: 84,056,960 (GRCm39) I155T probably damaging Het
Rbfox1 T A 16: 7,110,147 (GRCm39) probably benign Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Scaf8 A G 17: 3,240,496 (GRCm39) K623E probably damaging Het
Slc26a4 A T 12: 31,581,686 (GRCm39) probably benign Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Smarca4 T C 9: 21,544,231 (GRCm39) probably benign Het
Sos1 T C 17: 80,727,758 (GRCm39) D775G probably damaging Het
Spag17 G A 3: 99,979,486 (GRCm39) probably null Het
Spata31d1d T A 13: 59,873,947 (GRCm39) E1196V possibly damaging Het
Sqle T A 15: 59,193,246 (GRCm39) Y208N probably damaging Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tenm3 A G 8: 48,751,913 (GRCm39) F959L possibly damaging Het
Tnfrsf19 T A 14: 61,261,721 (GRCm39) K26I possibly damaging Het
Trappc10 A T 10: 78,034,869 (GRCm39) probably benign Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Trpm3 A G 19: 22,866,776 (GRCm39) T536A possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Uaca A G 9: 60,748,147 (GRCm39) D37G probably damaging Het
Ube3a T C 7: 58,896,971 (GRCm39) probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Ugp2 T A 11: 21,282,540 (GRCm39) K151* probably null Het
Wasf1 A G 10: 40,806,654 (GRCm39) K99R probably benign Het
Wnt4 C T 4: 137,016,472 (GRCm39) T42M possibly damaging Het
Zfp54 T A 17: 21,650,477 (GRCm39) D17E probably damaging Het
Other mutations in Prmt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Prmt8 APN 6 127,667,680 (GRCm39) missense probably benign 0.17
IGL02178:Prmt8 APN 6 127,674,770 (GRCm39) missense probably benign 0.06
IGL02526:Prmt8 APN 6 127,688,786 (GRCm39) missense probably damaging 0.96
IGL03010:Prmt8 APN 6 127,706,498 (GRCm39) missense probably benign 0.09
R0096:Prmt8 UTSW 6 127,709,590 (GRCm39) splice site probably benign
R0254:Prmt8 UTSW 6 127,688,771 (GRCm39) missense probably damaging 1.00
R0355:Prmt8 UTSW 6 127,688,837 (GRCm39) nonsense probably null
R0925:Prmt8 UTSW 6 127,674,776 (GRCm39) missense probably benign 0.00
R1606:Prmt8 UTSW 6 127,666,799 (GRCm39) nonsense probably null
R1716:Prmt8 UTSW 6 127,703,486 (GRCm39) critical splice donor site probably null
R3789:Prmt8 UTSW 6 127,688,110 (GRCm39) missense probably damaging 1.00
R3790:Prmt8 UTSW 6 127,688,110 (GRCm39) missense probably damaging 1.00
R3958:Prmt8 UTSW 6 127,709,707 (GRCm39) missense probably benign 0.00
R5022:Prmt8 UTSW 6 127,688,126 (GRCm39) missense possibly damaging 0.92
R5143:Prmt8 UTSW 6 127,709,677 (GRCm39) missense probably benign
R5635:Prmt8 UTSW 6 127,745,692 (GRCm39) missense probably damaging 1.00
R5816:Prmt8 UTSW 6 127,674,701 (GRCm39) missense probably benign 0.09
R5959:Prmt8 UTSW 6 127,706,381 (GRCm39) missense probably damaging 1.00
R6267:Prmt8 UTSW 6 127,688,767 (GRCm39) missense probably damaging 0.99
R6296:Prmt8 UTSW 6 127,688,767 (GRCm39) missense probably damaging 0.99
R6450:Prmt8 UTSW 6 127,709,606 (GRCm39) missense possibly damaging 0.71
R6603:Prmt8 UTSW 6 127,706,376 (GRCm39) missense probably benign 0.00
R7208:Prmt8 UTSW 6 127,666,792 (GRCm39) missense possibly damaging 0.81
R7629:Prmt8 UTSW 6 127,666,846 (GRCm39) nonsense probably null
R7719:Prmt8 UTSW 6 127,706,466 (GRCm39) missense probably damaging 0.97
R8313:Prmt8 UTSW 6 127,666,813 (GRCm39) missense probably benign
R8346:Prmt8 UTSW 6 127,688,810 (GRCm39) missense probably damaging 1.00
R8404:Prmt8 UTSW 6 127,666,825 (GRCm39) missense possibly damaging 0.93
R8483:Prmt8 UTSW 6 127,680,976 (GRCm39) splice site probably null
R8843:Prmt8 UTSW 6 127,706,462 (GRCm39) missense probably damaging 0.99
X0020:Prmt8 UTSW 6 127,674,734 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02