Incidental Mutation 'IGL02526:Prmt8'
| ID |
297094 |
| 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)
|
| Stock # |
IGL02526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
127665972-127746430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127688786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 195
(S195A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032500]
|
| AlphaFold |
Q6PAK3 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
| Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,605,948 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
| Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,839,791 (GRCm39) |
M435L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,081 (GRCm39) |
F442L |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
| Skor1 |
A |
T |
9: 63,053,159 (GRCm39) |
M270K |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,676,438 (GRCm39) |
N495D |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
| Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
| Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
Het |
|
| Other mutations in Prmt8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL03010:Prmt8
|
APN |
6 |
127,706,498 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03037:Prmt8
|
APN |
6 |
127,680,940 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
2015-04-16 |
Incidental Mutation