Incidental Mutation 'R0925:Prmt8'
ID |
83140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prmt8
|
Ensembl Gene |
ENSMUSG00000030350 |
Gene Name |
protein arginine N-methyltransferase 8 |
Synonyms |
Hrmt1l3, Hrmt1l4 |
MMRRC Submission |
039072-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0925 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
127665972-127746430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127674776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 284
(K284R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032500]
|
AlphaFold |
Q6PAK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032500
AA Change: K284R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000032500 Gene: ENSMUSG00000030350 AA Change: K284R
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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
Dnajb6 |
A |
T |
5: 29,957,398 (GRCm39) |
K60I |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
Elmod3 |
A |
T |
6: 72,545,921 (GRCm39) |
C274S |
probably damaging |
Het |
Eme1 |
T |
C |
11: 94,541,558 (GRCm39) |
E88G |
probably damaging |
Het |
Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
Gmnc |
A |
G |
16: 26,779,173 (GRCm39) |
L278P |
probably benign |
Het |
Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
Hormad2 |
G |
A |
11: 4,377,297 (GRCm39) |
T47M |
probably damaging |
Het |
Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
Rsl1d1 |
A |
T |
16: 11,017,553 (GRCm39) |
Y138N |
probably damaging |
Het |
Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
Wdfy2 |
A |
T |
14: 63,167,675 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGAGGCACCTCTCAAGGCAGAC -3'
(R):5'- GCCACTCCAACTTGCTTTAGGGAC -3'
Sequencing Primer
(F):5'- cgtgtgttggaaatgtggg -3'
(R):5'- TAGGGACATGTGGTCTCCTAAAC -3'
|
Posted On |
2013-11-08 |