Incidental Mutation 'R8404:Prmt8'
ID |
652312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prmt8
|
Ensembl Gene |
ENSMUSG00000030350 |
Gene Name |
protein arginine N-methyltransferase 8 |
Synonyms |
Hrmt1l3, Hrmt1l4 |
MMRRC Submission |
067764-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8404 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
127665972-127746430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 127666825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 383
(C383Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032500]
|
AlphaFold |
Q6PAK3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032500
AA Change: C383Y
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032500 Gene: ENSMUSG00000030350 AA Change: C383Y
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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 |
Abca6 |
T |
A |
11: 110,110,145 (GRCm39) |
L599F |
probably damaging |
Het |
Accs |
T |
C |
2: 93,668,460 (GRCm39) |
Y337C |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Apcdd1 |
A |
T |
18: 63,066,986 (GRCm39) |
R33S |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,709,695 (GRCm39) |
S441P |
probably damaging |
Het |
Crlf2 |
T |
C |
5: 109,704,917 (GRCm39) |
D98G |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,850,606 (GRCm39) |
D1693G |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
Gm6899 |
C |
G |
11: 26,543,630 (GRCm39) |
R66G |
unknown |
Het |
Hira |
T |
G |
16: 18,770,912 (GRCm39) |
S850A |
possibly damaging |
Het |
Krt10 |
C |
T |
11: 99,278,359 (GRCm39) |
E267K |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,837,015 (GRCm39) |
N1074S |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,344,585 (GRCm39) |
W844* |
probably null |
Het |
Maml3 |
T |
C |
3: 51,598,077 (GRCm39) |
Y869C |
probably damaging |
Het |
Nap1l1 |
T |
A |
10: 111,317,162 (GRCm39) |
M1K |
probably null |
Het |
Nbeal2 |
C |
T |
9: 110,463,457 (GRCm39) |
S1258N |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,134 (GRCm39) |
Y134* |
probably null |
Het |
Pam |
T |
C |
1: 97,823,358 (GRCm39) |
Q271R |
probably damaging |
Het |
Pced1a |
T |
C |
2: 130,265,577 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
T |
C |
19: 47,093,231 (GRCm39) |
V503A |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pinx1 |
T |
A |
14: 64,157,063 (GRCm39) |
V330D |
unknown |
Het |
Prdm2 |
T |
C |
4: 142,861,584 (GRCm39) |
I569V |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,397,302 (GRCm39) |
D197G |
probably damaging |
Het |
Prss42 |
T |
C |
9: 110,629,984 (GRCm39) |
L246P |
probably damaging |
Het |
Ptpra |
C |
A |
2: 130,391,679 (GRCm39) |
D732E |
probably damaging |
Het |
Rpp30 |
T |
C |
19: 36,066,603 (GRCm39) |
L112P |
probably damaging |
Het |
Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
Slc22a28 |
A |
T |
19: 8,108,793 (GRCm39) |
C116* |
probably null |
Het |
Slc45a2 |
T |
C |
15: 11,027,958 (GRCm39) |
I509T |
possibly damaging |
Het |
Spag7 |
T |
C |
11: 70,560,059 (GRCm39) |
S17G |
probably benign |
Het |
Trim62 |
A |
G |
4: 128,803,233 (GRCm39) |
I428V |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,751,942 (GRCm39) |
T92A |
probably damaging |
Het |
Zan |
A |
T |
5: 137,396,594 (GRCm39) |
C4321S |
unknown |
Het |
Zbtb32 |
G |
A |
7: 30,291,035 (GRCm39) |
P87S |
possibly damaging |
Het |
Zer1 |
C |
T |
2: 29,995,035 (GRCm39) |
|
probably null |
Het |
Zfat |
T |
C |
15: 67,976,916 (GRCm39) |
T1078A |
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 |
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 |
|
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 |
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'- AAGTTCGCCAATCTTCAAGGC -3'
(R):5'- ATCAGAGCCCTTTCTGTGAGG -3'
Sequencing Primer
(F):5'- CGCCAATCTTCAAGGCAGAGTG -3'
(R):5'- CCAGAATGGTTTCCTGAGGAC -3'
|
Posted On |
2020-10-20 |