Incidental Mutation 'R7629:Prmt8'
| ID |
589543 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
127665972-127746430 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 127666846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 376
(L376*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032500]
|
| AlphaFold |
Q6PAK3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032500
AA Change: L376*
|
| SMART Domains |
Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: L376*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
G |
A |
16: 88,504,293 (GRCm39) |
T168I |
probably benign |
Het |
| Abtb2 |
T |
A |
2: 103,513,838 (GRCm39) |
|
probably null |
Het |
| Ankrd10 |
A |
T |
8: 11,665,769 (GRCm39) |
V277E |
probably benign |
Het |
| Ankrd28 |
C |
T |
14: 31,437,221 (GRCm39) |
V615I |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,945,074 (GRCm39) |
P1079L |
probably damaging |
Het |
| Brox |
G |
A |
1: 183,074,068 (GRCm39) |
A60V |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,871,151 (GRCm39) |
V289A |
possibly damaging |
Het |
| Cplane1 |
C |
T |
15: 8,256,551 (GRCm39) |
Q2004* |
probably null |
Het |
| Dido1 |
T |
C |
2: 180,303,266 (GRCm39) |
N1546S |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,992,337 (GRCm39) |
I361N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 24,887,374 (GRCm39) |
D88E |
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,974,744 (GRCm39) |
M632T |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,865,913 (GRCm39) |
T213A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,527,514 (GRCm39) |
V555A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,394,422 (GRCm39) |
L192P |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,016,784 (GRCm39) |
R1317* |
probably null |
Het |
| Kndc1 |
A |
T |
7: 139,475,176 (GRCm39) |
E25V |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,675 (GRCm39) |
D435V |
possibly damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,509,283 (GRCm39) |
M375L |
probably benign |
Het |
| Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
G |
A |
10: 102,224,931 (GRCm39) |
V382I |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,478,081 (GRCm39) |
T7075A |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,760,325 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,163,973 (GRCm39) |
D1995G |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,198,560 (GRCm39) |
V75A |
possibly damaging |
Het |
| Or4k35 |
C |
T |
2: 111,100,221 (GRCm39) |
V164I |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,094,493 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,173,603 (GRCm39) |
I489T |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,572,740 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Pde6h |
G |
T |
6: 136,936,317 (GRCm39) |
R20L |
possibly damaging |
Het |
| Pdxk |
A |
G |
10: 78,280,840 (GRCm39) |
I200T |
probably benign |
Het |
| Ppara |
A |
T |
15: 85,682,392 (GRCm39) |
M363L |
probably damaging |
Het |
| Serpina1a |
G |
C |
12: 103,820,067 (GRCm39) |
T393R |
probably damaging |
Het |
| Sfxn1 |
C |
T |
13: 54,247,041 (GRCm39) |
R178C |
probably damaging |
Het |
| Sirpb1c |
A |
T |
3: 15,902,559 (GRCm39) |
W7R |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,799,857 (GRCm39) |
Y104C |
probably damaging |
Het |
| Slamf6 |
A |
T |
1: 171,764,191 (GRCm39) |
T195S |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,214 (GRCm39) |
D301G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,719,646 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
C |
G |
19: 40,599,780 (GRCm39) |
D141H |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,715,877 (GRCm39) |
N1164D |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,676,002 (GRCm39) |
V711I |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,869,160 (GRCm39) |
G32D |
probably damaging |
Het |
| Usp32 |
TTTGGTTG |
TTTG |
11: 84,910,681 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,711 (GRCm39) |
I246V |
probably benign |
Het |
| Zfp362 |
G |
T |
4: 128,679,848 (GRCm39) |
R273S |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,951,100 (GRCm39) |
D66G |
possibly damaging |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
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 |
|
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'- CGCCAATCTTCAAGGCAGAG -3'
(R):5'- GCTATCAGAGCCCTTTCTGTG -3'
Sequencing Primer
(F):5'- TCTTCAAGGCAGAGTGGAAAGCTC -3'
(R):5'- CAGAGCCCTTTCTGTGAGGATAATG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation