Incidental Mutation 'R7858:Prmt7'
| ID |
607339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt7
|
| Ensembl Gene |
ENSMUSG00000060098 |
| Gene Name |
protein arginine N-methyltransferase 7 |
| Synonyms |
4933402B05Rik |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106937686-106978326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106971320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 452
(I452S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071592]
|
| AlphaFold |
Q922X9 |
| PDB Structure |
Crystal structure of mouse protein arginine methyltransferase 7 in complex with SAH [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071592
AA Change: I452S
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071521
Gene: ENSMUSG00000060098
AA Change: I452S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PrmA
|
53 |
148 |
1.6e-7 |
PFAM |
|
internal_repeat_1
|
382 |
652 |
1.71e-8 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.5598 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004 [PubMed 15044439]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
| Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
Het |
|
| Other mutations in Prmt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Prmt7
|
APN |
8 |
106,963,846 (GRCm39) |
splice site |
probably benign |
|
|
IGL01565:Prmt7
|
APN |
8 |
106,977,041 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02245:Prmt7
|
APN |
8 |
106,963,937 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0104:Prmt7
|
UTSW |
8 |
106,963,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Prmt7
|
UTSW |
8 |
106,953,839 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Prmt7
|
UTSW |
8 |
106,963,916 (GRCm39) |
nonsense |
probably null |
|
|
R1551:Prmt7
|
UTSW |
8 |
106,964,014 (GRCm39) |
missense |
probably benign |
|
|
R1848:Prmt7
|
UTSW |
8 |
106,963,640 (GRCm39) |
missense |
probably benign |
|
|
R2117:Prmt7
|
UTSW |
8 |
106,953,930 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3784:Prmt7
|
UTSW |
8 |
106,968,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4599:Prmt7
|
UTSW |
8 |
106,976,961 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4940:Prmt7
|
UTSW |
8 |
106,963,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4983:Prmt7
|
UTSW |
8 |
106,976,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Prmt7
|
UTSW |
8 |
106,974,991 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6015:Prmt7
|
UTSW |
8 |
106,961,640 (GRCm39) |
intron |
probably benign |
|
|
R6520:Prmt7
|
UTSW |
8 |
106,961,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Prmt7
|
UTSW |
8 |
106,961,732 (GRCm39) |
missense |
unknown |
|
|
R7122:Prmt7
|
UTSW |
8 |
106,961,732 (GRCm39) |
missense |
unknown |
|
|
R7233:Prmt7
|
UTSW |
8 |
106,946,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7538:Prmt7
|
UTSW |
8 |
106,964,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7577:Prmt7
|
UTSW |
8 |
106,968,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Prmt7
|
UTSW |
8 |
106,963,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8991:Prmt7
|
UTSW |
8 |
106,943,874 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9041:Prmt7
|
UTSW |
8 |
106,963,460 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9188:Prmt7
|
UTSW |
8 |
106,961,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9338:Prmt7
|
UTSW |
8 |
106,961,665 (GRCm39) |
missense |
unknown |
|
|
R9406:Prmt7
|
UTSW |
8 |
106,970,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Prmt7
|
UTSW |
8 |
106,953,930 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAGACATGGTAACTTTGAGAG -3'
(R):5'- TGGCCAAGCTACATGAGAGAC -3'
Sequencing Primer
(F):5'- GCTTTTTATGATGCTGCAGATTGAAC -3'
(R):5'- TGAGAGACATCACACAGCATTTAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation