Incidental Mutation 'IGL01565:Prmt7'
| ID |
90963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prmt7
|
| Ensembl Gene |
ENSMUSG00000060098 |
| Gene Name |
protein arginine N-methyltransferase 7 |
| Synonyms |
4933402B05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106937686-106978326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106977041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 584
(D584E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067512]
[ENSMUST00000071592]
[ENSMUST00000212896]
|
| AlphaFold |
Q922X9 |
| PDB Structure |
Crystal structure of mouse protein arginine methyltransferase 7 in complex with SAH [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067512
|
| SMART Domains |
Protein: ENSMUSP00000069255
Gene: ENSMUSG00000031906
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
Pfam:Exo_endo_phos
|
321 |
639 |
1.2e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071592
AA Change: D584E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071521
Gene: ENSMUSG00000060098
AA Change: D584E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PrmA
|
53 |
148 |
1.6e-7 |
PFAM |
|
internal_repeat_1
|
382 |
652 |
1.71e-8 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212896
|
| 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 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
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 |
|
|
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 |
|
R7858:Prmt7
|
UTSW |
8 |
106,971,320 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation