Incidental Mutation 'R0104:Prmt7'
| ID |
64149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt7
|
| Ensembl Gene |
ENSMUSG00000060098 |
| Gene Name |
protein arginine N-methyltransferase 7 |
| Synonyms |
4933402B05Rik |
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106937686-106978326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106963982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 292
(I292T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071592]
[ENSMUST00000109297]
|
| AlphaFold |
Q922X9 |
| PDB Structure |
Crystal structure of mouse protein arginine methyltransferase 7 in complex with SAH [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071592
AA Change: I292T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071521
Gene: ENSMUSG00000060098
AA Change: I292T
| 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 |
probably benign
Transcript: ENSMUST00000109297
|
| SMART Domains |
Protein: ENSMUSP00000104920
Gene: ENSMUSG00000060098
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PrmA
|
51 |
148 |
1.5e-8 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128201
AA Change: I275T
|
| SMART Domains |
Protein: ENSMUSP00000119992
Gene: ENSMUSG00000060098
AA Change: I275T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PrmA
|
37 |
132 |
3.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180410
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnah5 |
A |
T |
15: 28,453,499 (GRCm39) |
E4423D |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,465,116 (GRCm39) |
L10H |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,314,966 (GRCm39) |
H704Q |
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,110,966 (GRCm39) |
I66T |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,300,619 (GRCm39) |
Y157H |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,146,807 (GRCm39) |
D443G |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,718 (GRCm39) |
E132G |
probably benign |
Het |
| Pmpcb |
C |
G |
5: 21,951,036 (GRCm39) |
S266* |
probably null |
Het |
| Rif1 |
T |
C |
2: 52,000,104 (GRCm39) |
L1186S |
possibly damaging |
Het |
| Sox30 |
A |
C |
11: 45,872,141 (GRCm39) |
E332A |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,809 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACATCAGTACCATTGTTGGGC -3'
(R):5'- TCAGACTCATCTTGGAGAGCAGGC -3'
Sequencing Primer
(F):5'- CAGGTCTCTGTGGAAGCTTAAC -3'
(R):5'- gctcgatcactgagtacattcc -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation