Incidental Mutation 'IGL02245:Prmt7'
| ID |
286161 |
| 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: 0.902)
|
| Stock # |
IGL02245
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106937686-106978326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106963937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 277
(V277A)
|
| 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 benign
Transcript: ENSMUST00000071592
AA Change: V277A
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000071521
Gene: ENSMUSG00000060098
AA Change: V277A
| 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: V260A
|
| SMART Domains |
Protein: ENSMUSP00000119992
Gene: ENSMUSG00000060098
AA Change: V260A
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,772 (GRCm39) |
I1398V |
probably benign |
Het |
| Abca5 |
G |
A |
11: 110,188,995 (GRCm39) |
Q821* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,116,009 (GRCm39) |
L895Q |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,844,357 (GRCm39) |
D41G |
probably damaging |
Het |
| Daxx |
A |
G |
17: 34,131,351 (GRCm39) |
|
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,628 (GRCm39) |
Y360H |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,321 (GRCm39) |
T47A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,174 (GRCm39) |
V512A |
probably benign |
Het |
| Exoc2 |
T |
C |
13: 31,090,842 (GRCm39) |
D254G |
probably benign |
Het |
| Gtpbp1 |
G |
T |
15: 79,575,127 (GRCm39) |
R7L |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,706,201 (GRCm39) |
I500N |
probably benign |
Het |
| H2ac6 |
A |
T |
13: 23,867,783 (GRCm39) |
Y40N |
probably damaging |
Het |
| H2ac6 |
G |
T |
13: 23,867,784 (GRCm39) |
N39K |
possibly damaging |
Het |
| Hormad2 |
T |
C |
11: 4,358,580 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,089,445 (GRCm39) |
Q1130R |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,150,903 (GRCm39) |
D836E |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,427,797 (GRCm39) |
T456S |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
| Mre11a |
C |
T |
9: 14,726,572 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
A |
C |
11: 67,102,313 (GRCm39) |
E868A |
possibly damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,300 (GRCm39) |
S262R |
probably damaging |
Het |
| Nlrp9a |
C |
T |
7: 26,257,318 (GRCm39) |
T223I |
probably benign |
Het |
| Nosip |
A |
G |
7: 44,723,466 (GRCm39) |
D44G |
probably benign |
Het |
| Nr6a1 |
C |
T |
2: 38,630,565 (GRCm39) |
M217I |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,649,601 (GRCm39) |
T1111A |
probably benign |
Het |
| Or6c6c |
T |
A |
10: 129,541,608 (GRCm39) |
I287N |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,519 (GRCm39) |
L340P |
probably damaging |
Het |
| Pxmp4 |
T |
C |
2: 154,429,870 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rbm11 |
G |
T |
16: 75,389,896 (GRCm39) |
V21L |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,416,712 (GRCm39) |
S1123P |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,156,734 (GRCm39) |
|
probably benign |
Het |
| Rnf41 |
T |
G |
10: 128,273,196 (GRCm39) |
*123G |
probably null |
Het |
| Samhd1 |
C |
T |
2: 156,952,475 (GRCm39) |
D426N |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,501,218 (GRCm39) |
W189R |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,055,150 (GRCm39) |
F265L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,897,661 (GRCm39) |
D137G |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,209,103 (GRCm39) |
|
probably benign |
Het |
| Suclg2 |
A |
G |
6: 95,572,722 (GRCm39) |
I81T |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,556 (GRCm39) |
R601H |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,254,086 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
G |
17: 78,932,480 (GRCm39) |
D529G |
probably damaging |
Het |
| Wbp1l |
C |
T |
19: 46,643,057 (GRCm39) |
H353Y |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,075,965 (GRCm39) |
V170D |
possibly damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,995,751 (GRCm39) |
I947N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,197 (GRCm39) |
S359P |
probably benign |
Het |
| Zfp936 |
T |
C |
7: 42,836,722 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
T |
A |
7: 10,896,716 (GRCm39) |
Y218F |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation