Incidental Mutation 'P0047:Srrm3'
| ID |
7757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrm3
|
| Ensembl Gene |
ENSMUSG00000039860 |
| Gene Name |
serine/arginine repetitive matrix 3 |
| Synonyms |
Srrm2l, 2900083I11Rik, SRm300-like |
| MMRRC Submission |
038294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
P0047 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135835744-135903626 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 135881780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013615]
[ENSMUST00000126232]
[ENSMUST00000144211]
|
| AlphaFold |
Q80WV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013615
|
| SMART Domains |
Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
low complexity region
|
160 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126232
|
| SMART Domains |
Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135615
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144211
|
| SMART Domains |
Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
internal_repeat_1
|
122 |
142 |
4.3e-6 |
PROSPERO |
|
low complexity region
|
160 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
317 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
325 |
345 |
4.3e-6 |
PROSPERO |
|
low complexity region
|
362 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
|
Pfam:SRRM_C
|
520 |
584 |
1.9e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 81.2%
- 3x: 73.1%
- 10x: 47.2%
- 20x: 24.0%
|
| Validation Efficiency |
83% (73/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap20 |
T |
C |
9: 51,760,536 (GRCm39) |
S760P |
probably damaging |
Het |
| Cenatac |
T |
A |
9: 44,324,506 (GRCm39) |
|
probably benign |
Het |
| Defa22 |
C |
A |
8: 21,653,102 (GRCm39) |
C71* |
probably null |
Het |
| Fanci |
A |
G |
7: 79,093,792 (GRCm39) |
D1048G |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,843,223 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
T |
A |
13: 49,807,824 (GRCm39) |
|
probably null |
Het |
| Nvl |
T |
C |
1: 180,939,867 (GRCm39) |
T628A |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,785 (GRCm39) |
D293V |
probably damaging |
Het |
| Pms2 |
A |
G |
5: 143,856,416 (GRCm39) |
D7G |
probably damaging |
Het |
| Stradb |
G |
A |
1: 59,028,957 (GRCm39) |
G142S |
probably null |
Het |
| Txndc11 |
C |
T |
16: 10,909,661 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Srrm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02479:Srrm3
|
APN |
5 |
135,864,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Srrm3
|
APN |
5 |
135,883,287 (GRCm39) |
splice site |
probably null |
|
|
IGL03099:Srrm3
|
APN |
5 |
135,898,152 (GRCm39) |
splice site |
probably benign |
|
|
R0688:Srrm3
|
UTSW |
5 |
135,898,130 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0811:Srrm3
|
UTSW |
5 |
135,902,136 (GRCm39) |
unclassified |
probably benign |
|
|
R0812:Srrm3
|
UTSW |
5 |
135,902,136 (GRCm39) |
unclassified |
probably benign |
|
|
R1083:Srrm3
|
UTSW |
5 |
135,883,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1161:Srrm3
|
UTSW |
5 |
135,883,246 (GRCm39) |
small deletion |
probably benign |
|
|
R1656:Srrm3
|
UTSW |
5 |
135,863,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1694:Srrm3
|
UTSW |
5 |
135,902,079 (GRCm39) |
unclassified |
probably benign |
|
|
R1803:Srrm3
|
UTSW |
5 |
135,885,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2037:Srrm3
|
UTSW |
5 |
135,883,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Srrm3
|
UTSW |
5 |
135,864,030 (GRCm39) |
nonsense |
probably null |
|
|
R3826:Srrm3
|
UTSW |
5 |
135,886,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3829:Srrm3
|
UTSW |
5 |
135,886,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4840:Srrm3
|
UTSW |
5 |
135,883,449 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6526:Srrm3
|
UTSW |
5 |
135,864,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Srrm3
|
UTSW |
5 |
135,881,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7408:Srrm3
|
UTSW |
5 |
135,881,060 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7583:Srrm3
|
UTSW |
5 |
135,881,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8096:Srrm3
|
UTSW |
5 |
135,898,094 (GRCm39) |
missense |
unknown |
|
|
R9294:Srrm3
|
UTSW |
5 |
135,897,115 (GRCm39) |
missense |
unknown |
|
|
R9605:Srrm3
|
UTSW |
5 |
135,881,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-10-29 |
Incidental Mutation