Incidental Mutation 'R1161:Srrm3'
| ID |
100401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrm3
|
| Ensembl Gene |
ENSMUSG00000039860 |
| Gene Name |
serine/arginine repetitive matrix 3 |
| Synonyms |
Srrm2l, 2900083I11Rik, SRm300-like |
| MMRRC Submission |
039234-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R1161 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135835744-135903626 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CAAGAAGAAGAAGAA to CAAGAAGAAGAA
at 135883246 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 benign
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 |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
| Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
| Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
| Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
| Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
probably damaging |
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 |
|
|
P0047:Srrm3
|
UTSW |
5 |
135,881,780 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation