Incidental Mutation 'R2436:Srrm3'
| ID |
249578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrm3
|
| Ensembl Gene |
ENSMUSG00000039860 |
| Gene Name |
serine/arginine repetitive matrix 3 |
| Synonyms |
Srrm2l, 2900083I11Rik, SRm300-like |
| MMRRC Submission |
040397-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R2436 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135835744-135903626 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 135864030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 43
(E43*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013615]
[ENSMUST00000126232]
[ENSMUST00000144211]
|
| AlphaFold |
Q80WV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000013615
AA Change: E43*
|
| SMART Domains |
Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
AA Change: E43*
| 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 null
Transcript: ENSMUST00000126232
AA Change: E43*
|
| SMART Domains |
Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860
AA Change: E43*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144211
AA Change: E43*
|
| SMART Domains |
Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
AA Change: E43*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175494
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,921,496 (GRCm39) |
I393N |
possibly damaging |
Het |
| Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,745,706 (GRCm39) |
E324K |
possibly damaging |
Het |
| Krt80 |
A |
G |
15: 101,257,384 (GRCm39) |
F183L |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,862,029 (GRCm39) |
F200S |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,309,143 (GRCm39) |
N153S |
possibly damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
| Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
| Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
| Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
| Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,676 (GRCm39) |
D138N |
probably damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
| Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AAACCTTCAGGATTAAGTCACAGAG -3'
(R):5'- TGAACAGTTTGATCTCGCCCC -3'
Sequencing Primer
(F):5'- TTAAGTCACAGAGAAAGAGCTTAGCC -3'
(R):5'- TGATCTCGCCCCACCCAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation