Incidental Mutation 'R5505:Srsf5'
| ID |
430895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srsf5
|
| Ensembl Gene |
ENSMUSG00000021134 |
| Gene Name |
serine and arginine-rich splicing factor 5 |
| Synonyms |
Sfrs5 |
| MMRRC Submission |
043066-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R5505 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80992308-80997277 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 80995857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094693]
[ENSMUST00000095572]
[ENSMUST00000110351]
[ENSMUST00000110352]
[ENSMUST00000110354]
[ENSMUST00000110356]
[ENSMUST00000138434]
[ENSMUST00000218162]
|
| AlphaFold |
O35326 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094693
|
| SMART Domains |
Protein: ENSMUSP00000131323
Gene: ENSMUSG00000021134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
70 |
4.56e-18 |
SMART |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
RRM
|
109 |
177 |
5.58e-13 |
SMART |
|
low complexity region
|
180 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095572
|
| SMART Domains |
Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF
|
32 |
217 |
3.3e-47 |
PFAM |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
transmembrane domain
|
282 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110351
|
| SMART Domains |
Protein: ENSMUSP00000105980
Gene: ENSMUSG00000021134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
70 |
4.56e-18 |
SMART |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
RRM
|
109 |
177 |
5.58e-13 |
SMART |
|
low complexity region
|
180 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110352
|
| SMART Domains |
Protein: ENSMUSP00000105981
Gene: ENSMUSG00000021134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
70 |
4.56e-18 |
SMART |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
RRM
|
109 |
177 |
5.58e-13 |
SMART |
|
low complexity region
|
180 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110354
|
| SMART Domains |
Protein: ENSMUSP00000105983
Gene: ENSMUSG00000021134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
70 |
4.56e-18 |
SMART |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
RRM
|
109 |
177 |
5.58e-13 |
SMART |
|
low complexity region
|
180 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110356
|
| SMART Domains |
Protein: ENSMUSP00000105985
Gene: ENSMUSG00000021134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
70 |
4.56e-18 |
SMART |
|
low complexity region
|
73 |
105 |
N/A |
INTRINSIC |
|
RRM
|
109 |
177 |
5.58e-13 |
SMART |
|
low complexity region
|
180 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219062
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
| Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
| Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
| Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
| Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
| Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
| Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
| Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
| Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
| Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
| Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
| Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
probably benign |
Het |
|
| Other mutations in Srsf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Srsf5
|
APN |
12 |
80,994,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Srsf5
|
UTSW |
12 |
80,994,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0827:Srsf5
|
UTSW |
12 |
80,996,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Srsf5
|
UTSW |
12 |
80,996,519 (GRCm39) |
unclassified |
probably benign |
|
|
R2519:Srsf5
|
UTSW |
12 |
80,995,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4926:Srsf5
|
UTSW |
12 |
80,994,075 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5786:Srsf5
|
UTSW |
12 |
80,996,311 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7810:Srsf5
|
UTSW |
12 |
80,996,720 (GRCm39) |
missense |
unknown |
|
|
R8265:Srsf5
|
UTSW |
12 |
80,994,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8711:Srsf5
|
UTSW |
12 |
80,994,328 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8832:Srsf5
|
UTSW |
12 |
80,996,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGCACAAAATAACTGGTGTC -3'
(R):5'- AGGTGCCTATTATCAACAGTCCC -3'
Sequencing Primer
(F):5'- AAAAATTGGAATGCCCTCTAGC -3'
(R):5'- ATCAACAGTCCCTTGTGATAGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation