Incidental Mutation 'R4535:Srsf4'
| ID |
333276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srsf4
|
| Ensembl Gene |
ENSMUSG00000028911 |
| Gene Name |
serine and arginine-rich splicing factor 4 |
| Synonyms |
5730499P16Rik, SRp75, MNCb-2616, Sfrs4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R4535 (G1)
|
| Quality Score |
89 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
131600928-131629017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131601175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 34
(K34R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053819]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053819
AA Change: K34R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: K34R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
68 |
4.3e-21 |
SMART |
|
low complexity region
|
71 |
97 |
N/A |
INTRINSIC |
|
RRM
|
105 |
173 |
8.4e-17 |
SMART |
|
low complexity region
|
179 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129966
AA Change: K16R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192689
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
| Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
|
| Other mutations in Srsf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0087:Srsf4
|
UTSW |
4 |
131,627,641 (GRCm39) |
unclassified |
probably benign |
|
|
R1135:Srsf4
|
UTSW |
4 |
131,627,380 (GRCm39) |
unclassified |
probably benign |
|
|
R1209:Srsf4
|
UTSW |
4 |
131,628,370 (GRCm39) |
unclassified |
probably benign |
|
|
R1276:Srsf4
|
UTSW |
4 |
131,624,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1561:Srsf4
|
UTSW |
4 |
131,625,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Srsf4
|
UTSW |
4 |
131,625,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Srsf4
|
UTSW |
4 |
131,627,871 (GRCm39) |
unclassified |
probably benign |
|
|
R2265:Srsf4
|
UTSW |
4 |
131,624,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Srsf4
|
UTSW |
4 |
131,624,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R3724:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R3737:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R3738:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R3739:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R4034:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R4035:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R4049:Srsf4
|
UTSW |
4 |
131,627,854 (GRCm39) |
unclassified |
probably benign |
|
|
R4810:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R4833:Srsf4
|
UTSW |
4 |
131,627,413 (GRCm39) |
unclassified |
probably benign |
|
|
R4932:Srsf4
|
UTSW |
4 |
131,618,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5291:Srsf4
|
UTSW |
4 |
131,613,617 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5725:Srsf4
|
UTSW |
4 |
131,628,262 (GRCm39) |
unclassified |
probably benign |
|
|
R6145:Srsf4
|
UTSW |
4 |
131,627,605 (GRCm39) |
unclassified |
probably benign |
|
|
R7056:Srsf4
|
UTSW |
4 |
131,628,004 (GRCm39) |
unclassified |
probably benign |
|
|
R7294:Srsf4
|
UTSW |
4 |
131,627,772 (GRCm39) |
missense |
unknown |
|
|
R7964:Srsf4
|
UTSW |
4 |
131,618,544 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8697:Srsf4
|
UTSW |
4 |
131,628,042 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACGTGCTGCAGCTGT -3'
(R):5'- CATAGTCCAGCGACGGAAA -3'
Sequencing Primer
(F):5'- TGCAGCTGTCGCTCACTCG -3'
(R):5'- AGTCTAACCCGGGCCTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation