Incidental Mutation 'IGL03100:Srsf1'
| ID |
418694 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srsf1
|
| Ensembl Gene |
ENSMUSG00000018379 |
| Gene Name |
serine and arginine-rich splicing factor 1 |
| Synonyms |
1110054N12Rik, 6330415C05Rik, 5730507C05Rik, Sfrs1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87938199-87944581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87939954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 155
(D155E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079866]
[ENSMUST00000107920]
[ENSMUST00000139129]
|
| AlphaFold |
Q6PDM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079866
AA Change: D155E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379
AA Change: D155E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
87 |
2.85e-19 |
SMART |
|
low complexity region
|
89 |
119 |
N/A |
INTRINSIC |
|
RRM
|
122 |
188 |
4.97e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107920
AA Change: D155E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379
AA Change: D155E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
87 |
2.85e-19 |
SMART |
|
low complexity region
|
89 |
119 |
N/A |
INTRINSIC |
|
RRM
|
122 |
188 |
1.39e-8 |
SMART |
|
low complexity region
|
196 |
246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132983
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134824
AA Change: D64E
|
| SMART Domains |
Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379
AA Change: D64E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
RRM
|
32 |
98 |
1.43e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139129
AA Change: D155E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: D155E
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
87 |
2.85e-19 |
SMART |
|
low complexity region
|
89 |
119 |
N/A |
INTRINSIC |
|
RRM
|
122 |
188 |
1.39e-8 |
SMART |
|
low complexity region
|
196 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172186
|
| SMART Domains |
Protein: ENSMUSP00000128190
Gene: ENSMUSG00000018379
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fjeb2
|
17 |
43 |
5e-3 |
SMART |
|
PDB:2M8D|B
|
22 |
47 |
8e-12 |
PDB |
|
Blast:RRM
|
25 |
47 |
1e-8 |
BLAST |
|
| Coding Region Coverage |
|
| 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,208,527 (GRCm39) |
R233S |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,640,270 (GRCm39) |
W73R |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,964 (GRCm39) |
V247A |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,486,109 (GRCm39) |
T538S |
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,625,329 (GRCm39) |
K228R |
probably benign |
Het |
| Atp6v0d2 |
C |
T |
4: 19,910,586 (GRCm39) |
|
probably null |
Het |
| B3gat2 |
A |
T |
1: 23,802,272 (GRCm39) |
D186V |
probably damaging |
Het |
| Bmpr1a |
A |
T |
14: 34,163,164 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,175 (GRCm39) |
D224G |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,770,303 (GRCm39) |
M463V |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,626 (GRCm39) |
I188T |
possibly damaging |
Het |
| Cldn17 |
G |
T |
16: 88,303,489 (GRCm39) |
A80E |
probably damaging |
Het |
| Clptm1l |
A |
G |
13: 73,760,509 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,814,512 (GRCm39) |
V500E |
unknown |
Het |
| Ctdspl2 |
C |
T |
2: 121,809,394 (GRCm39) |
T115I |
probably benign |
Het |
| Dbh |
G |
T |
2: 27,055,534 (GRCm39) |
A3S |
probably benign |
Het |
| Fgd4 |
A |
G |
16: 16,295,383 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
T |
A |
19: 12,602,083 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,461,751 (GRCm39) |
M551T |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,253,608 (GRCm39) |
T58A |
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,527,682 (GRCm39) |
K890R |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,446 (GRCm39) |
H809R |
possibly damaging |
Het |
| Knl1 |
A |
G |
2: 118,931,251 (GRCm39) |
E1989G |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,561,939 (GRCm39) |
D125G |
probably damaging |
Het |
| Ogdhl |
A |
T |
14: 32,064,029 (GRCm39) |
M632L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,531,499 (GRCm39) |
I1374T |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,046,243 (GRCm39) |
N670K |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,018 (GRCm39) |
H590R |
probably damaging |
Het |
| Scara3 |
A |
C |
14: 66,168,722 (GRCm39) |
H298Q |
probably damaging |
Het |
| Sirt3 |
T |
C |
7: 140,445,030 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc13a2 |
T |
C |
11: 78,295,299 (GRCm39) |
Q158R |
probably damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,949,504 (GRCm39) |
T629S |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,528 (GRCm39) |
K157E |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,203,019 (GRCm39) |
R534H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,992 (GRCm39) |
|
probably benign |
Het |
| Ube2m |
A |
G |
7: 12,771,562 (GRCm39) |
L32P |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,044,681 (GRCm39) |
F179I |
possibly damaging |
Het |
| Zfp961 |
T |
C |
8: 72,721,754 (GRCm39) |
*69Q |
probably null |
Het |
|
| Other mutations in Srsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01365:Srsf1
|
APN |
11 |
87,940,007 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02949:Srsf1
|
APN |
11 |
87,940,352 (GRCm39) |
intron |
probably benign |
|
|
R4898:Srsf1
|
UTSW |
11 |
87,940,788 (GRCm39) |
splice site |
probably null |
|
|
R5261:Srsf1
|
UTSW |
11 |
87,938,684 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5328:Srsf1
|
UTSW |
11 |
87,940,819 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5593:Srsf1
|
UTSW |
11 |
87,938,705 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5849:Srsf1
|
UTSW |
11 |
87,938,684 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6143:Srsf1
|
UTSW |
11 |
87,940,425 (GRCm39) |
intron |
probably benign |
|
|
R7151:Srsf1
|
UTSW |
11 |
87,940,084 (GRCm39) |
nonsense |
probably null |
|
|
R8099:Srsf1
|
UTSW |
11 |
87,940,082 (GRCm39) |
missense |
probably benign |
|
|
R8294:Srsf1
|
UTSW |
11 |
87,939,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation