Incidental Mutation 'R3622:Srsf9'
| ID |
268665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srsf9
|
| Ensembl Gene |
ENSMUSG00000029538 |
| Gene Name |
serine and arginine-rich splicing factor 9 |
| Synonyms |
2610029M16Rik, SRp30c, Sfrs9 |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
115465236-115471139 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115468571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 69
(A69V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031513]
[ENSMUST00000139167]
[ENSMUST00000149510]
|
| AlphaFold |
Q9D0B0 |
| PDB Structure |
Solution structure of RRM domain in protein BAB31986 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031513
AA Change: A69V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: A69V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
16 |
86 |
3.76e-19 |
SMART |
|
RRM
|
113 |
179 |
1.19e-7 |
SMART |
|
low complexity region
|
187 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139167
|
| SMART Domains |
Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glu-tRNAGln
|
69 |
134 |
2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149510
|
| SMART Domains |
Protein: ENSMUSP00000121845
Gene: ENSMUSG00000029538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
RRM
|
54 |
115 |
3.04e-2 |
SMART |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209604
|
| Meta Mutation Damage Score |
0.6753 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| 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, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
Het |
|
| Other mutations in Srsf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Srsf9
|
APN |
5 |
115,470,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Srsf9
|
UTSW |
5 |
115,470,260 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0603:Srsf9
|
UTSW |
5 |
115,470,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1565:Srsf9
|
UTSW |
5 |
115,465,429 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1781:Srsf9
|
UTSW |
5 |
115,465,481 (GRCm39) |
nonsense |
probably null |
|
|
R2942:Srsf9
|
UTSW |
5 |
115,470,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Srsf9
|
UTSW |
5 |
115,465,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4492:Srsf9
|
UTSW |
5 |
115,470,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Srsf9
|
UTSW |
5 |
115,468,595 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5840:Srsf9
|
UTSW |
5 |
115,469,524 (GRCm39) |
missense |
probably benign |
|
|
R6355:Srsf9
|
UTSW |
5 |
115,465,368 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R7207:Srsf9
|
UTSW |
5 |
115,465,481 (GRCm39) |
nonsense |
probably null |
|
|
R7672:Srsf9
|
UTSW |
5 |
115,468,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Srsf9
|
UTSW |
5 |
115,465,492 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8871:Srsf9
|
UTSW |
5 |
115,468,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCAGCTGTCAAACTTTG -3'
(R):5'- ACACTTCCTTGAAGGCTAGACTC -3'
Sequencing Primer
(F):5'- ACTTTGAGTAATGTGAACGGCCC -3'
(R):5'- ACTCTCGTTCAGCAAAGTGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation