Incidental Mutation 'IGL03198:Srek1'
| ID |
412914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srek1
|
| Ensembl Gene |
ENSMUSG00000032621 |
| Gene Name |
splicing regulatory glutamine/lysine-rich protein 1 |
| Synonyms |
SRrp86, Sfrs12, AL118220, SRrp508 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
IGL03198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
103875856-103911116 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 103881443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074616]
[ENSMUST00000074616]
[ENSMUST00000210489]
[ENSMUST00000210489]
|
| AlphaFold |
Q8BZX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074616
|
| SMART Domains |
Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
RRM
|
70 |
141 |
1.22e-18 |
SMART |
|
coiled coil region
|
259 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000074616
|
| SMART Domains |
Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
RRM
|
70 |
141 |
1.22e-18 |
SMART |
|
coiled coil region
|
259 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210269
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210489
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211491
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
| Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
| Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
| Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
| Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
| Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
| Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
possibly damaging |
Het |
|
| Other mutations in Srek1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01756:Srek1
|
APN |
13 |
103,897,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Srek1
|
APN |
13 |
103,885,293 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03029:Srek1
|
APN |
13 |
103,900,468 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03284:Srek1
|
APN |
13 |
103,897,045 (GRCm39) |
missense |
probably damaging |
0.96 |
|
inscruitable
|
UTSW |
13 |
103,910,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Srek1
|
UTSW |
13 |
103,881,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0080:Srek1
|
UTSW |
13 |
103,880,194 (GRCm39) |
missense |
unknown |
|
|
R0082:Srek1
|
UTSW |
13 |
103,880,194 (GRCm39) |
missense |
unknown |
|
|
R0106:Srek1
|
UTSW |
13 |
103,880,131 (GRCm39) |
missense |
unknown |
|
|
R0106:Srek1
|
UTSW |
13 |
103,880,131 (GRCm39) |
missense |
unknown |
|
|
R0506:Srek1
|
UTSW |
13 |
103,897,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0569:Srek1
|
UTSW |
13 |
103,885,370 (GRCm39) |
unclassified |
probably benign |
|
|
R0969:Srek1
|
UTSW |
13 |
103,889,011 (GRCm39) |
unclassified |
probably benign |
|
|
R1617:Srek1
|
UTSW |
13 |
103,880,112 (GRCm39) |
missense |
unknown |
|
|
R2098:Srek1
|
UTSW |
13 |
103,881,363 (GRCm39) |
missense |
unknown |
|
|
R2423:Srek1
|
UTSW |
13 |
103,889,536 (GRCm39) |
nonsense |
probably null |
|
|
R3950:Srek1
|
UTSW |
13 |
103,881,403 (GRCm39) |
missense |
unknown |
|
|
R4347:Srek1
|
UTSW |
13 |
103,885,267 (GRCm39) |
missense |
probably null |
|
|
R4676:Srek1
|
UTSW |
13 |
103,894,695 (GRCm39) |
splice site |
probably benign |
|
|
R4915:Srek1
|
UTSW |
13 |
103,889,194 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4915:Srek1
|
UTSW |
13 |
103,889,071 (GRCm39) |
unclassified |
probably benign |
|
|
R5119:Srek1
|
UTSW |
13 |
103,889,064 (GRCm39) |
unclassified |
probably benign |
|
|
R5677:Srek1
|
UTSW |
13 |
103,895,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6135:Srek1
|
UTSW |
13 |
103,910,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Srek1
|
UTSW |
13 |
103,880,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7406:Srek1
|
UTSW |
13 |
103,905,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8537:Srek1
|
UTSW |
13 |
103,888,957 (GRCm39) |
unclassified |
probably benign |
|
|
R9269:Srek1
|
UTSW |
13 |
103,889,654 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation