Incidental Mutation 'R0080:Srek1'
| ID |
44257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srek1
|
| Ensembl Gene |
ENSMUSG00000032621 |
| Gene Name |
splicing regulatory glutamine/lysine-rich protein 1 |
| Synonyms |
SRrp86, Sfrs12, AL118220, SRrp508 |
| MMRRC Submission |
038367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R0080 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
103875856-103911116 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103880194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 455
(T455A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074616]
[ENSMUST00000210489]
|
| AlphaFold |
Q8BZX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000074616
AA Change: T571A
|
| SMART Domains |
Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: T571A
| 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 |
unknown
Transcript: ENSMUST00000210489
AA Change: T455A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211491
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
| Validation Efficiency |
88% (175/200) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
| Coro7 |
A |
T |
16: 4,448,328 (GRCm39) |
L714Q |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
| Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gnb5 |
A |
T |
9: 75,221,636 (GRCm39) |
E28V |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,606,723 (GRCm39) |
S474P |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
| Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
| Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
| Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
| Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
| Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
| Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
| Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
| Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
probably 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 |
|
|
IGL03198:Srek1
|
APN |
13 |
103,881,443 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGCTTTGGGTTTGATCCCGC -3'
(R):5'- GGCAGAATTTGGACTGCTTTTCACG -3'
Sequencing Primer
(F):5'- TTTGATCCCGCCGTGGAG -3'
(R):5'- tcagaaatccgcctgcc -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation