Incidental Mutation 'R5794:Clasrp'
| ID |
447118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clasrp
|
| Ensembl Gene |
ENSMUSG00000061028 |
| Gene Name |
CLK4-associating serine/arginine rich protein |
| Synonyms |
SWAP2, Sfrs16, Srsf16 |
| MMRRC Submission |
043385-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5794 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19314960-19338411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19325034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 198
(D198E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086041]
[ENSMUST00000207524]
[ENSMUST00000207663]
[ENSMUST00000207907]
[ENSMUST00000208068]
|
| AlphaFold |
Q8CFC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086041
AA Change: D198E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: D198E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
|
DRY_EERY
|
39 |
171 |
1.28e-64 |
SMART |
|
low complexity region
|
172 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
532 |
N/A |
INTRINSIC |
|
coiled coil region
|
574 |
630 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207325
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207524
AA Change: D198E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207663
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207907
AA Change: D198E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208068
AA Change: D198E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208464
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene contains serine/arginine (SR) dipeptide repeat domains, and is thought to be involved in the regulation of alternative splicing. This protein is thought to interact with, and be phosphorylated by, Clk4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,955 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
| Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
| Fbxw20 |
T |
C |
9: 109,052,358 (GRCm39) |
N325S |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,062,668 (GRCm39) |
C53S |
possibly damaging |
Het |
| Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,064 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
| Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,069 (GRCm39) |
N29I |
probably damaging |
Het |
| Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
| Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
| Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
| Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
| Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
| Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
| Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,362,318 (GRCm39) |
D125E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
| Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
| Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
| Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,590 (GRCm39) |
Y32F |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
probably damaging |
Het |
|
| Other mutations in Clasrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02394:Clasrp
|
APN |
7 |
19,337,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
clarissa
|
UTSW |
7 |
19,324,173 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
suet
|
UTSW |
7 |
19,320,393 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0518:Clasrp
|
UTSW |
7 |
19,322,528 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0519:Clasrp
|
UTSW |
7 |
19,318,089 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0521:Clasrp
|
UTSW |
7 |
19,322,528 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0626:Clasrp
|
UTSW |
7 |
19,318,418 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0826:Clasrp
|
UTSW |
7 |
19,318,226 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1918:Clasrp
|
UTSW |
7 |
19,319,188 (GRCm39) |
nonsense |
probably null |
|
|
R2044:Clasrp
|
UTSW |
7 |
19,320,640 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2256:Clasrp
|
UTSW |
7 |
19,320,510 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2257:Clasrp
|
UTSW |
7 |
19,320,510 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2870:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2870:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2871:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2871:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2940:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3408:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3691:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4168:Clasrp
|
UTSW |
7 |
19,315,079 (GRCm39) |
unclassified |
probably benign |
|
|
R4496:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4505:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4507:Clasrp
|
UTSW |
7 |
19,319,165 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4572:Clasrp
|
UTSW |
7 |
19,318,389 (GRCm39) |
splice site |
probably null |
|
|
R4753:Clasrp
|
UTSW |
7 |
19,328,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Clasrp
|
UTSW |
7 |
19,324,173 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4938:Clasrp
|
UTSW |
7 |
19,318,703 (GRCm39) |
splice site |
probably null |
|
|
R5538:Clasrp
|
UTSW |
7 |
19,318,707 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5582:Clasrp
|
UTSW |
7 |
19,320,781 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5615:Clasrp
|
UTSW |
7 |
19,320,372 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5944:Clasrp
|
UTSW |
7 |
19,328,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Clasrp
|
UTSW |
7 |
19,320,393 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6171:Clasrp
|
UTSW |
7 |
19,318,747 (GRCm39) |
splice site |
probably benign |
|
|
R6485:Clasrp
|
UTSW |
7 |
19,320,294 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6600:Clasrp
|
UTSW |
7 |
19,324,207 (GRCm39) |
nonsense |
probably null |
|
|
R7383:Clasrp
|
UTSW |
7 |
19,319,198 (GRCm39) |
missense |
unknown |
|
|
R7719:Clasrp
|
UTSW |
7 |
19,321,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7750:Clasrp
|
UTSW |
7 |
19,318,516 (GRCm39) |
makesense |
probably null |
|
|
R7808:Clasrp
|
UTSW |
7 |
19,322,671 (GRCm39) |
splice site |
probably null |
|
|
R8192:Clasrp
|
UTSW |
7 |
19,329,387 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8820:Clasrp
|
UTSW |
7 |
19,320,362 (GRCm39) |
missense |
unknown |
|
|
R8821:Clasrp
|
UTSW |
7 |
19,320,362 (GRCm39) |
missense |
unknown |
|
|
R8924:Clasrp
|
UTSW |
7 |
19,318,232 (GRCm39) |
missense |
unknown |
|
|
R9471:Clasrp
|
UTSW |
7 |
19,319,172 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTAGAACAGTGCCCAGAAATG -3'
(R):5'- ATGTGTAACCACTGTGGGGC -3'
Sequencing Primer
(F):5'- CACATGGGATAGGGGACAGGC -3'
(R):5'- TAACCACTGTGGGGCTCACC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation