Incidental Mutation 'R4753:Clasrp'
| ID |
357732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clasrp
|
| Ensembl Gene |
ENSMUSG00000061028 |
| Gene Name |
CLK4-associating serine/arginine rich protein |
| Synonyms |
SWAP2, Sfrs16, Srsf16 |
| MMRRC Submission |
041971-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19314960-19338411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19328865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 89
(I89N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086041]
[ENSMUST00000207524]
[ENSMUST00000207663]
[ENSMUST00000207907]
[ENSMUST00000208068]
|
| AlphaFold |
Q8CFC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086041
AA Change: I89N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: I89N
| 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: ENSMUST00000180681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207325
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207524
AA Change: I89N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207663
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207907
AA Change: I89N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208068
AA Change: I89N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208464
|
| Meta Mutation Damage Score |
0.7557 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (57/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
T |
A |
13: 112,500,009 (GRCm39) |
D257E |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,494,938 (GRCm39) |
V399A |
probably damaging |
Het |
| Atp8b5 |
C |
T |
4: 43,372,710 (GRCm39) |
P1117S |
probably damaging |
Het |
| Cd48 |
A |
G |
1: 171,527,156 (GRCm39) |
Q194R |
probably damaging |
Het |
| Cdk13 |
G |
A |
13: 17,937,833 (GRCm39) |
R737C |
probably damaging |
Het |
| Clrn1 |
G |
T |
3: 58,792,318 (GRCm39) |
N48K |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,043,451 (GRCm39) |
V1313E |
possibly damaging |
Het |
| Cyld |
T |
A |
8: 89,471,444 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dtl |
T |
C |
1: 191,301,815 (GRCm39) |
T81A |
probably damaging |
Het |
| Dus1l |
C |
T |
11: 120,682,901 (GRCm39) |
E299K |
probably benign |
Het |
| E130114P18Rik |
A |
T |
4: 97,463,129 (GRCm39) |
D14E |
possibly damaging |
Het |
| Fam83g |
C |
A |
11: 61,586,095 (GRCm39) |
H228N |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 25,223,382 (GRCm39) |
K909N |
possibly damaging |
Het |
| Fign |
T |
A |
2: 63,809,363 (GRCm39) |
I636L |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,349,519 (GRCm39) |
E346G |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,126,204 (GRCm39) |
Y1271H |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,754,537 (GRCm39) |
V2379A |
probably benign |
Het |
| Grin2d |
G |
T |
7: 45,483,330 (GRCm39) |
P949Q |
probably damaging |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,762 (GRCm39) |
M53I |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,822,875 (GRCm39) |
*97W |
probably null |
Het |
| Jade1 |
C |
T |
3: 41,551,106 (GRCm39) |
R2* |
probably null |
Het |
| Lama3 |
G |
T |
18: 12,615,141 (GRCm39) |
C1355F |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,710,752 (GRCm39) |
S12P |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,696,608 (GRCm39) |
T402A |
probably benign |
Het |
| Mill1 |
A |
C |
7: 17,996,472 (GRCm39) |
K96T |
probably benign |
Het |
| Muc19 |
T |
G |
15: 91,761,955 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5b |
C |
A |
7: 141,410,590 (GRCm39) |
T1321N |
unknown |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or1ad1 |
T |
C |
11: 50,875,978 (GRCm39) |
V150A |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,677 (GRCm39) |
I214F |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,342,185 (GRCm39) |
P669S |
probably damaging |
Het |
| Procr |
A |
G |
2: 155,595,384 (GRCm39) |
N63D |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,518,799 (GRCm39) |
S2136P |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,769 (GRCm39) |
M677V |
probably benign |
Het |
| Rad52 |
T |
A |
6: 119,889,946 (GRCm39) |
|
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,436,509 (GRCm39) |
|
probably null |
Het |
| Rogdi |
T |
C |
16: 4,828,363 (GRCm39) |
T189A |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,799,845 (GRCm39) |
T38M |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,707 (GRCm39) |
V655E |
possibly damaging |
Het |
| Sik3 |
T |
C |
9: 46,109,512 (GRCm39) |
F499L |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,728 (GRCm39) |
N387S |
probably benign |
Het |
| Slc6a12 |
C |
T |
6: 121,333,862 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,665,255 (GRCm39) |
T667A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,053,212 (GRCm39) |
I3378V |
probably benign |
Het |
| Thnsl1 |
C |
T |
2: 21,218,175 (GRCm39) |
T122I |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,075,889 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,914,909 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Tril |
A |
G |
6: 53,796,698 (GRCm39) |
F175L |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,613,140 (GRCm39) |
Y604C |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,074 (GRCm39) |
M736L |
probably benign |
Het |
| Zscan10 |
A |
C |
17: 23,826,208 (GRCm39) |
E123D |
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 |
|
|
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 |
|
|
R5794:Clasrp
|
UTSW |
7 |
19,325,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCTCGTAGTTACATTTCCGC -3'
(R):5'- ACCCCAGGTGTAGATTTGGG -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAATTCCAGG -3'
(R):5'- CCAGGTGTAGATTTGGGTGAATGAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation