Incidental Mutation 'IGL02394:Clasrp'
| ID |
293917 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clasrp
|
| Ensembl Gene |
ENSMUSG00000061028 |
| Gene Name |
CLK4-associating serine/arginine rich protein |
| Synonyms |
SWAP2, Sfrs16, Srsf16 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19314960-19338411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19337179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 12
(L12P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049912]
[ENSMUST00000086041]
[ENSMUST00000094762]
[ENSMUST00000098754]
[ENSMUST00000207907]
[ENSMUST00000207524]
[ENSMUST00000207663]
[ENSMUST00000208068]
[ENSMUST00000208087]
|
| AlphaFold |
Q8CFC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049912
|
| SMART Domains |
Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
102 |
270 |
1.3e-65 |
PFAM |
|
IPT
|
277 |
373 |
1.26e-24 |
SMART |
|
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086041
AA Change: L12P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: L12P
| 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 |
probably benign
Transcript: ENSMUST00000094762
|
| SMART Domains |
Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RelB_leu_zip
|
1 |
84 |
1.2e-43 |
PFAM |
|
Pfam:RHD_DNA_bind
|
105 |
273 |
3.7e-66 |
PFAM |
|
IPT
|
280 |
376 |
1.26e-24 |
SMART |
|
Pfam:RelB_transactiv
|
381 |
558 |
3.2e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098754
|
| SMART Domains |
Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
85 |
N/A |
INTRINSIC |
|
Pfam:RHD
|
105 |
273 |
3.7e-66 |
PFAM |
|
IPT
|
280 |
376 |
1.26e-24 |
SMART |
|
low complexity region
|
452 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148040
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207907
AA Change: L12P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207524
AA Change: L12P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207663
AA Change: L12P
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208068
AA Change: L12P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180681
|
| Coding Region Coverage |
|
| 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 |
|---|
| Akt3 |
G |
A |
1: 176,886,985 (GRCm39) |
T288M |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,489,812 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
A |
G |
X: 158,338,485 (GRCm39) |
Y444C |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,459 (GRCm39) |
T166A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,779,318 (GRCm39) |
T776I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,911,609 (GRCm39) |
I164V |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,170,162 (GRCm39) |
L155M |
probably damaging |
Het |
| Fbxl20 |
G |
A |
11: 98,004,082 (GRCm39) |
R69W |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gemin2 |
T |
A |
12: 59,060,842 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,135,499 (GRCm39) |
Y175N |
probably damaging |
Het |
| Gm3298 |
T |
A |
14: 5,018,778 (GRCm38) |
C178S |
probably benign |
Het |
| Gpr37l1 |
T |
C |
1: 135,094,746 (GRCm39) |
N166S |
probably damaging |
Het |
| Gpr45 |
A |
G |
1: 43,069,272 (GRCm39) |
|
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,842,190 (GRCm39) |
I365T |
possibly damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,707,729 (GRCm39) |
R22G |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,443,256 (GRCm39) |
|
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,841,294 (GRCm39) |
D209G |
possibly damaging |
Het |
| Med13l |
A |
C |
5: 118,886,898 (GRCm39) |
T1600P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,409,996 (GRCm39) |
H137Q |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,090,805 (GRCm39) |
E870G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,497 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,228 (GRCm39) |
N174D |
probably damaging |
Het |
| Or6c215 |
A |
T |
10: 129,638,182 (GRCm39) |
F71I |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,269,710 (GRCm39) |
K3278R |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,664 (GRCm39) |
N380D |
probably benign |
Het |
| Rpgr |
A |
C |
X: 10,032,456 (GRCm39) |
S582R |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,084,411 (GRCm39) |
|
probably null |
Het |
| Setd5 |
A |
G |
6: 113,087,859 (GRCm39) |
H140R |
probably benign |
Het |
| Stoml3 |
C |
A |
3: 53,405,540 (GRCm39) |
|
probably benign |
Het |
| Teddm1a |
A |
C |
1: 153,767,545 (GRCm39) |
D3A |
probably benign |
Het |
| Tmem207 |
A |
G |
16: 26,335,586 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
T |
A |
8: 43,591,629 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Usp5 |
G |
A |
6: 124,799,672 (GRCm39) |
T274M |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,187,671 (GRCm39) |
|
probably benign |
Het |
| Wdr5b |
A |
G |
16: 35,862,633 (GRCm39) |
N251D |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,235,375 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Clasrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation