Incidental Mutation 'IGL02394:Clasrp'
ID293917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clasrp
Ensembl Gene ENSMUSG00000061028
Gene NameCLK4-associating serine/arginine rich protein
SynonymsSrsf16, Sfrs16, SWAP2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02394
Quality Score
Status
Chromosome7
Chromosomal Location19581035-19604486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19603254 bp
ZygosityHeterozygous
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] [ENSMUST00000207524] [ENSMUST00000207663] [ENSMUST00000207907] [ENSMUST00000208068] [ENSMUST00000208087]
Predicted Effect probably benign
Transcript: ENSMUST00000049912
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000180681
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: ENSMUST00000207907
AA Change: L12P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208068
AA Change: L12P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000208087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208464
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 177,059,419 T288M probably damaging Het
Baat A T 4: 49,489,812 probably benign Het
Bclaf3 A G X: 159,555,489 Y444C probably damaging Het
Bcs1l A G 1: 74,590,300 T166A probably damaging Het
Cep135 C T 5: 76,631,471 T776I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp4f15 A G 17: 32,692,635 I164V possibly damaging Het
Eps15 T A 4: 109,312,965 L155M probably damaging Het
Fbxl20 G A 11: 98,113,256 R69W probably damaging Het
Galnt9 A G 5: 110,615,499 M457V probably damaging Het
Gemin2 T A 12: 59,014,056 probably null Het
Gm20521 T A 14: 54,898,042 Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 C178S probably benign Het
Gpr37l1 T C 1: 135,167,008 N166S probably damaging Het
Gpr45 A G 1: 43,030,112 probably benign Het
Gpr75 T C 11: 30,892,190 I365T possibly damaging Het
Gsdmc2 T C 15: 63,835,880 R22G probably damaging Het
Il23r T C 6: 67,466,272 probably benign Het
Itgam A T 7: 128,084,942 T340S probably benign Het
Klk1b24 A G 7: 44,191,870 D209G possibly damaging Het
Med13l A C 5: 118,748,833 T1600P probably benign Het
Muc16 G T 9: 18,498,700 H137Q probably damaging Het
Nin T C 12: 70,044,031 E870G probably damaging Het
Olfr1477 A G 19: 13,502,864 N174D probably damaging Het
Olfr360 A G 2: 37,068,485 Y60C probably damaging Het
Olfr811 A T 10: 129,802,313 F71I possibly damaging Het
Pkhd1 T C 1: 20,199,486 K3278R possibly damaging Het
Prlr A G 15: 10,328,578 N380D probably benign Het
Rpgr A C X: 10,166,217 S582R probably benign Het
Rph3a T C 5: 120,946,348 probably null Het
Setd5 A G 6: 113,110,898 H140R probably benign Het
Stoml3 C A 3: 53,498,119 probably benign Het
Teddm1a A C 1: 153,891,799 D3A probably benign Het
Tmem207 A G 16: 26,516,836 probably benign Het
Triml1 T A 8: 43,138,592 Q243L possibly damaging Het
Usp5 G A 6: 124,822,709 T274M probably damaging Het
Vav2 A G 2: 27,297,659 probably benign Het
Wdr5b A G 16: 36,042,263 N251D probably damaging Het
Wnk2 C A 13: 49,081,899 probably null Het
Other mutations in Clasrp
AlleleSourceChrCoordTypePredicted EffectPPH Score
clarissa UTSW 7 19590248 missense possibly damaging 0.82
suet UTSW 7 19586468 utr 3 prime probably benign
R0518:Clasrp UTSW 7 19588603 missense probably benign 0.32
R0519:Clasrp UTSW 7 19584164 utr 3 prime probably benign
R0521:Clasrp UTSW 7 19588603 missense probably benign 0.32
R0626:Clasrp UTSW 7 19584493 utr 3 prime probably benign
R0826:Clasrp UTSW 7 19584301 utr 3 prime probably benign
R1918:Clasrp UTSW 7 19585263 nonsense probably null
R2044:Clasrp UTSW 7 19586715 utr 3 prime probably benign
R2256:Clasrp UTSW 7 19586585 utr 3 prime probably benign
R2257:Clasrp UTSW 7 19586585 utr 3 prime probably benign
R2870:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R2870:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R2871:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R2871:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R2940:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R3408:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R3691:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R4168:Clasrp UTSW 7 19581154 unclassified probably benign
R4496:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R4505:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R4507:Clasrp UTSW 7 19585240 utr 3 prime probably benign
R4572:Clasrp UTSW 7 19584464 splice site probably null
R4753:Clasrp UTSW 7 19594940 missense probably damaging 1.00
R4871:Clasrp UTSW 7 19590248 missense possibly damaging 0.82
R4938:Clasrp UTSW 7 19584778 splice site probably null
R5538:Clasrp UTSW 7 19584782 utr 3 prime probably benign
R5582:Clasrp UTSW 7 19586856 missense probably damaging 0.97
R5615:Clasrp UTSW 7 19586447 utr 3 prime probably benign
R5794:Clasrp UTSW 7 19591109 missense probably damaging 0.99
R5944:Clasrp UTSW 7 19594506 missense probably damaging 1.00
R6102:Clasrp UTSW 7 19586468 utr 3 prime probably benign
R6171:Clasrp UTSW 7 19584822 splice site probably benign
R6485:Clasrp UTSW 7 19586369 utr 3 prime probably benign
R6600:Clasrp UTSW 7 19590282 nonsense probably null
Posted On2015-04-16