Incidental Mutation 'IGL01819:Sphk2'
ID154458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sphk2
Ensembl Gene ENSMUSG00000057342
Gene Namesphingosine kinase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01819
Quality Score
Status
Chromosome7
Chromosomal Location45709467-45718002 bp(-) (GRCm38)
Type of Mutationsplice site (942 bp from exon)
DNA Base Change (assembly) A to G at 45711056 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072836] [ENSMUST00000080885] [ENSMUST00000107737] [ENSMUST00000210060] [ENSMUST00000210640] [ENSMUST00000211340] [ENSMUST00000211357] [ENSMUST00000211513]
Predicted Effect probably damaging
Transcript: ENSMUST00000072836
AA Change: I508T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342
AA Change: I508T

DomainStartEndE-ValueType
SCOP:d1epfa2 63 87 1e-2 SMART
DAGKc 147 284 4.49e-5 SMART
low complexity region 369 376 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
PDB:3VZB|C 468 609 4e-25 PDB
Predicted Effect probably null
Transcript: ENSMUST00000080885
SMART Domains Protein: ENSMUSP00000079693
Gene: ENSMUSG00000059824

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
low complexity region 71 98 N/A INTRINSIC
low complexity region 127 171 N/A INTRINSIC
BRLZ 253 317 5.17e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107737
AA Change: I508T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342
AA Change: I508T

DomainStartEndE-ValueType
SCOP:d1epfa2 63 87 1e-2 SMART
DAGKc 147 284 4.49e-5 SMART
low complexity region 369 376 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
PDB:3VZB|C 468 609 4e-25 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000210060
AA Change: I508T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210120
Predicted Effect probably benign
Transcript: ENSMUST00000210640
Predicted Effect probably benign
Transcript: ENSMUST00000211340
Predicted Effect probably null
Transcript: ENSMUST00000211357
Predicted Effect probably null
Transcript: ENSMUST00000211513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211748
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a kinase that phosphorylates sphingosine into sphingosine-1-phosphate, which is involved in cell differentiation, motility, and apoptosis. The encoded protein plays a role in maintaining cellular levels of sphingosine-1-phosphate. The gene product also enhances apoptosis in different cell types and suppresses cellular proliferation. In mast cells, the encoded protein is necessary for influx of calcium, protein kinase C activation, and cytokine production and degranulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Sphk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Sphk2 APN 7 45711653 missense possibly damaging 0.89
IGL01943:Sphk2 APN 7 45710724 unclassified probably benign
IGL01981:Sphk2 APN 7 45710733 missense probably benign 0.01
R0270:Sphk2 UTSW 7 45710725 makesense probably null
R1385:Sphk2 UTSW 7 45712291 missense probably damaging 1.00
R1581:Sphk2 UTSW 7 45713496 missense probably damaging 1.00
R1634:Sphk2 UTSW 7 45711540 missense probably benign 0.03
R2009:Sphk2 UTSW 7 45711013 missense probably damaging 0.99
R4755:Sphk2 UTSW 7 45713634 missense possibly damaging 0.65
R5092:Sphk2 UTSW 7 45712353 critical splice acceptor site probably null
R6407:Sphk2 UTSW 7 45712600 missense possibly damaging 0.63
R7320:Sphk2 UTSW 7 45712470 missense possibly damaging 0.87
R7418:Sphk2 UTSW 7 45711756 missense probably damaging 1.00
R7584:Sphk2 UTSW 7 45712507 missense probably damaging 1.00
R7585:Sphk2 UTSW 7 45711582 missense probably benign
Posted On2014-02-04