Incidental Mutation 'IGL01981:Sphk2'
ID 183506
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sphk2
Ensembl Gene ENSMUSG00000057342
Gene Name sphingosine kinase 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01981
Quality Score
Status
Chromosome 7
Chromosomal Location 45358891-45367426 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45360157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 616 (Q616K)
Ref Sequence ENSEMBL: ENSMUSP00000147391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072836] [ENSMUST00000080885] [ENSMUST00000107737] [ENSMUST00000210060] [ENSMUST00000211357] [ENSMUST00000210640] [ENSMUST00000211513] [ENSMUST00000211340]
AlphaFold Q9JIA7
Predicted Effect probably benign
Transcript: ENSMUST00000072836
AA Change: Q616K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342
AA Change: Q616K

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 benign
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 benign
Transcript: ENSMUST00000107737
AA Change: Q616K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342
AA Change: Q616K

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 benign
Transcript: ENSMUST00000107738
AA Change: Q616K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103367
Gene: ENSMUSG00000057342
AA Change: Q616K

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 benign
Transcript: ENSMUST00000210060
AA Change: Q616K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210120
Predicted Effect probably benign
Transcript: ENSMUST00000211357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211748
Predicted Effect probably benign
Transcript: ENSMUST00000210640
Predicted Effect probably benign
Transcript: ENSMUST00000211513
Predicted Effect probably benign
Transcript: ENSMUST00000211340
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Sphk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01672:Sphk2 APN 7 45,361,077 (GRCm39) missense possibly damaging 0.89
IGL01819:Sphk2 APN 7 45,360,480 (GRCm39) splice site probably null
IGL01943:Sphk2 APN 7 45,360,148 (GRCm39) unclassified probably benign
R0270:Sphk2 UTSW 7 45,360,149 (GRCm39) makesense probably null
R1385:Sphk2 UTSW 7 45,361,715 (GRCm39) missense probably damaging 1.00
R1581:Sphk2 UTSW 7 45,362,920 (GRCm39) missense probably damaging 1.00
R1634:Sphk2 UTSW 7 45,360,964 (GRCm39) missense probably benign 0.03
R2009:Sphk2 UTSW 7 45,360,437 (GRCm39) missense probably damaging 0.99
R4755:Sphk2 UTSW 7 45,363,058 (GRCm39) missense possibly damaging 0.65
R5092:Sphk2 UTSW 7 45,361,777 (GRCm39) critical splice acceptor site probably null
R6407:Sphk2 UTSW 7 45,362,024 (GRCm39) missense possibly damaging 0.63
R7320:Sphk2 UTSW 7 45,361,894 (GRCm39) missense possibly damaging 0.87
R7418:Sphk2 UTSW 7 45,361,180 (GRCm39) missense probably damaging 1.00
R7584:Sphk2 UTSW 7 45,361,931 (GRCm39) missense probably damaging 1.00
R7585:Sphk2 UTSW 7 45,361,006 (GRCm39) missense probably benign
R8560:Sphk2 UTSW 7 45,361,514 (GRCm39) missense probably damaging 1.00
R8701:Sphk2 UTSW 7 45,360,249 (GRCm39) missense probably damaging 1.00
R9228:Sphk2 UTSW 7 45,360,337 (GRCm39) missense possibly damaging 0.88
R9314:Sphk2 UTSW 7 45,361,158 (GRCm39) missense probably damaging 0.99
R9320:Sphk2 UTSW 7 45,361,179 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07