Incidental Mutation 'IGL01943:Sphk2'
ID 180943
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 # IGL01943
Quality Score
Status
Chromosome 7
Chromosomal Location 45358891-45367426 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 45360148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072836] [ENSMUST00000080885] [ENSMUST00000107737] [ENSMUST00000210060] [ENSMUST00000210640] [ENSMUST00000211513] [ENSMUST00000211340] [ENSMUST00000211357]
AlphaFold Q9JIA7
Predicted Effect probably benign
Transcript: ENSMUST00000072836
SMART Domains Protein: ENSMUSP00000072615
Gene: ENSMUSG00000057342

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
SMART Domains Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210120
Predicted Effect probably benign
Transcript: ENSMUST00000210640
Predicted Effect probably benign
Transcript: ENSMUST00000211513
Predicted Effect probably benign
Transcript: ENSMUST00000211340
Predicted Effect probably benign
Transcript: ENSMUST00000211357
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) 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
IGL01981:Sphk2 APN 7 45,360,157 (GRCm39) missense probably benign 0.01
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