Incidental Mutation 'R5440:Sphk1'
ID 428599
Institutional Source Beutler Lab
Gene Symbol Sphk1
Ensembl Gene ENSMUSG00000061878
Gene Name sphingosine kinase 1
Synonyms 1110006G24Rik, SK1
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116421751-116427501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 116425714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 17 (V17G)
Ref Sequence ENSEMBL: ENSMUSP00000114819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063396] [ENSMUST00000063446] [ENSMUST00000082152] [ENSMUST00000100201] [ENSMUST00000106386] [ENSMUST00000106387] [ENSMUST00000141798] [ENSMUST00000106388] [ENSMUST00000124682] [ENSMUST00000138840] [ENSMUST00000145737] [ENSMUST00000154034] [ENSMUST00000155102]
AlphaFold Q8CI15
Predicted Effect unknown
Transcript: ENSMUST00000063396
AA Change: V17G
SMART Domains Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000063446
AA Change: V17G
SMART Domains Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082152
SMART Domains Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
low complexity region 79 110 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
low complexity region 379 391 N/A INTRINSIC
low complexity region 470 505 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 705 712 N/A INTRINSIC
low complexity region 715 737 N/A INTRINSIC
coiled coil region 845 879 N/A INTRINSIC
UBCc 953 1110 2.23e-16 SMART
Blast:UBCc 1201 1274 1e-15 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000100201
AA Change: V16G
SMART Domains Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878
AA Change: V16G

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
low complexity region 256 262 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106386
AA Change: V17G
SMART Domains Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106387
AA Change: V17G
SMART Domains Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000141798
AA Change: V23G
SMART Domains Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878
AA Change: V23G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
DAGKc 22 159 1.19e-8 SMART
low complexity region 263 269 N/A INTRINSIC
low complexity region 374 388 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000106388
AA Change: V17G
SMART Domains Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
low complexity region 257 263 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124682
AA Change: V17G
SMART Domains Protein: ENSMUSP00000116055
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136526
Predicted Effect unknown
Transcript: ENSMUST00000138840
AA Change: V16G
SMART Domains Protein: ENSMUSP00000121064
Gene: ENSMUSG00000061878
AA Change: V16G

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000145737
AA Change: V16G
SMART Domains Protein: ENSMUSP00000114622
Gene: ENSMUSG00000061878
AA Change: V16G

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150658
Predicted Effect unknown
Transcript: ENSMUST00000154034
AA Change: V16G
SMART Domains Protein: ENSMUSP00000121219
Gene: ENSMUSG00000061878
AA Change: V16G

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000155102
AA Change: V17G

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114819
Gene: ENSMUSG00000061878
AA Change: V17G

DomainStartEndE-ValueType
Pfam:DAGK_cat 16 116 4.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186169
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous null mice are viable, fertile, and without any obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G probably benign Het
Other mutations in Sphk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0040:Sphk1 UTSW 11 116,425,891 (GRCm39) splice site probably benign
R0565:Sphk1 UTSW 11 116,427,184 (GRCm39) unclassified probably benign
R1307:Sphk1 UTSW 11 116,426,928 (GRCm39) missense probably benign 0.09
R1635:Sphk1 UTSW 11 116,426,596 (GRCm39) missense probably damaging 1.00
R1940:Sphk1 UTSW 11 116,426,676 (GRCm39) missense probably benign 0.00
R4685:Sphk1 UTSW 11 116,426,106 (GRCm39) missense probably damaging 1.00
R5621:Sphk1 UTSW 11 116,427,192 (GRCm39) unclassified probably benign
R6767:Sphk1 UTSW 11 116,426,982 (GRCm39) missense possibly damaging 0.93
R7150:Sphk1 UTSW 11 116,425,907 (GRCm39) missense probably benign 0.07
R7207:Sphk1 UTSW 11 116,426,590 (GRCm39) missense probably damaging 1.00
R7758:Sphk1 UTSW 11 116,427,063 (GRCm39) missense possibly damaging 0.75
R8084:Sphk1 UTSW 11 116,425,904 (GRCm39) critical splice acceptor site probably null
R8733:Sphk1 UTSW 11 116,426,451 (GRCm39) missense probably benign 0.32
R8827:Sphk1 UTSW 11 116,426,590 (GRCm39) missense probably damaging 1.00
R9034:Sphk1 UTSW 11 116,426,449 (GRCm39) missense probably damaging 1.00
RF018:Sphk1 UTSW 11 116,425,771 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CTGGTTGTGGACATTACCATTC -3'
(R):5'- CTCAGAGCTGGTTTTCTGGC -3'

Sequencing Primer
(F):5'- GAACTCACTCTGTAGACCAGGTTG -3'
(R):5'- AGAGCTGGTTTTCTGGCATGAAATG -3'
Posted On 2016-09-01