Incidental Mutation 'R8827:Sphk1'
ID 673557
Institutional Source Beutler Lab
Gene Symbol Sphk1
Ensembl Gene ENSMUSG00000061878
Gene Name sphingosine kinase 1
Synonyms 1110006G24Rik, SK1
MMRRC Submission 068658-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8827 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116421751-116427501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116426590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 182 (D182G)
Ref Sequence ENSEMBL: ENSMUSP00000131010 (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 probably damaging
Transcript: ENSMUST00000063396
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878
AA Change: D176G

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 damaging
Transcript: ENSMUST00000063446
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878
AA Change: D176G

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 probably damaging
Transcript: ENSMUST00000100201
AA Change: D175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878
AA Change: D175G

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 probably damaging
Transcript: ENSMUST00000106386
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878
AA Change: D176G

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 damaging
Transcript: ENSMUST00000106387
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878
AA Change: D176G

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 damaging
Transcript: ENSMUST00000141798
AA Change: D182G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878
AA Change: D182G

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 probably damaging
Transcript: ENSMUST00000106388
AA Change: D176G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878
AA Change: D176G

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: ENSMUST00000124682
SMART Domains Protein: ENSMUSP00000116055
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 16 153 1.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138840
SMART Domains Protein: ENSMUSP00000121064
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145737
SMART Domains Protein: ENSMUSP00000114622
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154034
AA Change: D175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121219
Gene: ENSMUSG00000061878
AA Change: D175G

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155102
SMART Domains Protein: ENSMUSP00000114819
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
Pfam:DAGK_cat 16 116 4.6e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,839,324 (GRCm39) I810V probably benign Het
Adcy7 T C 8: 89,036,327 (GRCm39) F128S possibly damaging Het
Ankhd1 C T 18: 36,757,633 (GRCm39) Q188* probably null Het
Asxl2 A T 12: 3,550,501 (GRCm39) I748L probably benign Het
Atp8b2 T C 3: 89,853,307 (GRCm39) N70S Het
Bmp1 A G 14: 70,728,082 (GRCm39) Y616H probably damaging Het
Brap T A 5: 121,810,261 (GRCm39) D248E probably benign Het
Ccdc13 G A 9: 121,645,765 (GRCm39) S294L probably benign Het
Cdkl1 T C 12: 69,794,123 (GRCm39) Y338C probably benign Het
Cfap54 A T 10: 92,774,110 (GRCm39) S1993T unknown Het
Chl1 G T 6: 103,670,111 (GRCm39) M500I probably benign Het
Cntn3 G C 6: 102,246,094 (GRCm39) L352V probably benign Het
Cog6 T C 3: 52,890,535 (GRCm39) D635G probably benign Het
Col22a1 C A 15: 71,774,665 (GRCm39) probably null Het
Cyp3a16 A T 5: 145,387,008 (GRCm39) D327E probably benign Het
D6Ertd527e A T 6: 87,088,226 (GRCm39) S130C unknown Het
Dhodh T C 8: 110,334,928 (GRCm39) probably benign Het
Dync2li1 C T 17: 84,955,079 (GRCm39) S246L possibly damaging Het
Eif3c A T 7: 126,157,894 (GRCm39) F316Y probably damaging Het
Esp34 A T 17: 38,865,091 (GRCm39) probably benign Het
Fam98a T C 17: 75,851,824 (GRCm39) M86V possibly damaging Het
Gm29394 G T 15: 57,932,717 (GRCm39) Q7K probably damaging Het
Gtf2i C T 5: 134,269,096 (GRCm39) probably null Het
H2bc27 C T 11: 58,839,917 (GRCm39) P51L probably benign Het
Hecw1 A G 13: 14,438,720 (GRCm39) Y888H probably damaging Het
Kcnma1 A T 14: 23,417,548 (GRCm39) W894R probably damaging Het
Klhl25 C A 7: 75,516,391 (GRCm39) D432E possibly damaging Het
Klhl7 G A 5: 24,363,635 (GRCm39) probably null Het
Lamc1 A T 1: 153,097,424 (GRCm39) L1540Q probably damaging Het
Map3k5 T A 10: 19,902,003 (GRCm39) V358E probably damaging Het
Map4k5 C T 12: 69,903,635 (GRCm39) D57N possibly damaging Het
Mpped2 T C 2: 106,691,928 (GRCm39) M211T possibly damaging Het
Nat9 T C 11: 115,075,339 (GRCm39) T101A probably benign Het
Nprl3 A T 11: 32,184,742 (GRCm39) F447L probably benign Het
Nup50l G T 6: 96,142,293 (GRCm39) N250K probably benign Het
Or4p22 T C 2: 88,317,165 (GRCm39) S30P probably damaging Het
Or5h24 G A 16: 58,919,061 (GRCm39) T98I unknown Het
Or5w16 C T 2: 87,576,777 (GRCm39) P79L possibly damaging Het
Orc3 A T 4: 34,605,569 (GRCm39) F104Y probably benign Het
Pcdha6 T A 18: 37,102,802 (GRCm39) V665E probably damaging Het
Pdpk1 T C 17: 24,307,191 (GRCm39) D380G probably benign Het
Phkg1 T A 5: 129,893,894 (GRCm39) E280D probably benign Het
Pkdrej T A 15: 85,699,732 (GRCm39) Y2068F possibly damaging Het
Plekhg5 A G 4: 152,191,462 (GRCm39) probably benign Het
Plekhh3 G A 11: 101,058,380 (GRCm39) P222L probably damaging Het
Prdm1 A T 10: 44,334,476 (GRCm39) V10E probably benign Het
Prdm6 G T 18: 53,701,267 (GRCm39) Q513H probably damaging Het
Pros1 T C 16: 62,746,827 (GRCm39) V593A probably benign Het
Radil T C 5: 142,493,859 (GRCm39) H250R probably damaging Het
Rasa2 C T 9: 96,434,403 (GRCm39) R628Q probably damaging Het
Ryr2 T C 13: 11,572,934 (GRCm39) E4884G possibly damaging Het
Shh A G 5: 28,663,125 (GRCm39) S348P probably damaging Het
Slc1a4 A T 11: 20,270,237 (GRCm39) probably benign Het
Slc32a1 A C 2: 158,453,274 (GRCm39) D38A probably damaging Het
Slc35f3 TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,780 (GRCm39) probably benign Het
Slc45a4 A T 15: 73,458,316 (GRCm39) I411N probably benign Het
Slc49a4 A T 16: 35,554,320 (GRCm39) C274S probably benign Het
Slc7a10 C A 7: 34,897,313 (GRCm39) S248Y probably damaging Het
Smc3 T A 19: 53,611,085 (GRCm39) D258E probably benign Het
Spata31h1 T A 10: 82,129,617 (GRCm39) Q1131L probably benign Het
Srgap3 A G 6: 112,716,302 (GRCm39) Y633H probably damaging Het
Sspo T G 6: 48,434,606 (GRCm39) F1033V possibly damaging Het
Syne2 T C 12: 76,095,357 (GRCm39) V488A probably benign Het
Tead1 A C 7: 112,475,449 (GRCm39) K299N probably damaging Het
Tmem150c A C 5: 100,240,654 (GRCm39) S69R probably damaging Het
Tnfaip3 T A 10: 18,880,795 (GRCm39) K424M probably damaging Het
Trib3 A G 2: 152,180,188 (GRCm39) V335A possibly damaging Het
Ttc39c G A 18: 12,828,436 (GRCm39) V199I probably benign Het
Vangl1 A T 3: 102,070,736 (GRCm39) F400Y probably damaging Het
Vmn2r106 A T 17: 20,487,868 (GRCm39) S844T probably benign Het
Wwtr1 A G 3: 57,482,616 (GRCm39) V77A probably damaging Het
Yju2b T A 8: 84,986,987 (GRCm39) Q170L possibly damaging Het
Zc3h4 C A 7: 16,163,123 (GRCm39) P500T unknown Het
Zfand2a C T 5: 139,460,607 (GRCm39) probably null Het
Zfr2 A G 10: 81,078,619 (GRCm39) T284A 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
R5440:Sphk1 UTSW 11 116,425,714 (GRCm39) missense possibly damaging 0.54
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
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'- CCATCTGATCTTTAACCTTGCAGG -3'
(R):5'- CCACAGTCCAATGAGAAGGC -3'

Sequencing Primer
(F):5'- CTTGCAGGTACGAGCAGGTG -3'
(R):5'- AATGAGAAGGCACTGGCTCCTC -3'
Posted On 2021-07-15