Incidental Mutation 'R1940:Sphk1'
ID 213950
Institutional Source Beutler Lab
Gene Symbol Sphk1
Ensembl Gene ENSMUSG00000061878
Gene Name sphingosine kinase 1
Synonyms 1110006G24Rik, SK1
MMRRC Submission 039958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1940 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116421751-116427501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116426676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 204 (I204V)
Ref Sequence ENSEMBL: ENSMUSP00000121219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063396] [ENSMUST00000063446] [ENSMUST00000082152] [ENSMUST00000100201] [ENSMUST00000106386] [ENSMUST00000106387] [ENSMUST00000141798] [ENSMUST00000106388] [ENSMUST00000154034] [ENSMUST00000155102] [ENSMUST00000124682] [ENSMUST00000145737] [ENSMUST00000138840]
AlphaFold Q8CI15
Predicted Effect probably benign
Transcript: ENSMUST00000063396
AA Change: I205V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064743
Gene: ENSMUSG00000061878
AA Change: I205V

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: ENSMUST00000063446
AA Change: I205V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000067865
Gene: ENSMUSG00000061878
AA Change: I205V

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 benign
Transcript: ENSMUST00000100201
AA Change: I204V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097775
Gene: ENSMUSG00000061878
AA Change: I204V

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 benign
Transcript: ENSMUST00000106386
AA Change: I205V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101994
Gene: ENSMUSG00000061878
AA Change: I205V

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: ENSMUST00000106387
AA Change: I205V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101995
Gene: ENSMUSG00000061878
AA Change: I205V

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: ENSMUST00000141798
AA Change: I211V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131010
Gene: ENSMUSG00000061878
AA Change: I211V

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 benign
Transcript: ENSMUST00000106388
AA Change: I205V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101996
Gene: ENSMUSG00000061878
AA Change: I205V

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: ENSMUST00000154034
AA Change: I204V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121219
Gene: ENSMUSG00000061878
AA Change: I204V

DomainStartEndE-ValueType
DAGKc 15 152 1.19e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134834
Predicted Effect probably benign
Transcript: ENSMUST00000155102
SMART Domains Protein: ENSMUSP00000114819
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
Pfam:DAGK_cat 16 116 4.6e-27 PFAM
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: ENSMUST00000145737
SMART Domains Protein: ENSMUSP00000114622
Gene: ENSMUSG00000061878

DomainStartEndE-ValueType
DAGKc 15 152 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 noncoding transcript
Transcript: ENSMUST00000186169
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.7%
Validation Efficiency 98% (108/110)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,032,832 (GRCm39) probably benign Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam24 A T 8: 41,134,400 (GRCm39) R623* probably null Het
Agbl2 T A 2: 90,641,626 (GRCm39) L752Q probably damaging Het
Ankrd26 A T 6: 118,488,654 (GRCm39) F1335Y probably damaging Het
Ankrd34a A G 3: 96,505,992 (GRCm39) S399G probably benign Het
Aoc1l3 A T 6: 48,967,007 (GRCm39) K652* probably null Het
Ap3d1 G A 10: 80,545,607 (GRCm39) P1041S probably benign Het
Arid3b A T 9: 57,703,431 (GRCm39) M466K possibly damaging Het
Arsj T C 3: 126,231,995 (GRCm39) I247T probably damaging Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Azin2 C T 4: 128,844,577 (GRCm39) probably null Het
Bcat2 T C 7: 45,237,792 (GRCm39) Y313H possibly damaging Het
Cables2 A G 2: 179,901,873 (GRCm39) V465A probably damaging Het
Ccdc60 G A 5: 116,264,224 (GRCm39) H517Y probably damaging Het
Cd55b A T 1: 130,345,843 (GRCm39) probably null Het
Cdc40 G A 10: 40,759,067 (GRCm39) probably benign Het
Cdh20 G A 1: 109,976,754 (GRCm39) V140I probably benign Het
Cdhr18 A T 14: 13,828,582 (GRCm38) M726K probably null Het
Cfi T C 3: 129,652,477 (GRCm39) probably benign Het
Chit1 G A 1: 134,073,156 (GRCm39) probably null Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Ciao1 A G 2: 127,088,380 (GRCm39) S148P possibly damaging Het
Clmn G A 12: 104,756,361 (GRCm39) T163I probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Col19a1 A T 1: 24,303,831 (GRCm39) C1117* probably null Het
Cplane1 T A 15: 8,263,336 (GRCm39) S2496R probably damaging Het
Cyp2d10 T A 15: 82,289,495 (GRCm39) I206F probably benign Het
Ddrgk1 G T 2: 130,505,480 (GRCm39) probably benign Het
Ddx18 A T 1: 121,482,953 (GRCm39) V611D probably damaging Het
Dnah8 A T 17: 30,950,181 (GRCm39) H2000L probably damaging Het
Duox1 T C 2: 122,156,465 (GRCm39) V464A probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eif4enif1 A G 11: 3,193,279 (GRCm39) H857R probably damaging Het
Elmo2 A G 2: 165,133,970 (GRCm39) probably benign Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,643,218 (GRCm39) probably benign Het
Glrx A G 13: 75,988,256 (GRCm39) I57V probably benign Het
Golm1 A T 13: 59,790,051 (GRCm39) probably benign Het
Grm3 G A 5: 9,561,682 (GRCm39) R723W probably damaging Het
Gsta3 G A 1: 21,327,601 (GRCm39) R45Q probably benign Het
Gtf3c3 A C 1: 54,468,117 (GRCm39) probably benign Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Hoxa10 C A 6: 52,211,350 (GRCm39) G189C possibly damaging Het
Hs3st3b1 T C 11: 63,780,569 (GRCm39) D186G probably benign Het
Hscb G T 5: 110,983,926 (GRCm39) H63N probably benign Het
Itpr3 A G 17: 27,330,191 (GRCm39) E1603G probably damaging Het
Ivl T A 3: 92,480,056 (GRCm39) H3L probably benign Het
Klhl26 C A 8: 70,904,911 (GRCm39) R252L probably damaging Het
Krt31 T A 11: 99,939,069 (GRCm39) T251S probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lhx3 T C 2: 26,093,974 (GRCm39) D83G probably benign Het
Lss C A 10: 76,381,296 (GRCm39) N427K possibly damaging Het
Mettl24 G A 10: 40,613,722 (GRCm39) A154T probably benign Het
Mgat4a A T 1: 37,575,118 (GRCm39) probably null Het
Moxd2 C T 6: 40,860,466 (GRCm39) R326Q probably damaging Het
Mpdz G A 4: 81,279,680 (GRCm39) A669V probably benign Het
Msra G A 14: 64,522,505 (GRCm39) probably benign Het
Muc13 A T 16: 33,628,281 (GRCm39) T344S probably benign Het
Myo3b T C 2: 70,088,419 (GRCm39) I866T probably benign Het
Nbea T C 3: 55,860,521 (GRCm39) S1852G possibly damaging Het
Ncf2 A G 1: 152,709,815 (GRCm39) probably benign Het
Nfyc C A 4: 120,630,861 (GRCm39) probably benign Het
Nop2 T C 6: 125,111,597 (GRCm39) V110A probably benign Het
Nrg2 C A 18: 36,329,897 (GRCm39) probably benign Het
Nrl A G 14: 55,759,892 (GRCm39) Y12H probably damaging Het
Nrxn3 T C 12: 89,227,151 (GRCm39) V635A probably damaging Het
Or4d11 A C 19: 12,013,275 (GRCm39) V277G probably benign Het
Or6b2b T A 1: 92,419,457 (GRCm39) T7S probably benign Het
Or8k41 T A 2: 86,313,703 (GRCm39) K128* probably null Het
Or9g8 T A 2: 85,607,515 (GRCm39) S196T probably benign Het
Papolg A T 11: 23,817,279 (GRCm39) N639K probably benign Het
Paqr4 T C 17: 23,956,638 (GRCm39) I242V probably damaging Het
Pramel6 A T 2: 87,339,076 (GRCm39) K92M probably damaging Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprb A T 10: 116,155,515 (GRCm39) probably benign Het
Rab28 A T 5: 41,783,133 (GRCm39) S216T probably benign Het
Rrp1b A T 17: 32,275,819 (GRCm39) R455S possibly damaging Het
Sash1 A T 10: 8,605,696 (GRCm39) M898K probably benign Het
Scn8a C T 15: 100,868,085 (GRCm39) T310I probably benign Het
Secisbp2l C A 2: 125,582,259 (GRCm39) D1066Y probably damaging Het
Sipa1l2 A G 8: 126,206,887 (GRCm39) probably benign Het
Slc12a1 A G 2: 125,036,113 (GRCm39) T662A probably benign Het
Slc12a4 T C 8: 106,672,669 (GRCm39) I749V probably benign Het
Slc22a27 A G 19: 7,887,092 (GRCm39) S266P probably damaging Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slit1 T A 19: 41,619,215 (GRCm39) N762I probably damaging Het
Spata31d1b C A 13: 59,865,835 (GRCm39) D994E possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Tgfbi A T 13: 56,762,127 (GRCm39) Q70L possibly damaging Het
Tlr9 T C 9: 106,101,846 (GRCm39) L379P probably damaging Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Tra2b A G 16: 22,073,795 (GRCm39) probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trnau1ap A G 4: 132,049,114 (GRCm39) Y30H probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ush2a A G 1: 188,683,758 (GRCm39) D4979G probably null Het
Usp50 C T 2: 126,619,943 (GRCm39) R123Q probably benign Het
Vmn2r117 A T 17: 23,696,454 (GRCm39) Y318N probably damaging Het
Whamm C T 7: 81,228,047 (GRCm39) T304I probably null Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Ythdf3 A G 3: 16,259,256 (GRCm39) N468D possibly damaging Het
Zbtb17 T C 4: 141,192,859 (GRCm39) I486T possibly damaging Het
Zfp3 T C 11: 70,662,202 (GRCm39) S54P probably benign Het
Zscan10 A T 17: 23,828,826 (GRCm39) H379L probably damaging 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
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
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'- TCACCCATGAACCTGCTGTC -3'
(R):5'- CGTACGTAGAACAGATGCATAACAC -3'

Sequencing Primer
(F):5'- ATGAACCTGCTGTCCCTGCAC -3'
(R):5'- TGCAAACAGCTCGGAGC -3'
Posted On 2014-07-14