Incidental Mutation 'R4034:Sgpp1'
ID 313636
Institutional Source Beutler Lab
Gene Symbol Sgpp1
Ensembl Gene ENSMUSG00000021054
Gene Name sphingosine-1-phosphate phosphatase 1
Synonyms SPP, SPP1, mSPP1
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 75761023-75782503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75762964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 406 (Y406H)
Ref Sequence ENSEMBL: ENSMUSP00000021450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021450] [ENSMUST00000220285]
AlphaFold Q9JI99
Predicted Effect probably damaging
Transcript: ENSMUST00000021450
AA Change: Y406H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: Y406H

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
acidPPc 150 264 1.5e-8 SMART
transmembrane domain 279 298 N/A INTRINSIC
transmembrane domain 346 368 N/A INTRINSIC
transmembrane domain 407 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220285
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal keratinocyte differentiation and epidermal homeostasis with postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Sgpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sgpp1 APN 12 75,762,968 (GRCm39) nonsense probably null
IGL01348:Sgpp1 APN 12 75,781,767 (GRCm39) missense probably damaging 1.00
IGL01481:Sgpp1 APN 12 75,769,431 (GRCm39) missense probably benign 0.31
IGL03384:Sgpp1 APN 12 75,762,880 (GRCm39) unclassified probably benign
R0597:Sgpp1 UTSW 12 75,781,874 (GRCm39) missense probably damaging 1.00
R1203:Sgpp1 UTSW 12 75,763,056 (GRCm39) missense probably benign 0.07
R1648:Sgpp1 UTSW 12 75,762,990 (GRCm39) missense possibly damaging 0.94
R1842:Sgpp1 UTSW 12 75,762,982 (GRCm39) missense probably damaging 1.00
R1932:Sgpp1 UTSW 12 75,762,953 (GRCm39) nonsense probably null
R1958:Sgpp1 UTSW 12 75,782,222 (GRCm39) missense probably benign 0.00
R2098:Sgpp1 UTSW 12 75,763,284 (GRCm39) missense probably damaging 1.00
R4730:Sgpp1 UTSW 12 75,781,713 (GRCm39) missense probably benign
R5531:Sgpp1 UTSW 12 75,781,981 (GRCm39) nonsense probably null
R6733:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6775:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6778:Sgpp1 UTSW 12 75,763,068 (GRCm39) missense probably benign 0.00
R6783:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6784:Sgpp1 UTSW 12 75,782,243 (GRCm39) missense probably benign 0.22
R6928:Sgpp1 UTSW 12 75,763,344 (GRCm39) missense probably damaging 1.00
R7381:Sgpp1 UTSW 12 75,763,038 (GRCm39) missense probably damaging 1.00
R7805:Sgpp1 UTSW 12 75,769,451 (GRCm39) missense probably damaging 0.97
R8113:Sgpp1 UTSW 12 75,763,374 (GRCm39) missense probably damaging 0.97
R8786:Sgpp1 UTSW 12 75,763,152 (GRCm39) missense probably benign
R9035:Sgpp1 UTSW 12 75,782,238 (GRCm39) missense probably benign
R9243:Sgpp1 UTSW 12 75,781,961 (GRCm39) missense probably damaging 1.00
R9310:Sgpp1 UTSW 12 75,769,374 (GRCm39) missense probably benign 0.34
RF043:Sgpp1 UTSW 12 75,769,399 (GRCm39) frame shift probably null
X0018:Sgpp1 UTSW 12 75,763,292 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCAAATTCTTGCAGAAGCCTC -3'
(R):5'- TGGGCCTATCCTTAGAACCTTC -3'

Sequencing Primer
(F):5'- AGAAGCCTCTGATCCAAGTTTTACC -3'
(R):5'- AGAACCTTCTCTGCACATGTTAC -3'
Posted On 2015-04-30