Incidental Mutation 'IGL00230:Sgpp1'
ID2189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgpp1
Ensembl Gene ENSMUSG00000021054
Gene Namesphingosine-1-phosphate phosphatase 1
SynonymsSPP1, mSPP1, SPP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL00230
Quality Score
Status
Chromosome12
Chromosomal Location75714249-75735729 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 75716194 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 404 (Y404*)
Ref Sequence ENSEMBL: ENSMUSP00000021450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021450] [ENSMUST00000220285]
Predicted Effect probably null
Transcript: ENSMUST00000021450
AA Change: Y404*
SMART Domains Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: Y404*

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Sgpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Sgpp1 APN 12 75734993 missense probably damaging 1.00
IGL01481:Sgpp1 APN 12 75722657 missense probably benign 0.31
IGL03384:Sgpp1 APN 12 75716106 unclassified probably benign
R0597:Sgpp1 UTSW 12 75735100 missense probably damaging 1.00
R1203:Sgpp1 UTSW 12 75716282 missense probably benign 0.07
R1648:Sgpp1 UTSW 12 75716216 missense possibly damaging 0.94
R1842:Sgpp1 UTSW 12 75716208 missense probably damaging 1.00
R1932:Sgpp1 UTSW 12 75716179 nonsense probably null
R1958:Sgpp1 UTSW 12 75735448 missense probably benign 0.00
R2098:Sgpp1 UTSW 12 75716510 missense probably damaging 1.00
R4034:Sgpp1 UTSW 12 75716190 missense probably damaging 1.00
R4730:Sgpp1 UTSW 12 75734939 missense probably benign
R5531:Sgpp1 UTSW 12 75735207 nonsense probably null
R6733:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6775:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6778:Sgpp1 UTSW 12 75716294 missense probably benign 0.00
R6783:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6784:Sgpp1 UTSW 12 75735469 missense probably benign 0.22
R6928:Sgpp1 UTSW 12 75716570 missense probably damaging 1.00
R7381:Sgpp1 UTSW 12 75716264 missense probably damaging 1.00
R7805:Sgpp1 UTSW 12 75722677 missense probably damaging 0.97
R8113:Sgpp1 UTSW 12 75716600 missense probably damaging 0.97
R8786:Sgpp1 UTSW 12 75716378 missense probably benign
RF043:Sgpp1 UTSW 12 75722625 frame shift probably null
X0018:Sgpp1 UTSW 12 75716518 missense probably damaging 1.00
Posted On2011-12-09