Incidental Mutation 'IGL01481:Sgpp1'
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ID88619
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: 0.129) question?
Stock #IGL01481
Quality Score
Status
Chromosome12
Chromosomal Location75714249-75735729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75722657 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 246 (I246V)
Ref Sequence ENSEMBL: ENSMUSP00000151268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021450] [ENSMUST00000220285]
Predicted Effect probably benign
Transcript: ENSMUST00000021450
AA Change: I246V

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021450
Gene: ENSMUSG00000021054
AA Change: I246V

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
AA Change: I246V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N probably damaging Het
Other mutations in Sgpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sgpp1 APN 12 75716194 nonsense probably null
IGL01348:Sgpp1 APN 12 75734993 missense probably damaging 1.00
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
RF043:Sgpp1 UTSW 12 75722625 frame shift probably null
X0018:Sgpp1 UTSW 12 75716518 missense probably damaging 1.00
Posted On2013-11-18