Incidental Mutation 'R0647:Sgpl1'
ID57275
Institutional Source Beutler Lab
Gene Symbol Sgpl1
Ensembl Gene ENSMUSG00000020097
Gene Namesphingosine phosphate lyase 1
SynonymsD10Xrf456
MMRRC Submission 038832-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.609) question?
Stock #R0647 (G1)
Quality Score218
Status Not validated
Chromosome10
Chromosomal Location61098642-61147703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61113488 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 146 (S146P)
Ref Sequence ENSEMBL: ENSMUSP00000115561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092498] [ENSMUST00000122259] [ENSMUST00000137833] [ENSMUST00000150258] [ENSMUST00000155919]
Predicted Effect probably damaging
Transcript: ENSMUST00000092498
AA Change: S146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097
AA Change: S146P

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Pfam:Pyridoxal_deC 159 454 7.8e-21 PFAM
Pfam:Aminotran_1_2 169 326 3.3e-10 PFAM
Pfam:Aminotran_5 187 472 3.6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122259
AA Change: S146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097
AA Change: S146P

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Pfam:Pyridoxal_deC 168 454 4.1e-23 PFAM
Pfam:Aminotran_1_2 169 326 3.3e-10 PFAM
Pfam:Aminotran_5 186 472 5.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137833
SMART Domains Protein: ENSMUSP00000119550
Gene: ENSMUSG00000020097

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142192
Predicted Effect probably damaging
Transcript: ENSMUST00000150258
AA Change: S146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097
AA Change: S146P

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Pfam:Pyridoxal_deC 167 454 2.6e-23 PFAM
Pfam:Aminotran_1_2 169 326 7.9e-10 PFAM
Pfam:Aminotran_5 187 471 1.1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155919
AA Change: S146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115561
Gene: ENSMUSG00000020097
AA Change: S146P

DomainStartEndE-ValueType
SCOP:d1f3mc_ 45 128 5e-3 SMART
PDB:4Q6R|B 62 199 1e-62 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T A 14: 8,536,655 D184V possibly damaging Het
Adamts2 C A 11: 50,603,438 T113K probably damaging Het
Adgre1 T A 17: 57,411,003 N338K probably damaging Het
Aggf1 A T 13: 95,371,656 probably null Het
Apc2 A T 10: 80,304,928 I206F probably damaging Het
Carmil3 T C 14: 55,502,435 probably null Het
Ccdc110 A C 8: 45,943,388 E772A probably damaging Het
Cdh23 A G 10: 60,307,902 F2977L probably damaging Het
Cdh23 A T 10: 60,323,374 Y2207* probably null Het
Chd4 T A 6: 125,109,123 N908K probably damaging Het
Chst9 A G 18: 15,452,669 I279T probably damaging Het
Ctnna3 A T 10: 63,820,424 N261I probably benign Het
Dlgap2 A T 8: 14,727,591 S279C possibly damaging Het
Dock4 G A 12: 40,710,884 E524K probably damaging Het
Fabp12 T A 3: 10,246,036 N122I possibly damaging Het
Fam184b T C 5: 45,584,590 T100A probably benign Het
Fbxl5 T C 5: 43,768,069 D176G probably damaging Het
Fcho1 C T 8: 71,712,560 A418T probably benign Het
Foxe1 A G 4: 46,344,477 N95S possibly damaging Het
Frem3 A G 8: 80,615,185 E1369G probably damaging Het
Frmpd4 C T X: 167,489,010 E483K probably damaging Het
Gbp11 T C 5: 105,330,964 K203E possibly damaging Het
Gm10334 A T 6: 41,443,341 F150L probably benign Het
Hs3st6 C T 17: 24,758,160 R205C probably damaging Het
Ifitm10 C T 7: 142,356,035 S179N probably damaging Het
Irx2 A C 13: 72,630,680 N121T probably damaging Het
Itih1 A T 14: 30,935,863 V417E probably damaging Het
Itpr1 A C 6: 108,383,698 E695A probably damaging Het
Kif1c T A 11: 70,726,141 I755K probably damaging Het
Lamb3 A G 1: 193,330,796 E443G probably damaging Het
Lrp1 G C 10: 127,571,477 T1865R probably damaging Het
Lrrc8b T A 5: 105,480,607 I273K possibly damaging Het
Ly9 T C 1: 171,599,808 Y393C probably damaging Het
Mphosph8 T C 14: 56,674,405 V295A probably benign Het
Nlrp5 T A 7: 23,417,707 D269E probably damaging Het
Olfr1294 A G 2: 111,537,359 V310A probably benign Het
Olfr398 G A 11: 73,983,771 A279V probably damaging Het
Olfr469 T A 7: 107,823,011 I153F probably benign Het
Olfr654 T G 7: 104,588,115 F104V probably damaging Het
Olfr720 T G 14: 14,175,858 T75P probably benign Het
Otud3 A G 4: 138,913,637 L64P probably damaging Het
Pcdh17 A T 14: 84,447,773 H560L possibly damaging Het
Pcdhb21 T C 18: 37,513,860 V14A probably damaging Het
Rbfox1 A T 16: 7,224,384 Q14L probably damaging Het
Rbm44 A G 1: 91,156,928 D665G probably benign Het
Rc3h2 C T 2: 37,409,530 V163M probably damaging Het
Sash1 T A 10: 8,729,552 R1025W probably damaging Het
Slc27a2 G A 2: 126,587,916 D615N probably benign Het
Smap1 A G 1: 23,853,478 I135T probably damaging Het
Snapc3 A G 4: 83,450,229 D321G probably damaging Het
St6galnac4 C T 2: 32,589,448 R6C probably damaging Het
Syne2 C T 12: 75,888,203 P153L probably benign Het
Tiprl A G 1: 165,222,523 probably null Het
Tmem94 A G 11: 115,796,795 N1160S probably damaging Het
Trim65 G A 11: 116,128,210 R168C possibly damaging Het
Txndc16 A T 14: 45,169,275 I241N probably damaging Het
Txndc16 T A 14: 45,165,361 R101* probably null Het
Ugt2b38 A G 5: 87,423,469 S235P probably benign Het
Ugt3a1 A T 15: 9,310,549 M306L probably benign Het
Vmn1r23 T A 6: 57,926,184 Y203F probably benign Het
Vmn2r3 T A 3: 64,275,625 I218F probably damaging Het
Wdfy4 A G 14: 33,109,699 C857R possibly damaging Het
Zfp493 A C 13: 67,783,875 K31T possibly damaging Het
Other mutations in Sgpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Sgpl1 APN 10 61100908 missense probably benign 0.00
IGL01376:Sgpl1 APN 10 61114070 missense probably damaging 1.00
IGL01954:Sgpl1 APN 10 61100893 missense probably benign 0.00
IGL02668:Sgpl1 APN 10 61105450 missense probably damaging 0.97
IGL02797:Sgpl1 APN 10 61101728 missense probably benign 0.01
R0034:Sgpl1 UTSW 10 61102613 missense probably damaging 0.97
R0309:Sgpl1 UTSW 10 61113437 critical splice donor site probably null
R1496:Sgpl1 UTSW 10 61102589 missense probably damaging 1.00
R1603:Sgpl1 UTSW 10 61105451 missense possibly damaging 0.95
R1941:Sgpl1 UTSW 10 61103307 missense probably damaging 1.00
R4097:Sgpl1 UTSW 10 61103238 missense probably damaging 1.00
R4392:Sgpl1 UTSW 10 61104452 splice site probably benign
R4798:Sgpl1 UTSW 10 61123344 missense possibly damaging 0.83
R4849:Sgpl1 UTSW 10 61104518 missense probably benign 0.00
R4882:Sgpl1 UTSW 10 61112265 missense probably damaging 1.00
R4962:Sgpl1 UTSW 10 61114084 missense probably damaging 1.00
R6395:Sgpl1 UTSW 10 61112157 splice site probably null
Predicted Primers PCR Primer
(F):5'- GCAAAGTCCAGAGGTATAAGTGGCATT -3'
(R):5'- TGGCACTCACTACACATACTGTAGCTT -3'

Sequencing Primer
(F):5'- GGTATAAGTGGCATTTCACATTTTC -3'
(R):5'- aggaagatgtaagctgcctg -3'
Posted On2013-07-11