Incidental Mutation 'R4882:Sgpl1'
ID375338
Institutional Source Beutler Lab
Gene Symbol Sgpl1
Ensembl Gene ENSMUSG00000020097
Gene Namesphingosine phosphate lyase 1
SynonymsD10Xrf456
MMRRC Submission 042490-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.609) question?
Stock #R4882 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location61098642-61147703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61112265 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 171 (N171S)
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: N171S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097
AA Change: N171S

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: N171S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097
AA Change: N171S

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 probably damaging
Transcript: ENSMUST00000150258
AA Change: N171S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097
AA Change: N171S

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: N171S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115561
Gene: ENSMUSG00000020097
AA Change: N171S

DomainStartEndE-ValueType
SCOP:d1f3mc_ 45 128 5e-3 SMART
PDB:4Q6R|B 62 199 1e-62 PDB
Meta Mutation Damage Score 0.646 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (59/60)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,905,655 D764G probably damaging Het
Adgrg6 T A 10: 14,434,337 I775F possibly damaging Het
Ahnak T A 19: 9,005,897 M1515K probably damaging Het
Aqp4 A G 18: 15,398,254 V150A possibly damaging Het
Axdnd1 A T 1: 156,395,559 probably null Het
Bap1 C T 14: 31,251,721 probably benign Het
BB014433 A G 8: 15,042,016 V279A probably benign Het
Cacng8 T C 7: 3,412,153 Y151H probably damaging Het
Caskin1 T C 17: 24,504,415 S726P probably damaging Het
Cd200 T C 16: 45,397,017 T104A probably benign Het
Cdk12 C T 11: 98,210,446 R377C unknown Het
Ceacam13 A G 7: 18,013,072 H150R probably benign Het
Cebpzos T C 17: 78,919,791 Y65H probably benign Het
Cgnl1 T A 9: 71,717,401 M630L probably benign Het
Dopey2 G T 16: 93,752,914 R247L possibly damaging Het
Dqx1 A G 6: 83,066,088 probably null Het
Etaa1 T C 11: 17,946,174 S648G probably benign Het
Flnb A G 14: 7,929,936 D2022G possibly damaging Het
Gpr158 T A 2: 21,825,248 N701K probably damaging Het
H2-Eb2 C T 17: 34,334,256 H139Y probably benign Het
Hbb-bh2 A T 7: 103,839,248 V114E probably damaging Het
Ifna9 T A 4: 88,592,303 Q28L probably benign Het
Inca1 T C 11: 70,688,740 T188A probably benign Het
Irf9 G T 14: 55,609,039 probably benign Het
Kdm1b T A 13: 47,060,893 H238Q probably benign Het
Lpin1 G C 12: 16,538,536 F851L probably damaging Het
Map3k9 C T 12: 81,724,162 R884Q probably damaging Het
Mcm3ap C T 10: 76,484,661 Q818* probably null Het
Mcm7 A T 5: 138,165,911 probably null Het
Npdc1 G A 2: 25,408,945 D284N probably damaging Het
Nppa G T 4: 148,001,087 M50I probably benign Het
Opcml G A 9: 28,901,590 E193K probably damaging Het
Phf14 T A 6: 11,988,757 N665K possibly damaging Het
Plekhh3 G A 11: 101,165,183 A47V probably damaging Het
Plekhh3 T A 11: 101,167,938 E156V probably null Het
Prpf19 T C 19: 10,898,959 probably benign Het
Rev3l T A 10: 39,821,460 V651E possibly damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slx4 T C 16: 3,980,996 probably null Het
Smchd1 T A 17: 71,358,239 probably benign Het
Snca A G 6: 60,815,735 V63A probably benign Het
Taok3 A T 5: 117,252,630 Q92L probably damaging Het
Uhrf1 T C 17: 56,309,401 V73A probably damaging Het
Usp38 G A 8: 80,981,977 Q991* probably null Het
Vmn2r96 T A 17: 18,597,604 V673E probably damaging Het
Zan A G 5: 137,438,448 Y2048H unknown Het
Zfp759 T A 13: 67,139,290 Y302N probably 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
R0647:Sgpl1 UTSW 10 61113488 missense probably damaging 1.00
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
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'- TCTCCTACCAACTTTATATAGGCTG -3'
(R):5'- GCAACTTCAAAGTGATGGCTATC -3'

Sequencing Primer
(F):5'- ACAGTACTTCATCTAGACCATTCTAC -3'
(R):5'- ACTTCAAAGTGATGGCTATCTGTTG -3'
Posted On2016-03-17