Incidental Mutation 'R1603:Sgpl1'
ID176266
Institutional Source Beutler Lab
Gene Symbol Sgpl1
Ensembl Gene ENSMUSG00000020097
Gene Namesphingosine phosphate lyase 1
SynonymsD10Xrf456
MMRRC Submission 039640-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.609) question?
Stock #R1603 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location61098642-61147703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61105451 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 294 (V294M)
Ref Sequence ENSEMBL: ENSMUSP00000112975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092498] [ENSMUST00000122259] [ENSMUST00000150258]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092498
AA Change: V294M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097
AA Change: V294M

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 possibly damaging
Transcript: ENSMUST00000122259
AA Change: V294M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097
AA Change: V294M

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 noncoding transcript
Transcript: ENSMUST00000143225
Predicted Effect probably benign
Transcript: ENSMUST00000150258
AA Change: V294M

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097
AA Change: V294M

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 noncoding transcript
Transcript: ENSMUST00000152316
Meta Mutation Damage Score 0.0656 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 96% (65/68)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,870,213 S169N probably benign Het
4931408C20Rik T A 1: 26,685,569 R177W probably damaging Het
Ace T A 11: 105,972,099 S315R probably benign Het
Adamtsl1 A G 4: 86,415,530 I1491V probably benign Het
Adrb2 A T 18: 62,179,508 M82K probably damaging Het
Aebp2 A G 6: 140,642,253 N350D probably damaging Het
Ankrd42 T C 7: 92,619,691 probably benign Het
Asap1 A T 15: 64,129,257 C492S probably damaging Het
Atp8b3 C A 10: 80,525,785 A768S probably benign Het
Chga T A 12: 102,564,607 probably null Het
Clca4b A G 3: 144,922,019 V397A probably benign Het
Cntnap5a A C 1: 116,412,101 T697P possibly damaging Het
Col12a1 T C 9: 79,612,962 Q2810R probably damaging Het
Dchs1 G T 7: 105,762,770 R1380S probably benign Het
Dgkg T A 16: 22,570,159 probably benign Het
Dlgap3 G A 4: 127,195,228 G206R probably damaging Het
Dnah5 A G 15: 28,294,985 probably benign Het
Dnah5 A T 15: 28,449,180 I4243L probably benign Het
Fbxw22 G T 9: 109,378,847 P452H probably benign Het
Fgl1 T A 8: 41,197,018 D242V probably damaging Het
Gba2 C T 4: 43,567,823 G794R probably damaging Het
Gimap7 A T 6: 48,723,930 D150V probably damaging Het
Gm5334 T C 7: 68,618,872 V13A probably benign Het
Gm6803 C A 12: 88,018,364 E136D probably benign Het
Grk5 T C 19: 61,069,362 F167L probably benign Het
Ice1 A G 13: 70,603,353 L1538P probably benign Het
Idh2 T G 7: 80,099,158 E125A probably damaging Het
Kmt2a A T 9: 44,841,561 probably null Het
Kras A T 6: 145,225,145 L168* probably null Het
Lrrc66 G A 5: 73,607,426 S758L possibly damaging Het
Mak T C 13: 41,042,106 D377G possibly damaging Het
Matn2 T C 15: 34,388,768 C335R probably damaging Het
Mcoln2 C T 3: 146,180,222 S276F probably damaging Het
Morc3 C A 16: 93,866,503 N531K probably benign Het
Obp2a G A 2: 25,702,745 S175N probably benign Het
Olfr1437 A T 19: 12,321,984 V281E probably damaging Het
Olfr319 T C 11: 58,702,460 V253A probably benign Het
Olfr733 T G 14: 50,299,034 I92L possibly damaging Het
Osbpl3 C A 6: 50,323,093 K510N probably damaging Het
Papd4 G A 13: 93,175,565 A209V probably benign Het
Pcnx2 G A 8: 125,839,626 S1026F probably damaging Het
Pom121l2 A T 13: 21,983,344 D595V probably damaging Het
Poteg T A 8: 27,448,005 M1K probably null Het
Rbl1 G A 2: 157,175,659 L547F possibly damaging Het
Rpap3 T C 15: 97,701,121 T82A possibly damaging Het
Sema7a G A 9: 57,960,676 D512N probably benign Het
Slc22a28 A G 19: 8,063,309 S526P probably damaging Het
Trim30b T G 7: 104,365,812 Q123P possibly damaging Het
Trpm5 A G 7: 143,085,209 L275P probably benign Het
Ttc33 A G 15: 5,189,794 E71G probably damaging Het
Unc13d T C 11: 116,073,655 T288A possibly damaging Het
Unc93a T A 17: 13,109,634 E444V probably benign Het
Usf3 T A 16: 44,218,172 M1005K probably benign Het
Vmn2r91 T C 17: 18,106,143 I230T probably benign Het
Wdr49 G A 3: 75,396,870 Q448* probably null Het
Zfp939 T A 7: 39,473,271 noncoding transcript 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
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'- ATGCTAGTGACCTTCAGAGGCTCC -3'
(R):5'- AGGCAGTCTTTTCCCAGGGTGTAG -3'

Sequencing Primer
(F):5'- TGACCTTCAGAGGCTCCAAAAAG -3'
(R):5'- CTTTTCCCAGGGTGTAGAGACC -3'
Posted On2014-04-24