Incidental Mutation 'IGL02668:Sgpl1'
ID 302801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgpl1
Ensembl Gene ENSMUSG00000020097
Gene Name sphingosine phosphate lyase 1
Synonyms D10Xrf456
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02668
Quality Score
Status
Chromosome 10
Chromosomal Location 60934421-60983463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 60941229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 294 (V294G)
Ref Sequence ENSEMBL: ENSMUSP00000112975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092498] [ENSMUST00000122259] [ENSMUST00000150258]
AlphaFold Q8R0X7
Predicted Effect probably damaging
Transcript: ENSMUST00000092498
AA Change: V294G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097
AA Change: V294G

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: V294G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097
AA Change: V294G

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 possibly damaging
Transcript: ENSMUST00000150258
AA Change: V294G

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097
AA Change: V294G

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
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,532,074 (GRCm39) M167T probably benign Het
Abcc4 G T 14: 118,848,887 (GRCm39) S488R probably damaging Het
Adprm G T 11: 66,931,073 (GRCm39) D230E possibly damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bltp3a A C 17: 28,105,549 (GRCm39) I692L possibly damaging Het
Ccdc66 T C 14: 27,219,298 (GRCm39) K309E possibly damaging Het
Cyb561d2 C T 9: 107,417,371 (GRCm39) A127T probably benign Het
Dctn1 T A 6: 83,168,030 (GRCm39) M357K possibly damaging Het
Diras2 T C 13: 52,661,806 (GRCm39) N167S probably benign Het
Dmgdh T G 13: 93,840,418 (GRCm39) V283G probably damaging Het
Dmxl2 A T 9: 54,324,229 (GRCm39) W1052R probably damaging Het
Dnah6 A T 6: 73,098,806 (GRCm39) V2083D possibly damaging Het
Dnai7 G T 6: 145,150,983 (GRCm39) R30S unknown Het
Exoc4 T G 6: 33,898,467 (GRCm39) F895L probably benign Het
Fsip1 G T 2: 118,082,206 (GRCm39) A76E probably benign Het
Fsip2 A G 2: 82,828,662 (GRCm39) I6820V probably benign Het
Hdac10 G A 15: 89,009,847 (GRCm39) P395L probably benign Het
Ing3 A G 6: 21,950,058 (GRCm39) D17G probably damaging Het
Map3k4 A T 17: 12,454,840 (GRCm39) F1383L possibly damaging Het
Myct1 C A 10: 5,554,513 (GRCm39) P127T probably damaging Het
Or52s1 A T 7: 102,861,942 (GRCm39) I281F possibly damaging Het
Osbpl7 G T 11: 96,958,031 (GRCm39) A625S possibly damaging Het
Padi2 C T 4: 140,677,191 (GRCm39) R660C probably benign Het
Paip1 A T 13: 119,574,607 (GRCm39) I185F probably damaging Het
Pals2 C T 6: 50,171,509 (GRCm39) T386I probably damaging Het
Phykpl G A 11: 51,484,514 (GRCm39) probably null Het
Plekhg6 G A 6: 125,349,766 (GRCm39) probably benign Het
Plxna1 A T 6: 89,334,251 (GRCm39) L126* probably null Het
Rchy1 A T 5: 92,110,577 (GRCm39) M1K probably null Het
Rfx3 T C 19: 27,793,014 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,267 (GRCm39) F182L probably damaging Het
Sh2b1 A G 7: 126,071,646 (GRCm39) S180P possibly damaging Het
Sorbs1 T C 19: 40,303,125 (GRCm39) D488G probably damaging Het
Stab2 A G 10: 86,682,027 (GRCm39) probably benign Het
Sycp1 A C 3: 102,727,847 (GRCm39) probably benign Het
Tmem245 T C 4: 56,925,081 (GRCm39) K347E possibly damaging Het
Tnk1 A G 11: 69,747,749 (GRCm39) M51T probably damaging Het
Trpm2 C T 10: 77,771,776 (GRCm39) R621H probably damaging Het
Ubd G T 17: 37,506,420 (GRCm39) R102L probably benign Het
Vmn2r103 G T 17: 20,014,389 (GRCm39) A394S probably benign Het
Zfp324 T A 7: 12,704,773 (GRCm39) C321S probably damaging Het
Zfp488 G T 14: 33,692,777 (GRCm39) Q129K probably benign Het
Zmpste24 T A 4: 120,918,297 (GRCm39) N442Y probably damaging Het
Other mutations in Sgpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Sgpl1 APN 10 60,936,687 (GRCm39) missense probably benign 0.00
IGL01376:Sgpl1 APN 10 60,949,849 (GRCm39) missense probably damaging 1.00
IGL01954:Sgpl1 APN 10 60,936,672 (GRCm39) missense probably benign 0.00
IGL02797:Sgpl1 APN 10 60,937,507 (GRCm39) missense probably benign 0.01
R0034:Sgpl1 UTSW 10 60,938,392 (GRCm39) missense probably damaging 0.97
R0309:Sgpl1 UTSW 10 60,949,216 (GRCm39) critical splice donor site probably null
R0647:Sgpl1 UTSW 10 60,949,267 (GRCm39) missense probably damaging 1.00
R1496:Sgpl1 UTSW 10 60,938,368 (GRCm39) missense probably damaging 1.00
R1603:Sgpl1 UTSW 10 60,941,230 (GRCm39) missense possibly damaging 0.95
R1941:Sgpl1 UTSW 10 60,939,086 (GRCm39) missense probably damaging 1.00
R4097:Sgpl1 UTSW 10 60,939,017 (GRCm39) missense probably damaging 1.00
R4392:Sgpl1 UTSW 10 60,940,231 (GRCm39) splice site probably benign
R4798:Sgpl1 UTSW 10 60,959,123 (GRCm39) missense possibly damaging 0.83
R4849:Sgpl1 UTSW 10 60,940,297 (GRCm39) missense probably benign 0.00
R4882:Sgpl1 UTSW 10 60,948,044 (GRCm39) missense probably damaging 1.00
R4962:Sgpl1 UTSW 10 60,949,863 (GRCm39) missense probably damaging 1.00
R6395:Sgpl1 UTSW 10 60,947,936 (GRCm39) splice site probably null
R7767:Sgpl1 UTSW 10 60,953,502 (GRCm39) missense possibly damaging 0.50
R7947:Sgpl1 UTSW 10 60,942,121 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16