Incidental Mutation 'IGL02827:Cers1'
ID361264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cers1
Ensembl Gene ENSMUSG00000087408
Gene Nameceramide synthase 1
SynonymsCerS1, to, Uog-1, Lass1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.349) question?
Stock #IGL02827
Quality Score
Status
Chromosome8
Chromosomal Location70315775-70331592 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 70321527 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 145 (P145S)
Ref Sequence ENSEMBL: ENSMUSP00000120598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140239] [ENSMUST00000165819]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136257
Predicted Effect probably damaging
Transcript: ENSMUST00000140239
AA Change: P145S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
AA Change: P145S

DomainStartEndE-ValueType
low complexity region 49 68 N/A INTRINSIC
TLC 97 311 1.24e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165819
SMART Domains Protein: ENSMUSP00000128325
Gene: ENSMUSG00000087408

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:TGFb_propeptide 33 169 7e-16 PFAM
low complexity region 225 237 N/A INTRINSIC
TGFB 251 357 6.22e-56 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Mice lacking a functional copy of this gene exhibit impaired cerebellar development, locomotion and motor coordination. This protein is transcribed from a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 80,009,865 S1554P probably damaging Het
Actn2 A T 13: 12,275,199 L152Q probably damaging Het
Afg3l2 T C 18: 67,425,945 I369V probably damaging Het
Aqp6 G A 15: 99,603,011 G199S probably damaging Het
Asgr2 A G 11: 70,096,897 I74V probably benign Het
Cebpz T C 17: 78,929,331 R702G probably damaging Het
Ddx21 T C 10: 62,598,374 K202R probably benign Het
Gm13119 C T 4: 144,363,761 A457V probably damaging Het
Gphn A T 12: 78,609,220 D407V probably damaging Het
Hnf1b A G 11: 83,855,926 K123E probably damaging Het
Ifitm10 T C 7: 142,328,580 D151G unknown Het
Ifna14 T A 4: 88,571,364 K145N probably benign Het
Lamc2 C T 1: 153,139,781 C602Y probably damaging Het
Mrps25 T C 6: 92,175,182 E119G probably benign Het
Olfr1331 A T 4: 118,868,960 M60L probably damaging Het
Olfr1366 A G 13: 21,537,358 S216P probably benign Het
Pgm5 C A 19: 24,709,295 R516L probably benign Het
Rmnd5b A G 11: 51,628,022 L48P possibly damaging Het
Samd4b G A 7: 28,414,121 R140C probably damaging Het
Sema3d T C 5: 12,585,118 I717T probably benign Het
Sh3tc2 G A 18: 62,013,159 S1203N probably benign Het
Smpdl3a A G 10: 57,802,496 T132A probably damaging Het
Stard13 T C 5: 151,063,126 I188M probably benign Het
Stk17b T C 1: 53,776,542 T33A probably benign Het
Stxbp3 A T 3: 108,809,895 I264N probably damaging Het
Tmem60 T A 5: 20,886,624 F129Y probably damaging Het
Trpm1 A G 7: 64,219,160 D404G probably null Het
Unc79 A C 12: 103,074,846 S713R possibly damaging Het
Uox A C 3: 146,597,196 probably benign Het
Vmn2r68 T C 7: 85,237,592 D38G probably damaging Het
Vps13a T C 19: 16,641,634 D2856G possibly damaging Het
Vsig10l T C 7: 43,464,869 L205P probably damaging Het
Other mutations in Cers1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Cers1 APN 8 70323233 missense probably damaging 1.00
IGL01982:Cers1 APN 8 70323431 missense probably damaging 0.99
R1025:Cers1 UTSW 8 70321536 missense probably benign 0.44
R1456:Cers1 UTSW 8 70331188 missense probably damaging 1.00
R1467:Cers1 UTSW 8 70323169 missense possibly damaging 0.89
R1467:Cers1 UTSW 8 70323169 missense possibly damaging 0.89
R1764:Cers1 UTSW 8 70321491 splice site probably null
R2397:Cers1 UTSW 8 70321536 missense probably benign 0.44
R3107:Cers1 UTSW 8 70322636 missense probably benign 0.30
R3808:Cers1 UTSW 8 70330010 missense possibly damaging 0.85
R3809:Cers1 UTSW 8 70330010 missense possibly damaging 0.85
R4789:Cers1 UTSW 8 70323368 missense probably damaging 0.96
R5450:Cers1 UTSW 8 70318297 missense probably damaging 0.99
R5987:Cers1 UTSW 8 70321578 missense possibly damaging 0.78
R6274:Cers1 UTSW 8 70331077 missense probably damaging 1.00
R6535:Cers1 UTSW 8 70330154 missense probably damaging 1.00
R7060:Cers1 UTSW 8 70315905 missense possibly damaging 0.86
R7152:Cers1 UTSW 8 70318251 missense probably damaging 1.00
R8338:Cers1 UTSW 8 70331122 missense possibly damaging 0.92
R8371:Cers1 UTSW 8 70329573 missense probably benign
Z1176:Cers1 UTSW 8 70318318 missense probably benign 0.07
Posted On2015-12-18