Incidental Mutation 'IGL01982:Cers1'
ID 182773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cers1
Ensembl Gene ENSMUSG00000087408
Gene Name ceramide synthase 1
Synonyms Uog-1, to, CerS1, Lass1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # IGL01982
Quality Score
Status
Chromosome 8
Chromosomal Location 70768425-70784238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70776081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 324 (D324G)
Ref Sequence ENSEMBL: ENSMUSP00000120598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140239] [ENSMUST00000165819]
AlphaFold P20863
P27545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136257
Predicted Effect probably damaging
Transcript: ENSMUST00000140239
AA Change: D324G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120598
Gene: ENSMUSG00000087408
AA Change: D324G

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,385,857 (GRCm39) S254A probably benign Het
Abca7 T G 10: 79,838,475 (GRCm39) L583R probably damaging Het
Acp1 A T 12: 30,961,491 (GRCm39) L14H possibly damaging Het
Adar A G 3: 89,645,397 (GRCm39) I3V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,536,845 (GRCm39) I103V probably benign Het
Asic3 C A 5: 24,622,719 (GRCm39) T523N probably benign Het
Aspm T C 1: 139,419,326 (GRCm39) V1732A probably benign Het
Atad3a C T 4: 155,838,384 (GRCm39) R211Q possibly damaging Het
Bahcc1 A G 11: 120,178,299 (GRCm39) Y2286C probably damaging Het
BC034090 T C 1: 155,099,078 (GRCm39) E569G probably damaging Het
Bpifb3 A G 2: 153,767,521 (GRCm39) N237S probably benign Het
Bysl C A 17: 47,921,996 (GRCm39) probably null Het
C2cd6 T C 1: 59,106,932 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,861,003 (GRCm39) F925L probably damaging Het
Cdca2 A T 14: 67,915,168 (GRCm39) V697E probably damaging Het
Ctsq T A 13: 61,186,732 (GRCm39) I91F probably benign Het
Ctsq C T 13: 61,187,335 (GRCm39) C11Y probably benign Het
Cyp11b1 T C 15: 74,711,252 (GRCm39) N142S possibly damaging Het
Cyp3a59 G T 5: 146,041,545 (GRCm39) S363I probably benign Het
Eps15l1 A T 8: 73,132,919 (GRCm39) D567E probably benign Het
Esf1 G A 2: 140,006,448 (GRCm39) A233V probably benign Het
Fras1 A T 5: 96,887,107 (GRCm39) I2630F possibly damaging Het
Fyb1 A T 15: 6,609,658 (GRCm39) E77V probably null Het
Gjb6 C A 14: 57,362,030 (GRCm39) W77L probably damaging Het
Gm21983 A G 7: 26,879,703 (GRCm39) V88A possibly damaging Het
Gm8247 A G 14: 44,823,088 (GRCm39) T52A probably damaging Het
Gpr108 T C 17: 57,544,877 (GRCm39) K329E probably damaging Het
Gpr141 T A 13: 19,935,908 (GRCm39) H289L probably benign Het
Ilvbl T C 10: 78,414,856 (GRCm39) Y240H probably damaging Het
Kntc1 G A 5: 123,947,159 (GRCm39) A1868T probably benign Het
Lrmda A C 14: 22,634,550 (GRCm39) N112T probably damaging Het
Ly75 T C 2: 60,142,108 (GRCm39) Y1334C probably damaging Het
Macc1 C A 12: 119,409,369 (GRCm39) P46T probably benign Het
Madd A T 2: 91,006,052 (GRCm39) F381Y probably damaging Het
Map3k20 C T 2: 72,128,677 (GRCm39) Q38* probably null Het
Mcm4 A T 16: 15,448,284 (GRCm39) D424E possibly damaging Het
Micu1 T A 10: 59,699,100 (GRCm39) M463K possibly damaging Het
Mkrn2os A G 6: 115,562,492 (GRCm39) L157P probably damaging Het
Nectin2 A G 7: 19,451,487 (GRCm39) S516P probably damaging Het
Nme5 T A 18: 34,702,928 (GRCm39) D120V probably damaging Het
Npy4r T C 14: 33,869,282 (GRCm39) N2S possibly damaging Het
Nup107 A T 10: 117,595,245 (GRCm39) probably benign Het
Omd T C 13: 49,742,973 (GRCm39) Y8H possibly damaging Het
Phf8-ps T G 17: 33,285,289 (GRCm39) E504D probably benign Het
Ppp1r15a T C 7: 45,173,803 (GRCm39) probably benign Het
Ppp2ca T C 11: 51,989,891 (GRCm39) F6L probably benign Het
Rab1a T C 11: 20,174,717 (GRCm39) S97P probably benign Het
Ranbp3l G A 15: 9,058,827 (GRCm39) G359R probably damaging Het
Rnf213 A T 11: 119,334,094 (GRCm39) H3101L probably damaging Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Slco4a1 T C 2: 180,114,946 (GRCm39) V623A probably benign Het
Spart T A 3: 55,035,911 (GRCm39) probably null Het
Sptan1 A G 2: 29,909,980 (GRCm39) D1780G probably damaging Het
Tgm7 G T 2: 120,924,106 (GRCm39) Y605* probably null Het
Tmem106b T C 6: 13,071,968 (GRCm39) probably benign Het
Trak2 G A 1: 58,965,814 (GRCm39) A120V possibly damaging Het
Trappc8 G A 18: 21,007,769 (GRCm39) probably benign Het
Trim66 T C 7: 109,057,970 (GRCm39) T973A probably benign Het
Ttyh3 C A 5: 140,621,829 (GRCm39) probably benign Het
Ugt2b37 A C 5: 87,390,291 (GRCm39) I385S probably damaging Het
Usf3 A G 16: 44,039,180 (GRCm39) N1220S possibly damaging Het
Utrn A T 10: 12,623,773 (GRCm39) I155N probably damaging Het
Vps13b C T 15: 35,439,050 (GRCm39) Q377* probably null Het
Washc2 A T 6: 116,213,150 (GRCm39) E570D probably benign Het
Wscd1 T C 11: 71,657,699 (GRCm39) V168A possibly damaging Het
Zfp386 T A 12: 116,022,788 (GRCm39) C169S probably benign Het
Other mutations in Cers1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Cers1 APN 8 70,775,883 (GRCm39) missense probably damaging 1.00
IGL02827:Cers1 APN 8 70,774,177 (GRCm39) missense probably damaging 1.00
R1025:Cers1 UTSW 8 70,774,186 (GRCm39) missense probably benign 0.44
R1456:Cers1 UTSW 8 70,783,838 (GRCm39) missense probably damaging 1.00
R1467:Cers1 UTSW 8 70,775,819 (GRCm39) missense possibly damaging 0.89
R1467:Cers1 UTSW 8 70,775,819 (GRCm39) missense possibly damaging 0.89
R1764:Cers1 UTSW 8 70,774,141 (GRCm39) splice site probably null
R2397:Cers1 UTSW 8 70,774,186 (GRCm39) missense probably benign 0.44
R3107:Cers1 UTSW 8 70,775,286 (GRCm39) missense probably benign 0.30
R3808:Cers1 UTSW 8 70,782,660 (GRCm39) missense possibly damaging 0.85
R3809:Cers1 UTSW 8 70,782,660 (GRCm39) missense possibly damaging 0.85
R4789:Cers1 UTSW 8 70,776,018 (GRCm39) missense probably damaging 0.96
R5450:Cers1 UTSW 8 70,770,947 (GRCm39) missense probably damaging 0.99
R5987:Cers1 UTSW 8 70,774,228 (GRCm39) missense possibly damaging 0.78
R6274:Cers1 UTSW 8 70,783,727 (GRCm39) missense probably damaging 1.00
R6535:Cers1 UTSW 8 70,782,804 (GRCm39) missense probably damaging 1.00
R7060:Cers1 UTSW 8 70,768,555 (GRCm39) missense possibly damaging 0.86
R7152:Cers1 UTSW 8 70,770,901 (GRCm39) missense probably damaging 1.00
R8338:Cers1 UTSW 8 70,783,772 (GRCm39) missense possibly damaging 0.92
R8371:Cers1 UTSW 8 70,782,223 (GRCm39) missense probably benign
R8524:Cers1 UTSW 8 70,783,898 (GRCm39) missense probably damaging 1.00
Z1176:Cers1 UTSW 8 70,770,968 (GRCm39) missense probably benign 0.07
Posted On 2014-05-07