Incidental Mutation 'BB017:Cerk'
ID 642977
Institutional Source Beutler Lab
Gene Symbol Cerk
Ensembl Gene ENSMUSG00000035891
Gene Name ceramide kinase
Synonyms D330016D08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # BB017
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 86023329-86070342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86028920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 379 (E379K)
Ref Sequence ENSEMBL: ENSMUSP00000038203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044332] [ENSMUST00000156546]
AlphaFold Q8K4Q7
Predicted Effect possibly damaging
Transcript: ENSMUST00000044332
AA Change: E379K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038203
Gene: ENSMUSG00000035891
AA Change: E379K

DomainStartEndE-ValueType
Blast:PH 8 126 9e-39 BLAST
Pfam:DAGK_cat 132 274 1.1e-31 PFAM
low complexity region 356 367 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000156546
AA Change: E74K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119472
Gene: ENSMUSG00000035891
AA Change: E74K

DomainStartEndE-ValueType
low complexity region 51 62 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null Het
Other mutations in Cerk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Cerk APN 15 86,043,343 (GRCm39) missense probably benign 0.02
IGL01653:Cerk APN 15 86,033,552 (GRCm39) nonsense probably null
IGL01732:Cerk APN 15 86,030,517 (GRCm39) missense possibly damaging 0.68
IGL03107:Cerk APN 15 86,027,014 (GRCm39) missense probably benign 0.00
resnick UTSW 15 86,040,869 (GRCm39) splice site probably null
BB007:Cerk UTSW 15 86,028,920 (GRCm39) missense possibly damaging 0.83
IGL02837:Cerk UTSW 15 86,028,896 (GRCm39) nonsense probably null
R0318:Cerk UTSW 15 86,035,766 (GRCm39) missense possibly damaging 0.89
R0517:Cerk UTSW 15 86,040,849 (GRCm39) missense probably damaging 1.00
R1052:Cerk UTSW 15 86,033,565 (GRCm39) missense possibly damaging 0.95
R1640:Cerk UTSW 15 86,033,601 (GRCm39) missense probably damaging 0.98
R2049:Cerk UTSW 15 86,027,009 (GRCm39) missense probably benign
R2885:Cerk UTSW 15 86,027,084 (GRCm39) missense probably damaging 1.00
R3887:Cerk UTSW 15 86,033,532 (GRCm39) missense possibly damaging 0.95
R3931:Cerk UTSW 15 86,039,311 (GRCm39) nonsense probably null
R4033:Cerk UTSW 15 86,039,228 (GRCm39) missense possibly damaging 0.47
R4234:Cerk UTSW 15 86,026,989 (GRCm39) missense probably benign 0.00
R4945:Cerk UTSW 15 86,040,802 (GRCm39) missense probably benign 0.44
R5742:Cerk UTSW 15 86,025,773 (GRCm39) missense probably damaging 1.00
R6160:Cerk UTSW 15 86,026,974 (GRCm39) missense probably benign 0.43
R6309:Cerk UTSW 15 86,040,869 (GRCm39) splice site probably null
R7002:Cerk UTSW 15 86,040,795 (GRCm39) missense possibly damaging 0.56
R7360:Cerk UTSW 15 86,043,327 (GRCm39) missense probably damaging 1.00
R7930:Cerk UTSW 15 86,028,920 (GRCm39) missense possibly damaging 0.83
R9406:Cerk UTSW 15 86,028,787 (GRCm39) missense possibly damaging 0.80
R9698:Cerk UTSW 15 86,026,995 (GRCm39) missense probably benign 0.30
R9744:Cerk UTSW 15 86,033,491 (GRCm39) missense probably damaging 1.00
X0067:Cerk UTSW 15 86,030,547 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AATGTGAATGACCTCGGGG -3'
(R):5'- TGCTCCCTATAAGACCTTCTGAG -3'

Sequencing Primer
(F):5'- CGTGTGCCGGATGAGGAATC -3'
(R):5'- CTTCTGAGGTCCCGAGGTGAG -3'
Posted On 2020-08-01