Incidental Mutation 'R9256:Cers6'
ID 726279
Institutional Source Beutler Lab
Gene Symbol Cers6
Ensembl Gene ENSMUSG00000027035
Gene Name ceramide synthase 6
Synonyms similar to TRH1, CerS6, T1L, Lass6, 4732462C07Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R9256 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 68691785-68944626 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 68777706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028426] [ENSMUST00000176018]
AlphaFold Q8C172
Predicted Effect probably benign
Transcript: ENSMUST00000028426
SMART Domains Protein: ENSMUSP00000028426
Gene: ENSMUSG00000027035

DomainStartEndE-ValueType
Blast:TLC 10 57 6e-7 BLAST
HOX 73 131 2.92e-2 SMART
TLC 130 331 1.21e-74 SMART
low complexity region 336 353 N/A INTRINSIC
low complexity region 361 373 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176018
SMART Domains Protein: ENSMUSP00000135604
Gene: ENSMUSG00000027035

DomainStartEndE-ValueType
Blast:TLC 10 57 7e-7 BLAST
HOX 73 131 2.92e-2 SMART
TLC 130 331 1.21e-74 SMART
low complexity region 344 361 N/A INTRINSIC
low complexity region 369 381 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (70/71)
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout allele exhibit hind limb clasping, habituation deficit and altered lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,945,930 (GRCm39) Y21C probably damaging Het
Adamts7 A T 9: 90,060,218 (GRCm39) I290F probably damaging Het
Adcy5 G A 16: 35,124,052 (GRCm39) V1244I probably damaging Het
Adnp A T 2: 168,025,945 (GRCm39) I450N probably damaging Het
AL732309.1 A T 2: 25,136,211 (GRCm39) M1K probably null Het
Alox15 C T 11: 70,236,370 (GRCm39) G510D possibly damaging Het
Arhgef16 C A 4: 154,363,502 (GRCm39) E685* probably null Het
Atp13a2 A G 4: 140,730,038 (GRCm39) E643G probably damaging Het
AW554918 C A 18: 25,423,061 (GRCm39) Q171K probably damaging Het
Bdkrb2 A G 12: 105,558,352 (GRCm39) T198A probably benign Het
C7 T C 15: 5,023,645 (GRCm39) E721G probably damaging Het
Cc2d2b T C 19: 40,797,848 (GRCm39) Y823H unknown Het
Cd74 T C 18: 60,944,366 (GRCm39) V192A probably benign Het
Cdc42bpg G A 19: 6,361,067 (GRCm39) A231T probably damaging Het
Copg2 T C 6: 30,788,637 (GRCm39) I555M probably benign Het
Cracd T G 5: 76,988,757 (GRCm39) V36G unknown Het
Crnkl1 A G 2: 145,770,216 (GRCm39) V209A possibly damaging Het
Dock7 T C 4: 98,971,272 (GRCm39) T98A Het
Enpp5 T C 17: 44,396,414 (GRCm39) I442T probably benign Het
Fbxw19 T C 9: 109,310,641 (GRCm39) Y427C probably damaging Het
Fktn T C 4: 53,744,653 (GRCm39) V311A probably benign Het
Fyb1 T G 15: 6,674,358 (GRCm39) S665A possibly damaging Het
Igkv6-20 T C 6: 70,313,417 (GRCm39) Y16C probably benign Het
Ints10 A G 8: 69,261,129 (GRCm39) R370G possibly damaging Het
Iqub A T 6: 24,446,198 (GRCm39) I742N possibly damaging Het
Kcnn3 T C 3: 89,574,407 (GRCm39) Y640H probably damaging Het
Lrp2 A G 2: 69,341,303 (GRCm39) V959A probably benign Het
Marcksl1 A G 4: 129,408,816 (GRCm39) S132G probably benign Het
Mfsd4b3-ps T A 10: 39,824,010 (GRCm39) K83N probably damaging Het
Mib1 A G 18: 10,760,862 (GRCm39) E384G possibly damaging Het
Morn5 G T 2: 35,939,553 (GRCm39) G5W probably damaging Het
Mrpl46 A G 7: 78,432,671 (GRCm39) S36P probably benign Het
Mtif2 T C 11: 29,490,777 (GRCm39) F494L probably benign Het
Naalad2 T C 9: 18,274,534 (GRCm39) N336S probably benign Het
Nepro A G 16: 44,544,790 (GRCm39) N22S probably benign Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Or10x4 C T 1: 174,219,109 (GRCm39) T158I probably benign Het
Or1e1f A T 11: 73,856,135 (GRCm39) I234F probably benign Het
Or2d36 T C 7: 106,747,387 (GRCm39) I288T probably damaging Het
Or8c16 T A 9: 38,130,498 (GRCm39) Y123* probably null Het
Or9r7 A G 10: 129,962,335 (GRCm39) V197A possibly damaging Het
Pcnx1 A T 12: 82,020,047 (GRCm39) N724Y Het
Pde8b G A 13: 95,164,204 (GRCm39) R669C probably damaging Het
Pkhd1l1 T A 15: 44,397,290 (GRCm39) probably null Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Prb1b T C 6: 132,288,972 (GRCm39) N284S unknown Het
Prtg A T 9: 72,758,977 (GRCm39) I444F probably damaging Het
Ptprb A T 10: 116,219,776 (GRCm39) H1998L probably damaging Het
Qrich2 A T 11: 116,356,450 (GRCm39) V133D probably benign Het
Rab35 C A 5: 115,778,246 (GRCm39) R71S probably damaging Het
Scgb2b12 A G 7: 32,026,054 (GRCm39) L46P probably damaging Het
Sdha A T 13: 74,475,483 (GRCm39) probably benign Het
Sdr39u1 C A 14: 56,135,209 (GRCm39) V245F probably benign Het
Sgo2a T A 1: 58,058,772 (GRCm39) V1117E possibly damaging Het
Slc12a2 T C 18: 58,074,867 (GRCm39) S1154P probably damaging Het
Slc6a1 A T 6: 114,287,554 (GRCm39) Q441L possibly damaging Het
Smtnl2 A T 11: 72,293,835 (GRCm39) probably null Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem38b A T 4: 53,848,924 (GRCm39) I110F probably damaging Het
Ubqln1 A G 13: 58,325,721 (GRCm39) I573T probably damaging Het
Usp9y T C Y: 1,356,235 (GRCm39) I1155M possibly damaging Het
Vipr1 A G 9: 121,490,118 (GRCm39) I164V probably benign Het
Vps13b T G 15: 35,623,925 (GRCm39) S1281A possibly damaging Het
Vps13d A G 4: 144,882,374 (GRCm39) L1073P Het
Wipi1 C T 11: 109,473,952 (GRCm39) probably null Het
Zdhhc8 G A 16: 18,042,686 (GRCm39) P505S probably damaging Het
Zfp292 C T 4: 34,839,899 (GRCm39) V84I probably benign Het
Zfp712 T C 13: 67,188,791 (GRCm39) T579A probably benign Het
Zfp788 G A 7: 41,299,638 (GRCm39) R758Q probably benign Het
Other mutations in Cers6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02513:Cers6 APN 2 68,899,013 (GRCm39) missense probably benign
IGL02897:Cers6 APN 2 68,764,877 (GRCm39) nonsense probably null
IGL03299:Cers6 APN 2 68,692,128 (GRCm39) missense probably benign 0.17
R0520:Cers6 UTSW 2 68,935,435 (GRCm39) nonsense probably null
R1280:Cers6 UTSW 2 68,899,033 (GRCm39) missense probably benign 0.06
R2497:Cers6 UTSW 2 68,901,790 (GRCm39) splice site probably benign
R4843:Cers6 UTSW 2 68,899,003 (GRCm39) missense probably benign 0.03
R4931:Cers6 UTSW 2 68,935,456 (GRCm39) missense probably damaging 0.98
R5723:Cers6 UTSW 2 68,938,789 (GRCm39) missense probably benign 0.03
R5973:Cers6 UTSW 2 68,898,969 (GRCm39) splice site probably null
R6058:Cers6 UTSW 2 68,692,008 (GRCm39) missense probably benign 0.12
R6453:Cers6 UTSW 2 68,877,513 (GRCm39) missense probably benign 0.00
R6788:Cers6 UTSW 2 68,938,903 (GRCm39) missense possibly damaging 0.95
R7493:Cers6 UTSW 2 68,692,151 (GRCm39) critical splice donor site probably null
R8055:Cers6 UTSW 2 68,777,625 (GRCm39) missense probably damaging 1.00
R8364:Cers6 UTSW 2 68,692,083 (GRCm39) missense possibly damaging 0.50
R8399:Cers6 UTSW 2 68,692,115 (GRCm39) missense probably benign 0.00
R9670:Cers6 UTSW 2 68,833,114 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAAAATGGTTTCTCTGGTGCC -3'
(R):5'- CAGGCCTTCGAATCTGTCTC -3'

Sequencing Primer
(F):5'- TGGTGCCTTGCTTCACAG -3'
(R):5'- TCTGTCTCCTTGAAGTTACATTAGG -3'
Posted On 2022-09-14