Incidental Mutation 'R3011:Cers5'
ID477400
Institutional Source Beutler Lab
Gene Symbol Cers5
Ensembl Gene ENSMUSG00000023021
Gene Nameceramide synthase 5
SynonymsCerS5, Trh4, 2310081H14Rik, Lass5
MMRRC Submission 040533-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3011 (G1)
Quality Score190
Status Not validated
Chromosome15
Chromosomal Location99734881-99772885 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 99772717 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023762] [ENSMUST00000109035] [ENSMUST00000175876] [ENSMUST00000176248] [ENSMUST00000176627]
Predicted Effect probably benign
Transcript: ENSMUST00000023762
SMART Domains Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:TLC 24 66 9e-17 BLAST
HOX 78 140 5.6e-2 SMART
TLC 139 340 4.35e-76 SMART
low complexity region 343 361 N/A INTRINSIC
low complexity region 366 382 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109035
SMART Domains Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:TLC 24 66 6e-17 BLAST
HOX 78 140 5.6e-2 SMART
TLC 139 340 4.35e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168951
Predicted Effect unknown
Transcript: ENSMUST00000175876
AA Change: M3T
SMART Domains Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: M3T

DomainStartEndE-ValueType
HOX 29 91 5.6e-2 SMART
TLC 90 241 1.29e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176248
SMART Domains Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Blast:TLC 24 66 9e-18 BLAST
HOX 78 140 2.8e-4 SMART
TLC 139 251 1.7e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176627
SMART Domains Protein: ENSMUSP00000134988
Gene: ENSMUSG00000023021

DomainStartEndE-ValueType
HOX 27 89 5.6e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik C A 8: 84,166,910 Y235* probably null Het
Arhgap31 A C 16: 38,601,907 C1266G possibly damaging Het
Clasp2 C T 9: 113,901,513 T905M probably damaging Het
Clec16a A G 16: 10,611,111 N469S probably benign Het
Commd3 T A 2: 18,674,688 V128D probably damaging Het
Cped1 A G 6: 22,088,696 T253A probably damaging Het
Dnajc5b A T 3: 19,546,802 Y21F probably damaging Het
Fam160b1 T A 19: 57,385,288 L660Q probably damaging Het
Gm14403 A G 2: 177,508,993 D244G probably benign Het
Gm5414 T C 15: 101,625,612 D312G probably damaging Het
Gm884 T A 11: 103,613,103 T504S possibly damaging Het
Ifi204 T C 1: 173,751,651 S543G probably benign Het
Itga11 T A 9: 62,696,980 I50N probably damaging Het
Lct C T 1: 128,301,372 V795I possibly damaging Het
Map2 A G 1: 66,414,612 D887G probably damaging Het
Mgat4e T A 1: 134,542,108 D66V possibly damaging Het
Nqo1 C T 8: 107,389,111 R178H probably benign Het
Olfr190 A G 16: 59,074,987 V31A probably benign Het
Olfr70 G T 4: 43,696,624 A183E probably damaging Het
Otof G A 5: 30,382,840 A999V probably damaging Het
Phf20 A G 2: 156,288,026 D506G probably benign Het
Pth2r C T 1: 65,336,988 H97Y probably benign Het
Snx18 G A 13: 113,616,886 Q504* probably null Het
Sppl2c C T 11: 104,187,315 P314S probably benign Het
Srgap2 T A 1: 131,310,591 Q520L probably damaging Het
Tex11 C A X: 100,933,415 A487S possibly damaging Het
Tlr4 A T 4: 66,839,254 K95* probably null Het
Tmem59l A T 8: 70,486,237 C96S probably damaging Het
Tmtc3 G T 10: 100,447,582 P704T possibly damaging Het
Upp2 T C 2: 58,790,095 V293A probably damaging Het
Vps72 A G 3: 95,119,274 K177E probably damaging Het
Other mutations in Cers5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Cers5 APN 15 99739655 nonsense probably null
coleman UTSW 15 99751238 nonsense probably null
R0178:Cers5 UTSW 15 99747024 splice site probably benign
R0483:Cers5 UTSW 15 99745914 missense probably damaging 1.00
R0589:Cers5 UTSW 15 99740956 missense probably damaging 1.00
R1433:Cers5 UTSW 15 99745931 nonsense probably null
R1757:Cers5 UTSW 15 99736331 missense probably benign 0.31
R2520:Cers5 UTSW 15 99736381 missense probably damaging 0.97
R3008:Cers5 UTSW 15 99772717 unclassified probably benign
R3010:Cers5 UTSW 15 99772717 unclassified probably benign
R4379:Cers5 UTSW 15 99751253 missense probably damaging 1.00
R4732:Cers5 UTSW 15 99741637 missense probably benign 0.38
R4733:Cers5 UTSW 15 99741637 missense probably benign 0.38
R4911:Cers5 UTSW 15 99747079 missense probably damaging 1.00
R5441:Cers5 UTSW 15 99751238 nonsense probably null
R6089:Cers5 UTSW 15 99741002 missense probably benign 0.01
R6161:Cers5 UTSW 15 99738663 critical splice donor site probably null
R6247:Cers5 UTSW 15 99745924 missense probably benign 0.03
R6300:Cers5 UTSW 15 99772219 missense probably damaging 1.00
R6312:Cers5 UTSW 15 99747115 missense probably benign 0.11
R6861:Cers5 UTSW 15 99772363 unclassified probably benign
Predicted Primers
Posted On2017-05-15