Incidental Mutation 'IGL03261:Cidec'
ID 414824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cidec
Ensembl Gene ENSMUSG00000030278
Gene Name cell death-inducing DFFA-like effector c
Synonyms Fsp27, CIDE-3, CIDE-3alpha
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL03261
Quality Score
Status
Chromosome 6
Chromosomal Location 113401595-113412721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113410133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Ref Sequence ENSEMBL: ENSMUSP00000122068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032416] [ENSMUST00000113089] [ENSMUST00000113091] [ENSMUST00000133348]
AlphaFold P56198
Predicted Effect probably benign
Transcript: ENSMUST00000032416
AA Change: V32A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032416
Gene: ENSMUSG00000030278
AA Change: V32A

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
CAD 43 116 7.93e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113089
AA Change: V32A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108712
Gene: ENSMUSG00000030278
AA Change: V32A

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
CAD 43 116 7.93e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113091
AA Change: V42A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108714
Gene: ENSMUSG00000030278
AA Change: V42A

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
CAD 53 126 7.93e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133348
AA Change: V32A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122068
Gene: ENSMUSG00000030278
AA Change: V32A

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:CIDE-N 41 83 2.1e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Nullizygous mice exhibit leaness, high energy expenditure, improved glucose tolerance, altered brown adipocytes, and multilocular fat droplets with enhanced mitochondrial activity and lipolysis in white adipocytes, and may show resistance to age related and diet-induced obesity and liver steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T G 7: 27,279,863 (GRCm39) Y281* probably null Het
Adamts3 T C 5: 90,030,756 (GRCm39) probably benign Het
Afp T C 5: 90,639,610 (GRCm39) probably null Het
Ap1g2 T C 14: 55,337,987 (GRCm39) T634A probably benign Het
Dip2a G A 10: 76,140,982 (GRCm39) P315S possibly damaging Het
Hoxc11 T C 15: 102,863,178 (GRCm39) V73A probably benign Het
Jmjd1c A G 10: 67,067,849 (GRCm39) Y1784C probably damaging Het
Mmp21 A G 7: 133,276,403 (GRCm39) V480A probably benign Het
Nek4 C T 14: 30,697,247 (GRCm39) T471I probably benign Het
Nr4a2 A G 2: 57,000,199 (GRCm39) V299A probably benign Het
Or14j8 A T 17: 38,263,697 (GRCm39) S73T possibly damaging Het
Or6c5 A G 10: 129,074,272 (GRCm39) T85A possibly damaging Het
Ptprg A G 14: 12,225,552 (GRCm38) D505G probably damaging Het
Rag2 A G 2: 101,460,608 (GRCm39) D306G probably damaging Het
Rpap2 T A 5: 107,746,426 (GRCm39) S38T possibly damaging Het
Scart2 A G 7: 139,874,746 (GRCm39) H408R probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Slx4ip A T 2: 136,888,659 (GRCm39) R113S probably benign Het
Smyd5 T A 6: 85,409,000 (GRCm39) M5K probably benign Het
Stkld1 A T 2: 26,842,789 (GRCm39) H587L probably benign Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tex16 C A X: 111,028,552 (GRCm39) D350E possibly damaging Het
Tex38 T C 4: 115,637,723 (GRCm39) K27E possibly damaging Het
Trdv4 T C 14: 54,312,875 (GRCm39) L83P possibly damaging Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Vmn1r120 A G 7: 20,787,450 (GRCm39) L87P probably damaging Het
Zfp236 T C 18: 82,648,733 (GRCm39) D916G possibly damaging Het
Other mutations in Cidec
AlleleSourceChrCoordTypePredicted EffectPPH Score
auklet UTSW 6 113,405,359 (GRCm39) missense probably benign
R1994:Cidec UTSW 6 113,405,193 (GRCm39) missense probably damaging 1.00
R2079:Cidec UTSW 6 113,402,615 (GRCm39) missense probably benign 0.00
R3121:Cidec UTSW 6 113,405,086 (GRCm39) missense probably benign
R4560:Cidec UTSW 6 113,405,399 (GRCm39) missense probably damaging 1.00
R4775:Cidec UTSW 6 113,411,695 (GRCm39) start codon destroyed probably null 0.53
R5513:Cidec UTSW 6 113,405,140 (GRCm39) missense probably damaging 1.00
R5906:Cidec UTSW 6 113,405,282 (GRCm39) splice site probably null
R7287:Cidec UTSW 6 113,405,359 (GRCm39) missense probably benign
R7702:Cidec UTSW 6 113,411,415 (GRCm39) missense possibly damaging 0.93
Z1177:Cidec UTSW 6 113,411,457 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02