Incidental Mutation 'R5513:Cidec'
ID 440176
Institutional Source Beutler Lab
Gene Symbol Cidec
Ensembl Gene ENSMUSG00000030278
Gene Name cell death-inducing DFFA-like effector c
Synonyms Fsp27, CIDE-3, CIDE-3alpha
MMRRC Submission 043073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5513 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113401595-113412721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113405140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 177 (Y177N)
Ref Sequence ENSEMBL: ENSMUSP00000108714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032416] [ENSMUST00000113089] [ENSMUST00000113091] [ENSMUST00000133348]
AlphaFold P56198
Predicted Effect probably damaging
Transcript: ENSMUST00000032416
AA Change: Y167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032416
Gene: ENSMUSG00000030278
AA Change: Y167N

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
CAD 43 116 7.93e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113089
AA Change: Y167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108712
Gene: ENSMUSG00000030278
AA Change: Y167N

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
CAD 43 116 7.93e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113091
AA Change: Y177N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108714
Gene: ENSMUSG00000030278
AA Change: Y177N

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
CAD 53 126 7.93e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133348
SMART Domains Protein: ENSMUSP00000122068
Gene: ENSMUSG00000030278

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:CIDE-N 41 83 2.1e-16 PFAM
Meta Mutation Damage Score 0.9318 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (59/61)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,539,623 (GRCm39) probably null Het
Akr1b1 C A 6: 34,293,581 (GRCm39) probably benign Het
Alppl2 T A 1: 87,015,060 (GRCm39) N434Y probably benign Het
Ampd2 A G 3: 107,982,983 (GRCm39) I648T possibly damaging Het
Ankrd11 T C 8: 123,619,259 (GRCm39) E1510G probably benign Het
Ano2 A C 6: 126,016,285 (GRCm39) K939N possibly damaging Het
Arhgef5 A G 6: 43,249,273 (GRCm39) Y8C probably damaging Het
Aspm A T 1: 139,410,136 (GRCm39) I2609F probably damaging Het
Camsap2 A T 1: 136,208,601 (GRCm39) S964T probably benign Het
Cd22 C T 7: 30,566,450 (GRCm39) R823Q probably damaging Het
Cd74 T C 18: 60,944,377 (GRCm39) C196R probably damaging Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Crb1 C T 1: 139,164,559 (GRCm39) probably null Het
Cts7 T C 13: 61,503,398 (GRCm39) K189E possibly damaging Het
Cyp2c68 A T 19: 39,691,850 (GRCm39) Y358N probably damaging Het
Dab2ip A T 2: 35,600,266 (GRCm39) H294L probably benign Het
Dnah6 T C 6: 73,167,402 (GRCm39) D502G probably null Het
Dnah8 T A 17: 30,971,890 (GRCm39) M2768K probably damaging Het
Etl4 C A 2: 20,748,638 (GRCm39) S405R probably damaging Het
Fsip2 G T 2: 82,781,252 (GRCm39) L19F probably damaging Het
Fsip2 T A 2: 82,815,542 (GRCm39) N3758K possibly damaging Het
Fsip2 C G 2: 82,781,256 (GRCm39) Q217E probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Hivep2 A T 10: 14,008,417 (GRCm39) K1672* probably null Het
Igkv2-137 G A 6: 67,532,998 (GRCm39) G54S possibly damaging Het
Ints8 A G 4: 11,248,303 (GRCm39) V105A possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Lrrc8b A G 5: 105,633,850 (GRCm39) K774R probably damaging Het
Mcm4 T A 16: 15,448,378 (GRCm39) Y393F probably benign Het
Mki67 A G 7: 135,309,479 (GRCm39) L324P probably damaging Het
Or4d6 A G 19: 12,086,745 (GRCm39) L55P probably damaging Het
Or52n3 A T 7: 104,530,706 (GRCm39) H264L probably damaging Het
Or5a3 G A 19: 12,400,047 (GRCm39) V125I probably benign Het
Or9s13 T C 1: 92,548,102 (GRCm39) V158A probably benign Het
Pld4 A G 12: 112,728,988 (GRCm39) E19G probably benign Het
Plvap T C 8: 71,964,173 (GRCm39) E63G probably damaging Het
Ppig A G 2: 69,580,703 (GRCm39) T746A probably benign Het
Prdm2 GCTCCTCCTCCTCCTCCTCCTCCTC GCTCCTCCTCCTCCTCCTCCTC 4: 142,862,463 (GRCm39) probably benign Het
Rbm15b A G 9: 106,763,316 (GRCm39) L284P probably benign Het
Relch G A 1: 105,678,698 (GRCm39) V1130I probably damaging Het
Rhbdl3 T C 11: 80,222,668 (GRCm39) V239A probably damaging Het
Sae1 T C 7: 16,100,781 (GRCm39) E197G probably benign Het
Sdhaf2 C T 19: 10,494,394 (GRCm39) R105H probably damaging Het
Senp3 T C 11: 69,567,965 (GRCm39) D425G probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc46a1 T C 11: 78,357,376 (GRCm39) F143S probably benign Het
Tom1 T A 8: 75,783,848 (GRCm39) N52K probably damaging Het
Vmn1r11 A T 6: 57,114,617 (GRCm39) T94S probably damaging Het
Zfp236 A G 18: 82,676,147 (GRCm39) I390T probably damaging Het
Zfp709 A T 8: 72,643,900 (GRCm39) H443L probably damaging Het
Zfp960 C T 17: 17,307,996 (GRCm39) P237S possibly damaging Het
Other mutations in Cidec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03261:Cidec APN 6 113,410,133 (GRCm39) missense probably benign 0.13
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
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
Predicted Primers PCR Primer
(F):5'- ATTCTTTGTTAGCCCCAGCG -3'
(R):5'- CATGTTCATGGTCCTGCTGAAG -3'

Sequencing Primer
(F):5'- TGTTAGCCCCAGCGTCCAC -3'
(R):5'- ATCAGAACAGGTGACGGCCTTC -3'
Posted On 2016-11-08