Incidental Mutation 'R3121:Cidec'
ID 263224
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 040594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R3121 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113401595-113412721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 113405086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 195 (V195L)
Ref Sequence ENSEMBL: ENSMUSP00000108714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032416] [ENSMUST00000113089] [ENSMUST00000113091] [ENSMUST00000133348]
AlphaFold P56198
Predicted Effect probably benign
Transcript: ENSMUST00000032416
AA Change: V185L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032416
Gene: ENSMUSG00000030278
AA Change: V185L

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: V185L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108712
Gene: ENSMUSG00000030278
AA Change: V185L

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: V195L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108714
Gene: ENSMUSG00000030278
AA Change: V195L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (52/52)
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
Abcg5 A T 17: 84,966,091 (GRCm39) M423K probably benign Het
Adamtsl1 T A 4: 86,255,246 (GRCm39) W780R probably damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Amph T A 13: 19,297,316 (GRCm39) L354* probably null Het
Ankk1 G A 9: 49,338,267 (GRCm39) L9F probably benign Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Bzw2 A C 12: 36,170,788 (GRCm39) probably null Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc50 G T 16: 27,228,139 (GRCm39) R102L possibly damaging Het
Cep83 T C 10: 94,622,700 (GRCm39) V592A probably damaging Het
Cgn G A 3: 94,685,792 (GRCm39) probably benign Het
Cntln A G 4: 84,923,289 (GRCm39) probably benign Het
Cntrob A T 11: 69,213,526 (GRCm39) L88* probably null Het
Dnah17 C T 11: 117,931,912 (GRCm39) V3687M probably damaging Het
Dst T C 1: 34,328,729 (GRCm39) I4599T probably damaging Het
Dtl A T 1: 191,285,175 (GRCm39) Y320* probably null Het
Fam98b A G 2: 117,098,408 (GRCm39) T293A probably damaging Het
Farp1 G A 14: 121,460,138 (GRCm39) probably benign Het
Fat2 G T 11: 55,202,622 (GRCm39) P151T probably damaging Het
Fbxl17 A T 17: 63,778,419 (GRCm39) M497K probably damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm525 C T 11: 88,979,374 (GRCm39) probably benign Het
Golga4 C A 9: 118,386,448 (GRCm39) T1190K possibly damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Homez T C 14: 55,094,778 (GRCm39) E310G probably benign Het
Hydin A G 8: 111,233,138 (GRCm39) I1746V probably benign Het
Igkv1-35 T A 6: 69,988,641 (GRCm39) H6L probably benign Het
Kcnt2 T C 1: 140,356,622 (GRCm39) S354P probably damaging Het
Khdc4 A G 3: 88,596,599 (GRCm39) T127A probably damaging Het
Klra4 G T 6: 130,040,141 (GRCm39) Q44K probably benign Het
L3mbtl3 A G 10: 26,220,119 (GRCm39) probably benign Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Magea14 A T X: 51,057,968 (GRCm39) Y239* probably null Het
Map3k9 A G 12: 81,790,698 (GRCm39) I285T probably damaging Het
Or4a47 T A 2: 89,665,858 (GRCm39) I144L probably benign Het
Or6c6 A G 10: 129,186,552 (GRCm39) N40S possibly damaging Het
Pcdhb16 A T 18: 37,611,271 (GRCm39) Q77L possibly damaging Het
Pramel20 T A 4: 143,297,583 (GRCm39) M1K probably null Het
Proser3 A G 7: 30,239,796 (GRCm39) V436A probably benign Het
Relch A G 1: 105,653,524 (GRCm39) N834S probably benign Het
Resf1 T A 6: 149,230,741 (GRCm39) C1262* probably null Het
Sec24b C T 3: 129,795,953 (GRCm39) probably null Het
Slc2a2 A G 3: 28,775,898 (GRCm39) Q336R probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Spidr T C 16: 15,958,724 (GRCm39) K13E probably damaging Het
Tiam2 T A 17: 3,489,977 (GRCm39) M786K probably benign Het
Tktl2 T A 8: 66,964,808 (GRCm39) V122E probably damaging Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Zbbx T C 3: 74,989,153 (GRCm39) T317A possibly damaging Het
Zfp976 A G 7: 42,262,938 (GRCm39) C300R probably 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
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
Predicted Primers PCR Primer
(F):5'- ACTATGCAAAGTTTACGTTTGGGG -3'
(R):5'- AGCTAGCCCTTTCCCAGAAG -3'

Sequencing Primer
(F):5'- GTACTTTGCTAAACTAGAAAGAAGCC -3'
(R):5'- GCCAACTAAGAAGATCGATGTGGC -3'
Posted On 2015-02-05