Incidental Mutation 'R1586:Cidea'
ID 177535
Institutional Source Beutler Lab
Gene Symbol Cidea
Ensembl Gene ENSMUSG00000024526
Gene Name cell death-inducing DNA fragmentation factor, alpha subunit-like effector A
Synonyms
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1586 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 67476674-67500855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67493230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 83 (V83E)
Ref Sequence ENSEMBL: ENSMUSP00000025404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025404]
AlphaFold O70302
Predicted Effect probably damaging
Transcript: ENSMUST00000025404
AA Change: V83E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025404
Gene: ENSMUSG00000024526
AA Change: V83E

DomainStartEndE-ValueType
CAD 35 108 9.62e-48 SMART
Meta Mutation Damage Score 0.1560 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]
PHENOTYPE: Nullizygous mice show higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment. They are lean and resistant to diet-induced obesity. Aging homozygotes exhibit dry eyes and hair, reduced sebaceous lipid secretion, hair loss, and poor water repulsion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Guk1 A G 11: 59,077,675 (GRCm39) S22P probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rpl7 A T 1: 16,172,807 (GRCm39) S171T probably benign Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Slc35a4 T C 18: 36,816,058 (GRCm39) V296A probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Speer4b A G 5: 27,702,011 (GRCm39) S250P probably damaging Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tbcd A G 11: 121,387,886 (GRCm39) Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Tomm5 A G 4: 45,107,915 (GRCm39) probably null Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F probably damaging Het
Other mutations in Cidea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Cidea APN 18 67,499,581 (GRCm39) missense probably damaging 1.00
R1702:Cidea UTSW 18 67,499,491 (GRCm39) missense probably damaging 1.00
R4559:Cidea UTSW 18 67,493,298 (GRCm39) nonsense probably null
R4702:Cidea UTSW 18 67,500,498 (GRCm39) missense probably benign 0.30
R5153:Cidea UTSW 18 67,500,490 (GRCm39) missense probably damaging 1.00
R5384:Cidea UTSW 18 67,493,236 (GRCm39) missense probably damaging 1.00
R6223:Cidea UTSW 18 67,491,809 (GRCm39) missense possibly damaging 0.82
R7223:Cidea UTSW 18 67,499,491 (GRCm39) missense probably damaging 1.00
R7593:Cidea UTSW 18 67,493,283 (GRCm39) missense probably benign 0.00
R7866:Cidea UTSW 18 67,491,854 (GRCm39) missense probably damaging 1.00
R8738:Cidea UTSW 18 67,499,485 (GRCm39) nonsense probably null
Z1176:Cidea UTSW 18 67,491,923 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CGCATAACAGGCAGTCGTGGAAAC -3'
(R):5'- CAGTGCTAAACCAGACAGTACGCTC -3'

Sequencing Primer
(F):5'- CTAGGGAGAGAGCACTCCATTC -3'
(R):5'- CAGTACGCTCATAGGTAGAATGTC -3'
Posted On 2014-04-24