Incidental Mutation 'R1702:Cidea'
ID 189848
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 039735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1702 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 67476674-67500855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67499491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 126 (I126K)
Ref Sequence ENSEMBL: ENSMUSP00000025404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025404]
AlphaFold O70302
Predicted Effect probably damaging
Transcript: ENSMUST00000025404
AA Change: I126K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025404
Gene: ENSMUSG00000024526
AA Change: I126K

DomainStartEndE-ValueType
CAD 35 108 9.62e-48 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,981,925 (GRCm39) V1080A probably benign Het
Abcg4 A C 9: 44,186,370 (GRCm39) V553G probably damaging Het
Ache T C 5: 137,289,251 (GRCm39) V319A possibly damaging Het
Acsm2 T A 7: 119,172,787 (GRCm39) M134K possibly damaging Het
Ank2 A T 3: 126,749,548 (GRCm39) S494T probably benign Het
Asic3 A T 5: 24,620,454 (GRCm39) T202S probably damaging Het
Baiap3 T A 17: 25,463,779 (GRCm39) H886L probably damaging Het
Bltp2 T A 11: 78,179,854 (GRCm39) C2126S probably damaging Het
Cmklr1 T G 5: 113,751,903 (GRCm39) K366T probably benign Het
Cntrl A T 2: 35,061,848 (GRCm39) probably null Het
Crhr2 A G 6: 55,069,520 (GRCm39) F378S probably damaging Het
Deaf1 C G 7: 140,894,867 (GRCm39) R303T probably damaging Het
Dnah9 T A 11: 65,976,021 (GRCm39) N1343Y possibly damaging Het
Dop1b A G 16: 93,544,509 (GRCm39) K99E possibly damaging Het
Dpp4 A T 2: 62,216,773 (GRCm39) probably null Het
Dst T C 1: 34,206,421 (GRCm39) V598A probably damaging Het
Ece2 C T 16: 20,449,996 (GRCm39) R136C probably damaging Het
Efcab3 C T 11: 104,581,832 (GRCm39) P58L probably benign Het
Egf C A 3: 129,484,460 (GRCm39) V453L probably benign Het
Egr3 T A 14: 70,317,216 (GRCm39) F342L probably damaging Het
Eif2ak2 A T 17: 79,164,063 (GRCm39) I434N probably damaging Het
Emc1 A G 4: 139,102,512 (GRCm39) T936A probably damaging Het
Fmod A T 1: 133,968,500 (GRCm39) E180V probably damaging Het
Gabrg3 T C 7: 56,634,848 (GRCm39) T112A probably damaging Het
Gak T C 5: 108,754,242 (GRCm39) probably null Het
Gas2 T A 7: 51,603,089 (GRCm39) probably null Het
Gm2381 T A 7: 42,469,655 (GRCm39) Q156H probably benign Het
Golga2 T A 2: 32,189,287 (GRCm39) S273T probably damaging Het
Homez T A 14: 55,094,452 (GRCm39) T419S probably damaging Het
Igfbp6 T A 15: 102,056,617 (GRCm39) Y184* probably null Het
Il11 A G 7: 4,776,733 (GRCm39) S86P probably damaging Het
Itgal A G 7: 126,904,197 (GRCm39) N270S probably benign Het
Lama2 T C 10: 27,066,525 (GRCm39) R1119G probably benign Het
Lamp3 G T 16: 19,494,822 (GRCm39) N294K probably benign Het
Mars1 T C 10: 127,145,948 (GRCm39) I113M possibly damaging Het
Mgat5b A G 11: 116,839,485 (GRCm39) T334A possibly damaging Het
Mis18bp1 A G 12: 65,208,518 (GRCm39) I65T probably benign Het
Mmrn2 A T 14: 34,119,871 (GRCm39) N247I probably benign Het
Muc6 G T 7: 141,236,752 (GRCm39) N322K probably damaging Het
Mx2 A G 16: 97,359,883 (GRCm39) H551R probably benign Het
Mylk T A 16: 34,742,314 (GRCm39) V942E probably benign Het
Nes A G 3: 87,883,286 (GRCm39) E515G probably benign Het
Nfatc3 T G 8: 106,818,792 (GRCm39) S503R probably damaging Het
Nkain3 C A 4: 20,158,339 (GRCm39) probably null Het
Noxa1 A G 2: 24,982,596 (GRCm39) V73A probably damaging Het
Nup160 A T 2: 90,514,302 (GRCm39) E83D probably damaging Het
Or12j3 A T 7: 139,952,655 (GRCm39) Y289* probably null Het
Or4z4 C A 19: 12,076,530 (GRCm39) V158L probably benign Het
Or5ac23 C A 16: 59,149,504 (GRCm39) V123L probably benign Het
Or8b56 A G 9: 38,739,839 (GRCm39) Y284C probably damaging Het
Plxnb2 A G 15: 89,046,187 (GRCm39) probably null Het
Rundc3b A G 5: 8,562,318 (GRCm39) V350A probably benign Het
Scn1a C T 2: 66,148,567 (GRCm39) D993N probably damaging Het
Sec24c G T 14: 20,736,641 (GRCm39) G226V probably null Het
Septin11 T A 5: 93,304,783 (GRCm39) I200N probably damaging Het
Shank3 G T 15: 89,384,099 (GRCm39) G14C probably damaging Het
Skic3 A G 13: 76,270,862 (GRCm39) K153R possibly damaging Het
Slc25a39 T C 11: 102,297,452 (GRCm39) D5G possibly damaging Het
Stoml3 A T 3: 53,412,852 (GRCm39) T169S probably benign Het
Taf1b T A 12: 24,559,125 (GRCm39) I83K possibly damaging Het
Tarbp1 T A 8: 127,154,957 (GRCm39) Q1389L probably damaging Het
Thbs1 T A 2: 117,943,923 (GRCm39) D180E probably benign Het
Tmc5 T A 7: 118,271,462 (GRCm39) V925D probably benign Het
Tmem62 T C 2: 120,809,708 (GRCm39) V130A probably damaging Het
Tpp2 C T 1: 44,029,708 (GRCm39) P997L probably damaging Het
Trip12 A T 1: 84,722,784 (GRCm39) I127N probably damaging Het
Upp2 T C 2: 58,661,562 (GRCm39) F142L possibly damaging Het
Usf3 C T 16: 44,039,995 (GRCm39) Q1492* probably null Het
Vcp T C 4: 42,990,840 (GRCm39) D205G probably damaging Het
Vmn1r180 G A 7: 23,652,394 (GRCm39) V186I possibly damaging Het
Washc2 T C 6: 116,206,267 (GRCm39) S496P probably damaging Het
Wee2 T C 6: 40,441,135 (GRCm39) I480T probably benign Het
Xylt2 T A 11: 94,559,571 (GRCm39) H357L probably damaging Het
Zbed4 T C 15: 88,665,056 (GRCm39) S375P probably damaging Het
Zfp442 A T 2: 150,251,100 (GRCm39) Y266* probably null Het
Zfp600 A G 4: 146,133,497 (GRCm39) T722A probably benign Het
Zfp976 T A 7: 42,265,424 (GRCm39) H55L possibly damaging Het
Other mutations in Cidea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Cidea APN 18 67,499,581 (GRCm39) missense probably damaging 1.00
R1586:Cidea UTSW 18 67,493,230 (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'- AGCCTTGTAGTATAACGCATCAGCC -3'
(R):5'- TTACACTGCATGGACCAGAGCAC -3'

Sequencing Primer
(F):5'- TAGTATAACGCATCAGCCTCCTG -3'
(R):5'- TTGGGCTTTCAGGCAGAAGAC -3'
Posted On 2014-05-14