Incidental Mutation 'R4650:Cideb'
ID 351239
Institutional Source Beutler Lab
Gene Symbol Cideb
Ensembl Gene ENSMUSG00000022219
Gene Name cell death-inducing DNA fragmentation factor, alpha subunit-like effector B
Synonyms DFFA-like B, CIDE-B, 1110030C18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4650 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55991509-55995881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55992688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 76 (V76A)
Ref Sequence ENSEMBL: ENSMUSP00000001497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001497] [ENSMUST00000019441]
AlphaFold O70303
Predicted Effect possibly damaging
Transcript: ENSMUST00000001497
AA Change: V76A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219
AA Change: V76A

DomainStartEndE-ValueType
CAD 36 108 2.16e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000019441
SMART Domains Protein: ENSMUSP00000019441
Gene: ENSMUSG00000019297

DomainStartEndE-ValueType
low complexity region 11 55 N/A INTRINSIC
Blast:Pumilio 92 127 3e-15 BLAST
Pumilio 189 220 2.74e2 SMART
Blast:Pumilio 263 298 3e-14 BLAST
Pumilio 314 349 4.38e1 SMART
Pumilio 351 387 1.03e1 SMART
Pumilio 509 546 1.72e1 SMART
Pumilio 547 582 9.17e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227300
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display a lean phenotype, increased energy expenditure and improved insulin sensitivity and are resistant to high-fat diet-induced obesity, hyperlipidemia, or liver steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T A 16: 88,860,603 (GRCm39) Y77F unknown Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Aldoa A G 7: 126,396,879 (GRCm39) S71P possibly damaging Het
Arhgef12 A G 9: 42,893,266 (GRCm39) V979A probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Brd8 T C 18: 34,739,752 (GRCm39) T674A probably benign Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Capza1 A G 3: 104,752,296 (GRCm39) V14A probably damaging Het
Cdk2 A T 10: 128,538,364 (GRCm39) I135N probably damaging Het
Celf4 A T 18: 25,629,302 (GRCm39) M407K possibly damaging Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Dbpht2 C G 12: 74,345,933 (GRCm39) noncoding transcript Het
Dis3l2 A G 1: 86,918,043 (GRCm39) D550G possibly damaging Het
Dnah1 A T 14: 31,006,844 (GRCm39) probably null Het
Edc4 T A 8: 106,619,307 (GRCm39) L1293* probably null Het
Elp5 A G 11: 69,860,398 (GRCm39) V203A possibly damaging Het
Fndc7 T C 3: 108,770,135 (GRCm39) N597S probably benign Het
Gjb3 T C 4: 127,220,484 (GRCm39) Y16C probably damaging Het
Gm5773 A G 3: 93,680,712 (GRCm39) D128G probably benign Het
Gnb1l T C 16: 18,363,025 (GRCm39) probably null Het
Gon4l G A 3: 88,770,859 (GRCm39) D514N possibly damaging Het
Grhl3 T A 4: 135,276,547 (GRCm39) probably null Het
Hoxc10 T C 15: 102,875,698 (GRCm39) S136P probably benign Het
Ift22 G A 5: 136,940,655 (GRCm39) V107I probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lgi4 G A 7: 30,768,554 (GRCm39) A518T probably benign Het
Lhx2 T A 2: 38,250,052 (GRCm39) N290K probably damaging Het
Ltbp4 A T 7: 27,013,734 (GRCm39) C1092S probably damaging Het
Macf1 T C 4: 123,367,412 (GRCm39) I2450V probably benign Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Myb A G 10: 21,028,840 (GRCm39) L86P probably damaging Het
Myh3 C T 11: 66,977,270 (GRCm39) T333M probably damaging Het
Nek11 T C 9: 105,225,279 (GRCm39) N78D possibly damaging Het
Nmi C A 2: 51,838,646 (GRCm39) C296F probably benign Het
Nphs1 A T 7: 30,181,895 (GRCm39) T1163S probably benign Het
Npy4r C T 14: 33,868,181 (GRCm39) G369D possibly damaging Het
Ola1 T C 2: 72,972,309 (GRCm39) T221A probably damaging Het
Or51d1 A G 7: 102,348,027 (GRCm39) D194G probably damaging Het
Or8c11 T C 9: 38,289,699 (GRCm39) F168S probably damaging Het
Pfkfb2 A T 1: 130,633,200 (GRCm39) N184K possibly damaging Het
Plce1 T C 19: 38,513,088 (GRCm39) V129A probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Pth A T 7: 112,985,026 (GRCm39) *116K probably null Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rwdd3 A G 3: 120,952,826 (GRCm39) F55S probably damaging Het
Serpinb9d A T 13: 33,386,836 (GRCm39) L301F probably benign Het
Slc35e4 A G 11: 3,862,677 (GRCm39) C171R probably damaging Het
Slco1a4 A T 6: 141,758,424 (GRCm39) I529K possibly damaging Het
Styk1 A T 6: 131,277,532 (GRCm39) W370R probably damaging Het
Tmprss11e C A 5: 86,875,212 (GRCm39) W18L probably damaging Het
Trpv1 A C 11: 73,129,089 (GRCm39) E2A probably benign Het
Unc13b T A 4: 43,261,035 (GRCm39) I1799N probably damaging Het
Vmn1r213 G A 13: 23,196,422 (GRCm39) C335Y possibly damaging Het
Vps37c C T 19: 10,690,273 (GRCm39) S245L probably benign Het
Wrn T C 8: 33,745,537 (GRCm39) T1191A probably benign Het
Zfp13 A G 17: 23,799,112 (GRCm39) L153P probably damaging Het
Zfp472 T G 17: 33,196,631 (GRCm39) S235R possibly damaging Het
Other mutations in Cideb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Cideb APN 14 55,992,017 (GRCm39) missense possibly damaging 0.78
Oxymoron UTSW 14 55,995,409 (GRCm39) missense probably benign 0.43
R1526:Cideb UTSW 14 55,992,619 (GRCm39) nonsense probably null
R1920:Cideb UTSW 14 55,992,700 (GRCm39) missense probably benign
R2073:Cideb UTSW 14 55,992,617 (GRCm39) missense possibly damaging 0.88
R4584:Cideb UTSW 14 55,995,727 (GRCm39) missense probably benign
R5106:Cideb UTSW 14 55,991,982 (GRCm39) missense probably benign
R5415:Cideb UTSW 14 55,995,312 (GRCm39) missense probably damaging 1.00
R5420:Cideb UTSW 14 55,995,748 (GRCm39) start codon destroyed probably null 1.00
R6471:Cideb UTSW 14 55,995,409 (GRCm39) missense probably benign 0.43
R7234:Cideb UTSW 14 55,992,017 (GRCm39) missense probably benign 0.03
R7455:Cideb UTSW 14 55,992,292 (GRCm39) missense probably damaging 1.00
R7595:Cideb UTSW 14 55,992,261 (GRCm39) missense probably damaging 1.00
R7806:Cideb UTSW 14 55,992,625 (GRCm39) missense probably damaging 1.00
R7993:Cideb UTSW 14 55,995,899 (GRCm39) unclassified probably benign
R8354:Cideb UTSW 14 55,992,598 (GRCm39) missense possibly damaging 0.91
R8454:Cideb UTSW 14 55,992,598 (GRCm39) missense possibly damaging 0.91
X0064:Cideb UTSW 14 55,995,433 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGTTGATGTCCTTCACAGCTCC -3'
(R):5'- TGCAACTTTTAGGAAGGATGAGATG -3'

Sequencing Primer
(F):5'- ACAGGTCAGTGGTAGGCC -3'
(R):5'- GAAGTGTTCATGTCTACAATCCCAGG -3'
Posted On 2015-10-08