Incidental Mutation 'R4355:Bmal1'
ID 327494
Institutional Source Beutler Lab
Gene Symbol Bmal1
Ensembl Gene ENSMUSG00000055116
Gene Name basic helix-loop-helix ARNT like 1
Synonyms MOP3, Arntl, Arnt3, bHLHe5
MMRRC Submission 041108-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.788) question?
Stock # R4355 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 112806672-112913333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112902613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 421 (I421V)
Ref Sequence ENSEMBL: ENSMUSP00000147823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047321] [ENSMUST00000210074] [ENSMUST00000210238] [ENSMUST00000211770]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047321
AA Change: I414V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: I414V

DomainStartEndE-ValueType
HLH 78 131 2.92e-16 SMART
PAS 146 213 4.41e-12 SMART
PAS 328 394 1.66e-7 SMART
PAC 401 444 2.92e-3 SMART
low complexity region 511 521 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210074
AA Change: I401V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000210238
AA Change: I414V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211547
Predicted Effect possibly damaging
Transcript: ENSMUST00000211770
AA Change: I421V

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with Clock. This heterodimer binds E-box enhancer elements upstream of Period (Per1, Per2, Per3) and Cryptochrome (Cry1, Cry2) genes and activates transcription of these genes. Per and Cry proteins heterodimerize and repress their own transcription by interacting in a feedback loop with Clock/Arntl complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T G 8: 44,023,222 (GRCm39) Q89H probably benign Het
Adgrb1 T C 15: 74,415,511 (GRCm39) F697S probably damaging Het
Adgrl2 A T 3: 148,544,788 (GRCm39) V769E probably damaging Het
Aldh7a1 A T 18: 56,681,566 (GRCm39) F173L probably null Het
Bcl3 G T 7: 19,545,505 (GRCm39) C208* probably null Het
Casz1 T C 4: 149,036,792 (GRCm39) S1685P unknown Het
Cep250 A G 2: 155,833,445 (GRCm39) E1789G probably damaging Het
Cep76 A T 18: 67,759,710 (GRCm39) D334E probably benign Het
Clca3b A T 3: 144,531,219 (GRCm39) probably null Het
Col9a3 A G 2: 180,248,271 (GRCm39) S208G probably benign Het
Ddx47 T C 6: 134,998,468 (GRCm39) V388A probably benign Het
Dync1h1 C T 12: 110,599,333 (GRCm39) A1896V possibly damaging Het
Eif2ak2 T A 17: 79,165,963 (GRCm39) R411S probably benign Het
F7 A G 8: 13,084,774 (GRCm39) T267A probably benign Het
Fras1 C A 5: 96,848,101 (GRCm39) D1770E probably benign Het
G2e3 T A 12: 51,412,120 (GRCm39) Y387N probably benign Het
Hspg2 C T 4: 137,256,729 (GRCm39) L1491F probably damaging Het
Ighv3-4 T C 12: 114,217,260 (GRCm39) I110M probably benign Het
Itgb5 T A 16: 33,665,367 (GRCm39) C28S probably damaging Het
Itprid2 A G 2: 79,472,342 (GRCm39) N132S probably benign Het
Kbtbd11 C A 8: 15,078,578 (GRCm39) N392K probably damaging Het
Kcnmb4 A G 10: 116,309,189 (GRCm39) S80P possibly damaging Het
Kif21a C T 15: 90,855,036 (GRCm39) C721Y probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klrc3 T C 6: 129,616,125 (GRCm39) M189V probably benign Het
Macf1 T A 4: 123,368,884 (GRCm39) E394V possibly damaging Het
Mrgprb4 C T 7: 47,848,449 (GRCm39) G160R possibly damaging Het
Myb A G 10: 21,028,516 (GRCm39) S116P probably damaging Het
Nf2 G A 11: 4,730,613 (GRCm39) Q513* probably null Het
Nmnat3 C T 9: 98,292,205 (GRCm39) T150M possibly damaging Het
Obi1 A G 14: 104,716,693 (GRCm39) V560A probably benign Het
Or11g27 T C 14: 50,771,216 (GRCm39) C116R possibly damaging Het
Or12k8 C A 2: 36,974,942 (GRCm39) V273F probably benign Het
Patj T G 4: 98,538,691 (GRCm39) C210W possibly damaging Het
Pde3b A G 7: 114,015,522 (GRCm39) H246R probably benign Het
Pnp2 A G 14: 51,197,082 (GRCm39) H56R probably benign Het
Prkg1 A G 19: 30,546,629 (GRCm39) probably benign Het
Rhbdf1 C T 11: 32,166,236 (GRCm39) S8N probably damaging Het
Rimbp3 A G 16: 17,027,556 (GRCm39) K327E possibly damaging Het
Rsph6a T A 7: 18,801,003 (GRCm39) probably null Het
Ryr2 T C 13: 11,664,698 (GRCm39) N3535S probably benign Het
Ston1 T G 17: 88,944,436 (GRCm39) V614G probably damaging Het
Svep1 T A 4: 58,138,695 (GRCm39) T466S possibly damaging Het
Tas2r109 A T 6: 132,957,144 (GRCm39) I262N probably benign Het
Tmtc1 T C 6: 148,256,596 (GRCm39) probably benign Het
Tshz2 G A 2: 169,726,858 (GRCm39) E16K possibly damaging Het
Ufsp2 T A 8: 46,438,502 (GRCm39) S193R possibly damaging Het
Ugt2b5 C A 5: 87,287,622 (GRCm39) E182* probably null Het
Usp43 A G 11: 67,782,290 (GRCm39) V376A probably benign Het
Utp15 A T 13: 98,395,755 (GRCm39) F76I possibly damaging Het
Wdr62 A C 7: 29,941,673 (GRCm39) L1141R probably damaging Het
Zfp418 T A 7: 7,175,161 (GRCm39) M18K probably benign Het
Other mutations in Bmal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Bmal1 APN 7 112,902,614 (GRCm39) missense probably damaging 0.99
diet UTSW 7 112,884,238 (GRCm39) missense probably damaging 1.00
R0308:Bmal1 UTSW 7 112,890,743 (GRCm39) missense probably damaging 1.00
R2039:Bmal1 UTSW 7 112,884,319 (GRCm39) missense probably damaging 1.00
R3548:Bmal1 UTSW 7 112,912,752 (GRCm39) missense probably damaging 1.00
R4718:Bmal1 UTSW 7 112,902,568 (GRCm39) missense probably damaging 0.98
R4725:Bmal1 UTSW 7 112,903,566 (GRCm39) missense possibly damaging 0.82
R4776:Bmal1 UTSW 7 112,884,244 (GRCm39) missense probably damaging 1.00
R4920:Bmal1 UTSW 7 112,884,321 (GRCm39) missense probably damaging 1.00
R4960:Bmal1 UTSW 7 112,898,642 (GRCm39) critical splice donor site probably null
R4985:Bmal1 UTSW 7 112,884,280 (GRCm39) missense probably damaging 1.00
R5640:Bmal1 UTSW 7 112,907,888 (GRCm39) missense probably damaging 1.00
R5739:Bmal1 UTSW 7 112,884,238 (GRCm39) missense probably damaging 1.00
R6004:Bmal1 UTSW 7 112,879,934 (GRCm39) missense probably damaging 0.97
R7201:Bmal1 UTSW 7 112,884,349 (GRCm39) missense probably damaging 1.00
R7214:Bmal1 UTSW 7 112,898,610 (GRCm39) missense probably benign 0.44
R7218:Bmal1 UTSW 7 112,886,390 (GRCm39) missense probably damaging 0.96
R7378:Bmal1 UTSW 7 112,898,415 (GRCm39) missense probably benign 0.44
R7491:Bmal1 UTSW 7 112,898,631 (GRCm39) missense probably benign 0.43
R7908:Bmal1 UTSW 7 112,912,680 (GRCm39) missense probably benign
R7947:Bmal1 UTSW 7 112,886,353 (GRCm39) missense probably damaging 1.00
R8260:Bmal1 UTSW 7 112,884,258 (GRCm39) missense probably damaging 1.00
R8331:Bmal1 UTSW 7 112,912,703 (GRCm39) missense probably benign 0.01
R8848:Bmal1 UTSW 7 112,905,327 (GRCm39) missense possibly damaging 0.62
R9347:Bmal1 UTSW 7 112,898,487 (GRCm39) missense possibly damaging 0.64
R9411:Bmal1 UTSW 7 112,907,837 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTAAGGGTGATGCTTGCAAGG -3'
(R):5'- CCGTCAGGAGATACTAGTAAGGTG -3'

Sequencing Primer
(F):5'- GGAGCTGAGAACCTTAGGATCC -3'
(R):5'- AATGTGGATACTGCCTATTGCC -3'
Posted On 2015-07-07