Incidental Mutation 'R3548:Bmal1'
ID 268308
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 040667-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.788) question?
Stock # R3548 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 112806672-112913333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112912752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 610 (I610F)
Ref Sequence ENSEMBL: ENSMUSP00000147823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047091] [ENSMUST00000047321] [ENSMUST00000117577] [ENSMUST00000119278] [ENSMUST00000135510] [ENSMUST00000210074] [ENSMUST00000210238] [ENSMUST00000211770]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047091
SMART Domains Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187

DomainStartEndE-ValueType
low complexity region 60 75 N/A INTRINSIC
low complexity region 106 147 N/A INTRINSIC
BTB 167 272 1.58e-4 SMART
low complexity region 311 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047321
AA Change: I603F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: I603F

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: ENSMUST00000117577
SMART Domains Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187

DomainStartEndE-ValueType
low complexity region 68 83 N/A INTRINSIC
low complexity region 114 155 N/A INTRINSIC
BTB 175 280 1.58e-4 SMART
low complexity region 319 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119278
SMART Domains Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
low complexity region 58 99 N/A INTRINSIC
BTB 119 224 1.58e-4 SMART
low complexity region 263 274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135510
SMART Domains Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187

DomainStartEndE-ValueType
low complexity region 60 75 N/A INTRINSIC
low complexity region 106 147 N/A INTRINSIC
SCOP:d1t1da_ 167 198 3e-6 SMART
Blast:BTB 167 200 1e-15 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000210074
AA Change: I590F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000210238
AA Change: I603F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably damaging
Transcript: ENSMUST00000211770
AA Change: I610F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211547
Meta Mutation Damage Score 0.0984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.8%
Validation Efficiency 97% (35/36)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph C A 13: 19,287,129 (GRCm39) H279Q probably damaging Het
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Celf3 T G 3: 94,395,845 (GRCm39) C304G probably damaging Het
Chrnb2 T A 3: 89,668,898 (GRCm39) Y139F probably benign Het
Clcc1 T A 3: 108,575,429 (GRCm39) C169S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Cr2 A T 1: 194,838,196 (GRCm39) C1089* probably null Het
Dnah10 A T 5: 124,824,694 (GRCm39) I617F possibly damaging Het
F12 T C 13: 55,565,950 (GRCm39) N132D probably benign Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Frs3 T G 17: 48,014,561 (GRCm39) I418S probably damaging Het
Gpr149 A T 3: 62,502,549 (GRCm39) C436S probably benign Het
Igsf10 C A 3: 59,243,935 (GRCm39) R133L probably damaging Het
Il17rb A G 14: 29,730,729 (GRCm39) probably null Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Khdc4 A G 3: 88,600,443 (GRCm39) probably benign Het
Mtus2 C A 5: 148,232,316 (GRCm39) H120Q probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nes C A 3: 87,880,429 (GRCm39) probably benign Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9c A T 7: 26,070,876 (GRCm39) C790S probably damaging Het
Or5b12 A T 19: 12,897,031 (GRCm39) I214N probably benign Het
Phf24 T G 4: 42,937,879 (GRCm39) Y85* probably null Het
Pycr1 T C 11: 120,533,072 (GRCm39) S33G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sirt2 A G 7: 28,467,096 (GRCm39) E19G probably damaging Het
Sort1 T C 3: 108,245,225 (GRCm39) V359A possibly damaging Het
Tnni1 A G 1: 135,732,791 (GRCm39) probably null Het
Ube2q1 T A 3: 89,688,383 (GRCm39) M183K probably damaging Het
Vmn1r50 T A 6: 90,084,476 (GRCm39) F74I probably damaging 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
R4355:Bmal1 UTSW 7 112,902,613 (GRCm39) missense possibly damaging 0.46
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'- CCTTGCTCTTGTTAAATAAACGTCC -3'
(R):5'- ATCAATGGCTCTGAGGTGGC -3'

Sequencing Primer
(F):5'- AATAAACGTCCTTATTGGTGTGTTG -3'
(R):5'- GGAGTCAGTACATAAAAGCTGTTCTC -3'
Posted On 2015-02-19