Incidental Mutation 'R8801:Bhlhe41'
ID 671496
Institutional Source Beutler Lab
Gene Symbol Bhlhe41
Ensembl Gene ENSMUSG00000030256
Gene Name basic helix-loop-helix family, member e41
Synonyms 6430520M22Rik, DEC2, Bhlhb3, Sharp1
MMRRC Submission 068611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R8801 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 145803969-145811146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 145810339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 66 (Q66R)
Ref Sequence ENSEMBL: ENSMUSP00000032386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032386] [ENSMUST00000111703]
AlphaFold Q99PV5
Predicted Effect probably damaging
Transcript: ENSMUST00000032386
AA Change: Q66R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: Q66R

DomainStartEndE-ValueType
HLH 50 105 4.4e-11 SMART
ORANGE 129 175 3.26e-15 SMART
low complexity region 179 204 N/A INTRINSIC
low complexity region 258 294 N/A INTRINSIC
low complexity region 317 331 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111703
AA Change: Q66R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107332
Gene: ENSMUSG00000030256
AA Change: Q66R

DomainStartEndE-ValueType
HLH 50 105 4.4e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with Arntl or compete for E-box binding sites in the promoter of Per1 and repress Clock/Arntl's transactivation of Per1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit delayed circadian phase. Mice homozygous for another knock-out allele exhibit impaired TH2 differentiation in response to numerous stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,808,972 (GRCm39) V100I unknown Het
Acta2 G T 19: 34,229,207 (GRCm39) Q61K probably damaging Het
Adamts20 T G 15: 94,258,490 (GRCm39) D357A probably damaging Het
Adcy4 A G 14: 56,009,452 (GRCm39) F798S probably benign Het
Aldh16a1 A G 7: 44,791,438 (GRCm39) V779A probably benign Het
Arid1b C A 17: 5,387,103 (GRCm39) P1466T probably benign Het
B3gnt2 T C 11: 22,787,002 (GRCm39) E62G probably damaging Het
Bcan A C 3: 87,904,582 (GRCm39) V58G probably damaging Het
Cdh6 G A 15: 13,044,847 (GRCm39) T425I probably damaging Het
Ciao2b C T 8: 105,367,599 (GRCm39) probably null Het
Csmd2 A G 4: 128,457,195 (GRCm39) Y3554C probably damaging Het
Csmd3 T A 15: 48,321,024 (GRCm39) H262L possibly damaging Het
Dgcr8 A G 16: 18,098,500 (GRCm39) F334S probably damaging Het
Dipk1c T C 18: 84,757,617 (GRCm39) S234P probably benign Het
Dsg1c A G 18: 20,410,022 (GRCm39) T497A probably benign Het
Dsp T C 13: 38,381,502 (GRCm39) V2749A possibly damaging Het
Esr1 A G 10: 4,916,270 (GRCm39) N486D unknown Het
Fbn2 T C 18: 58,287,021 (GRCm39) T213A probably damaging Het
Fbxo41 T A 6: 85,461,663 (GRCm39) E15V probably damaging Het
Fga G A 3: 82,938,188 (GRCm39) A188T possibly damaging Het
Frk C T 10: 34,423,402 (GRCm39) S160F possibly damaging Het
Gm4559 CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT 7: 141,827,553 (GRCm39) probably benign Het
Gss T C 2: 155,406,686 (GRCm39) Y432C probably damaging Het
Ifi27l2b A T 12: 103,423,298 (GRCm39) F5I unknown Het
Insm1 T A 2: 146,065,346 (GRCm39) Y387* probably null Het
Klf12 T G 14: 100,260,172 (GRCm39) I186L probably benign Het
Klrg1 C T 6: 122,248,342 (GRCm39) V186I probably benign Het
Loxl3 G T 6: 83,025,629 (GRCm39) W329L probably damaging Het
Lyst T A 13: 13,835,595 (GRCm39) V1759E probably benign Het
Mlph G A 1: 90,870,609 (GRCm39) V507I probably benign Het
Mroh8 G A 2: 157,075,086 (GRCm39) T470M probably damaging Het
Nampt T C 12: 32,888,373 (GRCm39) Y175H possibly damaging Het
Nedd4l A G 18: 65,288,346 (GRCm39) E2G probably damaging Het
Nrxn1 A G 17: 91,009,393 (GRCm39) probably benign Het
Optc A G 1: 133,832,819 (GRCm39) S94P possibly damaging Het
Or8k33 A G 2: 86,383,727 (GRCm39) V247A probably benign Het
Oxtr T A 6: 112,466,873 (GRCm39) probably benign Het
Phip T C 9: 82,758,305 (GRCm39) R1463G probably benign Het
Pramel30 A G 4: 144,059,438 (GRCm39) Y383C probably benign Het
Psmc3ip T C 11: 100,984,617 (GRCm39) N76S probably benign Het
Reln T A 5: 22,155,854 (GRCm39) M2213L possibly damaging Het
Rock1 T C 18: 10,070,260 (GRCm39) D1271G probably damaging Het
Rprd1a T G 18: 24,641,280 (GRCm39) E112A probably benign Het
Sacm1l A T 9: 123,411,384 (GRCm39) D391V probably damaging Het
Serpina3f A T 12: 104,185,737 (GRCm39) H314L probably benign Het
Setd5 T A 6: 113,127,853 (GRCm39) S1269T possibly damaging Het
Syne1 T C 10: 5,308,335 (GRCm39) E740G probably damaging Het
Tcaf1 T A 6: 42,663,742 (GRCm39) Q46L probably damaging Het
Tcam1 G A 11: 106,173,618 (GRCm39) A21T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Ttll11 A T 2: 35,792,985 (GRCm39) L286H probably damaging Het
Usp1 A G 4: 98,822,848 (GRCm39) T721A probably benign Het
Vps41 T C 13: 18,998,403 (GRCm39) S241P possibly damaging Het
Other mutations in Bhlhe41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Bhlhe41 APN 6 145,808,763 (GRCm39) missense possibly damaging 0.93
IGL02303:Bhlhe41 APN 6 145,809,882 (GRCm39) missense probably damaging 1.00
IGL02885:Bhlhe41 APN 6 145,810,989 (GRCm39) missense probably damaging 1.00
IGL03354:Bhlhe41 APN 6 145,809,929 (GRCm39) missense probably damaging 1.00
R1124:Bhlhe41 UTSW 6 145,809,456 (GRCm39) missense probably damaging 1.00
R3620:Bhlhe41 UTSW 6 145,808,733 (GRCm39) missense possibly damaging 0.75
R4035:Bhlhe41 UTSW 6 145,808,754 (GRCm39) missense probably benign 0.10
R5296:Bhlhe41 UTSW 6 145,808,694 (GRCm39) unclassified probably benign
R8355:Bhlhe41 UTSW 6 145,811,028 (GRCm39) splice site probably null
R8977:Bhlhe41 UTSW 6 145,809,096 (GRCm39) missense possibly damaging 0.92
R9476:Bhlhe41 UTSW 6 145,808,948 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- ATGATCTCTGCCATTAGCCCG -3'
(R):5'- GAGAGTTCTGGGCATTAGTTCATTAC -3'

Sequencing Primer
(F):5'- CCTGTTCTGAGTCTCTGGGAAAC -3'
(R):5'- CTGGGCATTAGTTCATTACATAGTG -3'
Posted On 2021-04-30