Incidental Mutation 'R3620:Bhlhe41'
ID 268591
Institutional Source Beutler Lab
Gene Symbol Bhlhe41
Ensembl Gene ENSMUSG00000030256
Gene Name basic helix-loop-helix family, member e41
Synonyms 6430520M22Rik, DEC2, Bhlhb3, Sharp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R3620 (G1)
Quality Score 162
Status Validated
Chromosome 6
Chromosomal Location 145803969-145811146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 145808733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 360 (G360C)
Ref Sequence ENSEMBL: ENSMUSP00000032386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032386] [ENSMUST00000111703]
AlphaFold Q99PV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032386
AA Change: G360C

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: G360C

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 probably benign
Transcript: ENSMUST00000111703
SMART Domains Protein: ENSMUSP00000107332
Gene: ENSMUSG00000030256

DomainStartEndE-ValueType
HLH 50 105 4.4e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203949
Meta Mutation Damage Score 0.0706 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,226,864 (GRCm39) M473T probably benign Het
Asxl1 C A 2: 153,199,075 (GRCm39) R76S probably damaging Het
Ccdc88a T C 11: 29,380,227 (GRCm39) I201T probably benign Het
Ccng1 T C 11: 40,642,992 (GRCm39) T152A probably benign Het
Cep192 T C 18: 67,962,928 (GRCm39) V648A probably benign Het
Cldn16 T A 16: 26,296,302 (GRCm39) F93I possibly damaging Het
Csmd1 T C 8: 16,042,684 (GRCm39) S2350G probably benign Het
Enpp6 T C 8: 47,518,540 (GRCm39) W223R probably benign Het
Fah T C 7: 84,238,159 (GRCm39) probably null Het
Fat2 A T 11: 55,147,521 (GRCm39) V3907D probably damaging Het
Fsip2 C A 2: 82,810,602 (GRCm39) T2307K probably benign Het
Gcg T C 2: 62,307,279 (GRCm39) E94G probably damaging Het
Gramd1b C A 9: 40,366,842 (GRCm39) R42L probably benign Het
H2bc9 C A 13: 23,727,324 (GRCm39) V67L probably benign Het
Hdc T A 2: 126,458,187 (GRCm39) Y45F possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf10 T G 3: 59,243,752 (GRCm39) D194A probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lrpprc A T 17: 85,077,452 (GRCm39) C412S probably benign Het
Mga T A 2: 119,747,149 (GRCm39) D433E probably damaging Het
Myo15a A T 11: 60,369,468 (GRCm39) S743C possibly damaging Het
Myo15b T G 11: 115,762,013 (GRCm39) L1176R possibly damaging Het
Ndor1 T C 2: 25,138,047 (GRCm39) Q526R probably damaging Het
Nipbl A G 15: 8,362,508 (GRCm39) I1429T probably damaging Het
Or1d2 T A 11: 74,256,050 (GRCm39) L185Q probably damaging Het
Or4c126 T C 2: 89,824,196 (GRCm39) I153T probably damaging Het
Or4k38 T A 2: 111,165,689 (GRCm39) I245L probably benign Het
Otogl T C 10: 107,710,232 (GRCm39) D619G probably damaging Het
Pa2g4 C G 10: 128,399,464 (GRCm39) E67Q probably damaging Het
Pnpla1 C T 17: 29,096,362 (GRCm39) A147V probably damaging Het
Prdm13 A G 4: 21,683,532 (GRCm39) Y143H unknown Het
Rad23a A G 8: 85,567,193 (GRCm39) M1T probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Slc10a2 A T 8: 5,154,909 (GRCm39) I92N probably damaging Het
Slc24a4 T C 12: 102,185,222 (GRCm39) F111L probably damaging Het
Sox11 T C 12: 27,391,735 (GRCm39) T225A probably benign Het
Thbs1 T C 2: 117,951,640 (GRCm39) V820A probably benign Het
Unc45a G T 7: 79,983,799 (GRCm39) N332K possibly damaging Het
Vmn1r159 A C 7: 22,542,258 (GRCm39) I258S possibly damaging Het
Wdr31 A T 4: 62,375,701 (GRCm39) F251L possibly damaging Het
Wdr43 C T 17: 71,957,601 (GRCm39) T530M probably benign Het
Zfp445 C T 9: 122,681,833 (GRCm39) A703T probably benign 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
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
R8801:Bhlhe41 UTSW 6 145,810,339 (GRCm39) missense probably damaging 1.00
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'- AGAGGACGTTTGAACTTGGAA -3'
(R):5'- CGCCTACGTACAGCCCTG -3'

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