Incidental Mutation 'IGL02885:Bhlhe41'
ID 362978
Institutional Source Australian Phenomics Network (link to record)
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: 0.099) question?
Stock # IGL02885
Quality Score
Status
Chromosome 6
Chromosomal Location 145803969-145811146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145810989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 2 (D2V)
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: D2V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: D2V

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: D2V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107332
Gene: ENSMUSG00000030256
AA Change: D2V

DomainStartEndE-ValueType
HLH 50 105 4.4e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203949
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,152 (GRCm39) N683S probably benign Het
Ahi1 T A 10: 20,931,012 (GRCm39) F46I possibly damaging Het
Als2 C T 1: 59,206,650 (GRCm39) V1598I probably benign Het
Arid1b A T 17: 5,392,428 (GRCm39) D1986V probably damaging Het
Borcs6 A G 11: 68,951,072 (GRCm39) D150G possibly damaging Het
Ccdc88a G T 11: 29,398,050 (GRCm39) R261L probably damaging Het
Ccne2 T A 4: 11,198,723 (GRCm39) probably benign Het
Cenpk A G 13: 104,385,903 (GRCm39) D266G probably damaging Het
Ces2b T C 8: 105,561,563 (GRCm39) V219A probably damaging Het
Cpa1 A G 6: 30,645,169 (GRCm39) R382G probably damaging Het
Cplx4 G T 18: 66,089,984 (GRCm39) T145N probably damaging Het
Cyp19a1 T C 9: 54,079,102 (GRCm39) I269V probably benign Het
Dennd3 A G 15: 73,440,545 (GRCm39) Y1192C probably benign Het
Dpp6 T C 5: 27,923,471 (GRCm39) Y694H probably damaging Het
Eea1 C A 10: 95,877,346 (GRCm39) N1353K probably benign Het
Fam111a T A 19: 12,561,488 (GRCm39) probably null Het
Fat1 T C 8: 45,442,204 (GRCm39) S1169P probably benign Het
Frk G T 10: 34,360,067 (GRCm39) A23S probably benign Het
Fyb2 T C 4: 104,861,118 (GRCm39) V594A probably damaging Het
Gtpbp3 C A 8: 71,942,064 (GRCm39) probably benign Het
Hoxa5 G T 6: 52,179,688 (GRCm39) A229D probably damaging Het
Ift25 G A 4: 107,130,866 (GRCm39) C52Y possibly damaging Het
Igf2r A T 17: 12,913,007 (GRCm39) F1780L possibly damaging Het
Jade2 A T 11: 51,722,123 (GRCm39) D143E probably damaging Het
Kdm1a T C 4: 136,279,846 (GRCm39) I719V probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lmx1b G T 2: 33,457,216 (GRCm39) Q206K probably benign Het
Lrrtm4 G A 6: 79,998,786 (GRCm39) G66D probably damaging Het
Myg1 G T 15: 102,240,594 (GRCm39) G90C probably damaging Het
Nbea C T 3: 55,539,407 (GRCm39) V2785I probably benign Het
Ncr1 C A 7: 4,341,225 (GRCm39) P35Q probably damaging Het
Nos1 T A 5: 118,033,855 (GRCm39) C326S probably damaging Het
Or12j2 T C 7: 139,916,072 (GRCm39) F99S possibly damaging Het
Or3a1 G T 11: 74,225,519 (GRCm39) H179Q possibly damaging Het
Or52r1 A T 7: 102,537,243 (GRCm39) V39E possibly damaging Het
Pde4d A G 13: 110,084,795 (GRCm39) Y520C probably damaging Het
Ppm1d A G 11: 85,217,770 (GRCm39) M178V possibly damaging Het
Samd3 G A 10: 26,147,762 (GRCm39) R479K probably benign Het
Semp2l2b T A 10: 21,943,057 (GRCm39) I308F possibly damaging Het
Serpinb6a A G 13: 34,102,782 (GRCm39) V226A probably benign Het
Slc26a4 T C 12: 31,575,475 (GRCm39) E737G probably benign Het
Slc34a3 A G 2: 25,121,069 (GRCm39) C340R probably damaging Het
Spata31d1b C A 13: 59,866,941 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,013 (GRCm39) V173A probably benign Het
Vmn2r66 A T 7: 84,644,723 (GRCm39) D562E probably benign Het
Zfp395 C T 14: 65,633,344 (GRCm39) P451L 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
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
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
Posted On 2015-12-18