Incidental Mutation 'IGL02303:Bhlhe41'
ID 287468
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 # IGL02303
Quality Score
Status
Chromosome 6
Chromosomal Location 145803969-145811146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145809882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 107 (H107Q)
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: H107Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: H107Q

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: H107Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107332
Gene: ENSMUSG00000030256
AA Change: H107Q

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,045,376 (GRCm39) F319S probably damaging Het
Ap3b1 A G 13: 94,664,827 (GRCm39) D922G unknown Het
Csmd2 C A 4: 128,262,801 (GRCm39) H662Q probably benign Het
Dnah8 T C 17: 30,932,021 (GRCm39) V1463A probably benign Het
Ebf3 A T 7: 136,911,094 (GRCm39) V140E probably benign Het
Havcr2 T A 11: 46,370,108 (GRCm39) probably benign Het
Hexb G A 13: 97,313,401 (GRCm39) A485V probably damaging Het
Igkv5-37 T A 6: 69,940,473 (GRCm39) Q57L probably damaging Het
Ipo5 T A 14: 121,154,795 (GRCm39) S40T probably benign Het
Kcnj8 A G 6: 142,515,837 (GRCm39) M90T probably benign Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Kmt2c A C 5: 25,515,155 (GRCm39) L2896R probably damaging Het
Ldlrap1 A T 4: 134,484,706 (GRCm39) I96N probably damaging Het
Leo1 A G 9: 75,353,281 (GRCm39) probably benign Het
Mbnl2 T C 14: 120,642,059 (GRCm39) M341T probably benign Het
Nfatc2 G A 2: 168,348,821 (GRCm39) R669* probably null Het
Nhlrc2 T A 19: 56,563,280 (GRCm39) V293E probably damaging Het
Or1e17 T C 11: 73,831,276 (GRCm39) F68S possibly damaging Het
Or2at1 A G 7: 99,417,179 (GRCm39) D270G possibly damaging Het
Or51ag1 A T 7: 103,155,295 (GRCm39) M286K probably benign Het
Or51ai2 A G 7: 103,586,770 (GRCm39) Q61R possibly damaging Het
Otoa T A 7: 120,732,147 (GRCm39) probably null Het
Pcnt T C 10: 76,278,393 (GRCm39) probably benign Het
Recql4 G T 15: 76,592,771 (GRCm39) Q307K possibly damaging Het
Sp140 T A 1: 85,570,730 (GRCm39) Y453* probably null Het
Sspo G A 6: 48,461,639 (GRCm39) V3600I possibly damaging Het
Sybu T C 15: 44,536,619 (GRCm39) E441G probably benign Het
Syne3 A T 12: 104,929,553 (GRCm39) H222Q probably damaging Het
Tef T C 15: 81,705,496 (GRCm39) V173A probably benign Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tmod4 C A 3: 95,032,953 (GRCm39) Q30K probably benign Het
Tpgs1 T C 10: 79,511,322 (GRCm39) Y155H probably damaging Het
Trib3 G A 2: 152,185,070 (GRCm39) P60S probably benign Het
Ttn T A 2: 76,560,550 (GRCm39) T20957S probably damaging Het
Vars1 T C 17: 35,234,460 (GRCm39) probably benign Het
Vps13c T C 9: 67,852,763 (GRCm39) probably benign Het
Zc3h4 T C 7: 16,168,002 (GRCm39) S704P unknown Het
Zfp644 G A 5: 106,785,180 (GRCm39) R456W probably damaging Het
Other mutations in Bhlhe41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Bhlhe41 APN 6 145,808,763 (GRCm39) missense possibly damaging 0.93
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
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 2015-04-16