Incidental Mutation 'IGL01717:Bhlhe41'
ID104979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhlhe41
Ensembl Gene ENSMUSG00000030256
Gene Namebasic helix-loop-helix family, member e41
Synonyms6430520M22Rik, Bhlhb3, DEC2, Sharp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL01717
Quality Score
Status
Chromosome6
Chromosomal Location145858243-145865558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 145863037 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 350 (S350P)
Ref Sequence ENSEMBL: ENSMUSP00000032386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032386] [ENSMUST00000111703]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032386
AA Change: S350P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: S350P

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Bhlhe41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Bhlhe41 APN 6 145864156 missense probably damaging 1.00
IGL02885:Bhlhe41 APN 6 145865263 missense probably damaging 1.00
IGL03354:Bhlhe41 APN 6 145864203 missense probably damaging 1.00
R1124:Bhlhe41 UTSW 6 145863730 missense probably damaging 1.00
R3620:Bhlhe41 UTSW 6 145863007 missense possibly damaging 0.75
R4035:Bhlhe41 UTSW 6 145863028 missense probably benign 0.10
R5296:Bhlhe41 UTSW 6 145862968 unclassified probably benign
R8355:Bhlhe41 UTSW 6 145865302 splice site probably null
Posted On2014-01-21