Incidental Mutation 'R4035:Bhlhe41'
ID 313669
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 041613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R4035 (G1)
Quality Score 121
Status Validated
Chromosome 6
Chromosomal Location 145803969-145811146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145808754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 353 (S353P)
Ref Sequence ENSEMBL: ENSMUSP00000032386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032386] [ENSMUST00000111703]
AlphaFold Q99PV5
Predicted Effect probably benign
Transcript: ENSMUST00000032386
AA Change: S353P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: S353P

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 0.0840 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,879 (GRCm39) F34L probably benign Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ano5 A G 7: 51,216,233 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cep350 T C 1: 155,835,541 (GRCm39) T52A probably benign Het
Coro2b A G 9: 62,333,071 (GRCm39) probably benign Het
Ctcf A T 8: 106,390,789 (GRCm39) E132V possibly damaging Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Cxcl2 A T 5: 91,052,272 (GRCm39) Q87L possibly damaging Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Etfdh C T 3: 79,521,018 (GRCm39) V294I probably benign Het
Fnip2 C T 3: 79,386,808 (GRCm39) V973I probably benign Het
Fyco1 T C 9: 123,630,348 (GRCm39) T1286A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gsdme A T 6: 50,206,428 (GRCm39) N138K possibly damaging Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Henmt1 T C 3: 108,866,001 (GRCm39) V199A probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Krba1 A G 6: 48,388,614 (GRCm39) N538D probably damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ndst4 C T 3: 125,232,385 (GRCm39) T318M probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 GCA GCACCA 19: 46,069,797 (GRCm39) probably benign Het
Or6d12 A G 6: 116,493,590 (GRCm39) N284S possibly damaging Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Ppfibp1 A G 6: 146,898,334 (GRCm39) K97E probably damaging Het
Pramel26 T A 4: 143,537,026 (GRCm39) D435V probably benign Het
Prpsap1 A T 11: 116,363,834 (GRCm39) M263K probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rttn T C 18: 89,013,777 (GRCm39) V482A probably benign Het
Samsn1 A G 16: 75,706,073 (GRCm39) M1T probably null Het
Scel A G 14: 103,767,440 (GRCm39) N33S probably damaging Het
Sema4g A T 19: 44,989,853 (GRCm39) Y644F probably damaging Het
Slc39a10 G A 1: 46,851,234 (GRCm39) T752M probably damaging Het
Snx27 T C 3: 94,431,551 (GRCm39) D281G probably damaging Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,199 (GRCm39) probably null Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ttn T G 2: 76,740,165 (GRCm39) Q3458P probably benign Het
Ube2z A G 11: 95,951,893 (GRCm39) F152L probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp267 T G 3: 36,218,989 (GRCm39) H337Q 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
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'- AAGGAATGCTGGGTTCAGGG -3'
(R):5'- CCCAAGAGGCCGAAGCTG -3'

Sequencing Primer
(F):5'- TCAGGGGGCGTCCTTGG -3'
(R):5'- TGCTCGGCTCGCTCGTG -3'
Posted On 2015-04-30