Incidental Mutation 'IGL02950:Bhlhe40'
ID 364927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhlhe40
Ensembl Gene ENSMUSG00000030103
Gene Name basic helix-loop-helix family, member e40
Synonyms C130042M06Rik, Clast5, DEC1, CR8, Stra14, cytokine response gene 8, Sharp2, eip1 (E47 interaction protein 1), Bhlhb2, Stra13
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02950
Quality Score
Status
Chromosome 6
Chromosomal Location 108637590-108643886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108641503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 149 (C149F)
Ref Sequence ENSEMBL: ENSMUSP00000032194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032194] [ENSMUST00000163617]
AlphaFold O35185
Predicted Effect probably damaging
Transcript: ENSMUST00000032194
AA Change: C149F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: C149F

DomainStartEndE-ValueType
HLH 58 113 2.52e-11 SMART
ORANGE 140 184 5.91e-13 SMART
low complexity region 230 248 N/A INTRINSIC
low complexity region 372 399 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137478
Predicted Effect probably benign
Transcript: ENSMUST00000163617
SMART Domains Protein: ENSMUSP00000132157
Gene: ENSMUSG00000030103

DomainStartEndE-ValueType
HLH 58 113 2.52e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204550
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. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in impaired immune function and hyperplasia of the lymphoid organs. Aging mutant animals exhibit autoimmune disease. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,814,406 (GRCm39) S1129C possibly damaging Het
Afm A T 5: 90,679,466 (GRCm39) D320V probably damaging Het
Ap5m1 C T 14: 49,311,392 (GRCm39) T154I probably benign Het
Bcl11b G A 12: 107,956,065 (GRCm39) T28I probably benign Het
Bmper A T 9: 23,310,790 (GRCm39) D408V probably damaging Het
C1rl G A 6: 124,485,820 (GRCm39) C397Y probably damaging Het
C2cd4c A G 10: 79,448,665 (GRCm39) S161P probably damaging Het
Cemip2 A T 19: 21,819,564 (GRCm39) K1118N probably benign Het
Cep290 T C 10: 100,376,191 (GRCm39) probably benign Het
Cp T C 3: 20,042,165 (GRCm39) Y978H probably damaging Het
Csf2ra T C 19: 61,215,607 (GRCm39) D37G probably benign Het
Ddx24 A G 12: 103,383,801 (GRCm39) V596A probably damaging Het
Dnmt3l A G 10: 77,886,785 (GRCm39) S82G probably benign Het
Dock1 A G 7: 134,331,753 (GRCm39) Y46C probably damaging Het
Eno2 A T 6: 124,740,081 (GRCm39) D318E probably damaging Het
Gm43738 A C 3: 88,996,355 (GRCm39) L120R probably damaging Het
Hgsnat C A 8: 26,461,729 (GRCm39) C29F probably damaging Het
Hltf T A 3: 20,130,736 (GRCm39) V318D probably benign Het
Kcnh8 A G 17: 53,263,795 (GRCm39) H764R probably benign Het
Kcnq3 A G 15: 65,892,142 (GRCm39) F411S probably benign Het
Lpcat4 C A 2: 112,074,387 (GRCm39) N287K possibly damaging Het
Ltbp4 A C 7: 27,006,143 (GRCm39) F1512V probably damaging Het
Mctp1 A T 13: 77,172,929 (GRCm39) L868F probably damaging Het
Mdn1 T C 4: 32,713,360 (GRCm39) probably benign Het
Or5g23 A T 2: 85,438,501 (GRCm39) L251Q possibly damaging Het
Otub2 A G 12: 103,369,632 (GRCm39) D237G probably damaging Het
Pax3 A G 1: 78,079,997 (GRCm39) V463A probably benign Het
Podn T C 4: 107,875,048 (GRCm39) K573R possibly damaging Het
Ppp5c A C 7: 16,740,835 (GRCm39) S378A probably benign Het
Pramel29 A G 4: 143,939,531 (GRCm39) V2A probably benign Het
Prl2a1 T A 13: 27,988,914 (GRCm39) L13Q probably damaging Het
Ptgir A G 7: 16,641,526 (GRCm39) T70A probably damaging Het
Ralyl C A 3: 14,104,781 (GRCm39) N15K probably damaging Het
Rbck1 C T 2: 152,172,997 (GRCm39) R17Q possibly damaging Het
Ryr1 A G 7: 28,796,884 (GRCm39) Y973H probably damaging Het
Sh2d6 A G 6: 72,492,285 (GRCm39) V260A probably damaging Het
Spen G A 4: 141,196,819 (GRCm39) P3559S probably damaging Het
Tbcd T A 11: 121,494,535 (GRCm39) V1032D probably damaging Het
Trav12-1 T A 14: 53,776,024 (GRCm39) V59E probably damaging Het
Unc93a T A 17: 13,344,455 (GRCm39) Q29L probably damaging Het
Zzef1 A G 11: 72,808,525 (GRCm39) probably benign Het
Other mutations in Bhlhe40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Bhlhe40 APN 6 108,638,139 (GRCm39) missense probably benign 0.25
IGL01146:Bhlhe40 APN 6 108,641,901 (GRCm39) missense possibly damaging 0.60
teedoff UTSW 6 108,641,818 (GRCm39) frame shift probably null
R0360:Bhlhe40 UTSW 6 108,641,711 (GRCm39) missense probably damaging 1.00
R1486:Bhlhe40 UTSW 6 108,641,890 (GRCm39) missense probably damaging 1.00
R5041:Bhlhe40 UTSW 6 108,639,546 (GRCm39) missense probably damaging 0.99
R5179:Bhlhe40 UTSW 6 108,642,169 (GRCm39) missense possibly damaging 0.55
R5913:Bhlhe40 UTSW 6 108,642,154 (GRCm39) missense possibly damaging 0.79
R6281:Bhlhe40 UTSW 6 108,641,423 (GRCm39) splice site probably null
R6283:Bhlhe40 UTSW 6 108,641,992 (GRCm39) missense probably damaging 1.00
R6405:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6406:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6595:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6654:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6656:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6657:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6659:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6734:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R6968:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R7105:Bhlhe40 UTSW 6 108,641,997 (GRCm39) missense possibly damaging 0.96
R7323:Bhlhe40 UTSW 6 108,642,242 (GRCm39) missense probably benign 0.42
R7395:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R7399:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R7472:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R7563:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R7726:Bhlhe40 UTSW 6 108,639,559 (GRCm39) missense probably benign
R8058:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8319:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8320:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8380:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8381:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8428:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8431:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8432:Bhlhe40 UTSW 6 108,641,818 (GRCm39) frame shift probably null
R8988:Bhlhe40 UTSW 6 108,639,518 (GRCm39) missense probably damaging 1.00
R9381:Bhlhe40 UTSW 6 108,642,244 (GRCm39) missense probably damaging 1.00
R9582:Bhlhe40 UTSW 6 108,638,467 (GRCm39) missense probably benign 0.04
Posted On 2015-12-18