Incidental Mutation 'IGL00495:Bhlhe40'
ID5394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bhlhe40
Ensembl Gene ENSMUSG00000030103
Gene Namebasic helix-loop-helix family, member e40
SynonymsStra13, C130042M06Rik, eip1 (E47 interaction protein 1), Sharp2, Stra14, DEC1, Bhlhb2, cytokine response gene 8, CR8, Clast5
Accession Numbers

Genbank: NM_011498; MGI: 1097714

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00495
Quality Score
Status
Chromosome6
Chromosomal Location108660629-108666925 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108661178 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 33 (M33K)
Ref Sequence ENSEMBL: ENSMUSP00000032194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032194] [ENSMUST00000163617]
Predicted Effect probably benign
Transcript: ENSMUST00000032194
AA Change: M33K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032194
Gene: ENSMUSG00000030103
AA Change: M33K

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
AA Change: M33K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132157
Gene: ENSMUSG00000030103
AA Change: M33K

DomainStartEndE-ValueType
HLH 58 113 2.52e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204397
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,415,843 T679A probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Chrm2 A T 6: 36,523,420 I71F possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajb8 G T 6: 88,222,854 R124L possibly damaging Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Mrrf G A 2: 36,141,631 R53H possibly damaging Het
Ms4a6d G A 19: 11,601,885 T76I probably damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Socs4 G A 14: 47,290,252 V215I probably benign Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Bhlhe40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Bhlhe40 APN 6 108664940 missense possibly damaging 0.60
IGL02950:Bhlhe40 APN 6 108664542 missense probably damaging 1.00
teedoff UTSW 6 108664857 frame shift probably null
R0360:Bhlhe40 UTSW 6 108664750 missense probably damaging 1.00
R1486:Bhlhe40 UTSW 6 108664929 missense probably damaging 1.00
R5041:Bhlhe40 UTSW 6 108662585 missense probably damaging 0.99
R5179:Bhlhe40 UTSW 6 108665208 missense possibly damaging 0.55
R5913:Bhlhe40 UTSW 6 108665193 missense possibly damaging 0.79
R6281:Bhlhe40 UTSW 6 108664462 splice site probably null
R6283:Bhlhe40 UTSW 6 108665031 missense probably damaging 1.00
R6405:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6406:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6595:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6654:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6656:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6657:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6659:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6734:Bhlhe40 UTSW 6 108664857 frame shift probably null
R6968:Bhlhe40 UTSW 6 108664857 frame shift probably null
R7105:Bhlhe40 UTSW 6 108665036 missense possibly damaging 0.96
R7323:Bhlhe40 UTSW 6 108665281 missense probably benign 0.42
R7395:Bhlhe40 UTSW 6 108664857 frame shift probably null
R7399:Bhlhe40 UTSW 6 108664857 frame shift probably null
R7472:Bhlhe40 UTSW 6 108664857 frame shift probably null
R7563:Bhlhe40 UTSW 6 108664857 frame shift probably null
R7726:Bhlhe40 UTSW 6 108662598 missense probably benign
R8058:Bhlhe40 UTSW 6 108664857 frame shift probably null
R8319:Bhlhe40 UTSW 6 108664857 frame shift probably null
R8320:Bhlhe40 UTSW 6 108664857 frame shift probably null
R8380:Bhlhe40 UTSW 6 108664857 frame shift probably null
R8381:Bhlhe40 UTSW 6 108664857 frame shift probably null
Posted On2012-04-20