Incidental Mutation 'IGL02586:Helt'
ID299537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Helt
Ensembl Gene ENSMUSG00000047171
Gene Namehelt bHLH transcription factor
Synonymsmegane, Heslike
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.803) question?
Stock #IGL02586
Quality Score
Status
Chromosome8
Chromosomal Location46292039-46294671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46293239 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 15 (E15G)
Ref Sequence ENSEMBL: ENSMUSP00000147465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058636] [ENSMUST00000210652]
Predicted Effect probably damaging
Transcript: ENSMUST00000058636
AA Change: E53G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054823
Gene: ENSMUSG00000047171
AA Change: E53G

DomainStartEndE-ValueType
HLH 16 71 2.05e-11 SMART
Pfam:Hairy_orange 85 126 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210652
AA Change: E15G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210696
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele show loss of GABAergic neurons in the superior colliculus, limb cramping, seizures, impaired suckling, reduced growth and death between 2 and 5 wks of age. Mice homozygous for a reporter allele show loss of GABAergic neurons and increased glutamatergic generation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,044,608 W4626* probably null Het
Abca13 A G 11: 9,293,983 I1949V possibly damaging Het
Anapc2 T A 2: 25,285,096 M742K probably benign Het
Arhgef12 T A 9: 43,005,904 K380* probably null Het
Armc1 G T 3: 19,134,028 probably benign Het
Diaph3 A T 14: 86,986,076 L323* probably null Het
Fbxo11 C T 17: 88,011,283 probably benign Het
Flywch1 C T 17: 23,755,702 A655T probably benign Het
Frmpd1 A G 4: 45,285,160 D1327G probably damaging Het
Ggact G A 14: 122,891,530 T91I possibly damaging Het
Gm10250 T A 15: 5,120,930 probably benign Het
Gsdmc4 T C 15: 63,893,792 S303G probably damaging Het
Kcnf1 T A 12: 17,176,143 S26C probably benign Het
Lilra6 T C 7: 3,908,820 T280A probably benign Het
Lipo3 A T 19: 33,582,139 D110E possibly damaging Het
Mepe C A 5: 104,337,450 T152N probably benign Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Olfr807 A G 10: 129,754,655 I265T possibly damaging Het
Olfr994 T C 2: 85,430,466 D121G possibly damaging Het
Peg3 T C 7: 6,710,069 D718G probably benign Het
Phf2 A T 13: 48,813,858 probably benign Het
Pigc A T 1: 161,970,934 I162F probably benign Het
Raf1 A G 6: 115,620,306 L11P probably damaging Het
Rlf T C 4: 121,150,064 Y573C probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf149 T G 1: 39,565,215 Q189P probably benign Het
Slc11a1 T C 1: 74,385,132 probably benign Het
Slc22a12 C T 19: 6,540,457 M234I probably benign Het
Slc28a1 A T 7: 81,164,419 I455F probably benign Het
Slc35f5 T G 1: 125,584,536 L358V probably damaging Het
Slc47a1 A T 11: 61,344,321 V562D probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ushbp1 T C 8: 71,388,750 probably benign Het
Vmn1r88 T A 7: 13,177,808 Y30* probably null Het
Vmn2r27 A T 6: 124,224,475 Y174* probably null Het
Wwox T C 8: 114,712,207 Y338H possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zufsp A T 10: 33,935,265 probably benign Het
Other mutations in Helt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Helt APN 8 46293522 missense probably damaging 1.00
IGL02884:Helt APN 8 46292583 missense probably damaging 1.00
R0042:Helt UTSW 8 46292396 missense probably damaging 1.00
R2013:Helt UTSW 8 46292318 missense probably damaging 1.00
R2339:Helt UTSW 8 46292672 missense probably damaging 0.99
R3862:Helt UTSW 8 46292278 missense probably benign 0.19
R5265:Helt UTSW 8 46292433 missense probably damaging 0.98
R6464:Helt UTSW 8 46292534 missense probably damaging 1.00
R7563:Helt UTSW 8 46293593 start gained probably benign
Posted On2015-04-16