Incidental Mutation 'IGL02586:Helt'
ID 299537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Helt
Ensembl Gene ENSMUSG00000047171
Gene Name helt bHLH transcription factor
Synonyms megane, Heslike
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # IGL02586
Quality Score
Status
Chromosome 8
Chromosomal Location 46745076-46747708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46746276 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TS99
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
Abca13 A G 11: 9,243,983 (GRCm39) I1949V possibly damaging Het
Anapc2 T A 2: 25,175,108 (GRCm39) M742K probably benign Het
Arhgef12 T A 9: 42,917,200 (GRCm39) K380* probably null Het
Armc1 G T 3: 19,188,192 (GRCm39) probably benign Het
Bltp1 G A 3: 37,098,757 (GRCm39) W4626* probably null Het
Diaph3 A T 14: 87,223,512 (GRCm39) L323* probably null Het
Fbxo11 C T 17: 88,318,711 (GRCm39) probably benign Het
Flywch1 C T 17: 23,974,676 (GRCm39) A655T probably benign Het
Frmpd1 A G 4: 45,285,160 (GRCm39) D1327G probably damaging Het
Ggact G A 14: 123,128,942 (GRCm39) T91I possibly damaging Het
Gm10250 T A 15: 5,150,412 (GRCm39) probably benign Het
Gsdmc4 T C 15: 63,765,641 (GRCm39) S303G probably damaging Het
Kcnf1 T A 12: 17,226,144 (GRCm39) S26C probably benign Het
Lilra6 T C 7: 3,911,819 (GRCm39) T280A probably benign Het
Lipo3 A T 19: 33,559,539 (GRCm39) D110E possibly damaging Het
Mepe C A 5: 104,485,316 (GRCm39) T152N probably benign Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,260,810 (GRCm39) D121G possibly damaging Het
Or6c214 A G 10: 129,590,524 (GRCm39) I265T possibly damaging Het
Peg3 T C 7: 6,713,068 (GRCm39) D718G probably benign Het
Phf2 A T 13: 48,967,334 (GRCm39) probably benign Het
Pigc A T 1: 161,798,503 (GRCm39) I162F probably benign Het
Raf1 A G 6: 115,597,267 (GRCm39) L11P probably damaging Het
Rlf T C 4: 121,007,261 (GRCm39) Y573C probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf149 T G 1: 39,604,296 (GRCm39) Q189P probably benign Het
Slc11a1 T C 1: 74,424,291 (GRCm39) probably benign Het
Slc22a12 C T 19: 6,590,487 (GRCm39) M234I probably benign Het
Slc28a1 A T 7: 80,814,167 (GRCm39) I455F probably benign Het
Slc35f5 T G 1: 125,512,273 (GRCm39) L358V probably damaging Het
Slc47a1 A T 11: 61,235,147 (GRCm39) V562D probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ushbp1 T C 8: 71,841,394 (GRCm39) probably benign Het
Vmn1r88 T A 7: 12,911,735 (GRCm39) Y30* probably null Het
Vmn2r27 A T 6: 124,201,434 (GRCm39) Y174* probably null Het
Wwox T C 8: 115,438,947 (GRCm39) Y338H possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zup1 A T 10: 33,811,261 (GRCm39) probably benign Het
Other mutations in Helt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Helt APN 8 46,746,559 (GRCm39) missense probably damaging 1.00
IGL02884:Helt APN 8 46,745,620 (GRCm39) missense probably damaging 1.00
R0042:Helt UTSW 8 46,745,433 (GRCm39) missense probably damaging 1.00
R2013:Helt UTSW 8 46,745,355 (GRCm39) missense probably damaging 1.00
R2339:Helt UTSW 8 46,745,709 (GRCm39) missense probably damaging 0.99
R3862:Helt UTSW 8 46,745,315 (GRCm39) missense probably benign 0.19
R5265:Helt UTSW 8 46,745,470 (GRCm39) missense probably damaging 0.98
R6464:Helt UTSW 8 46,745,571 (GRCm39) missense probably damaging 1.00
R7563:Helt UTSW 8 46,746,630 (GRCm39) start gained probably benign
R8260:Helt UTSW 8 46,745,745 (GRCm39) missense possibly damaging 0.82
R9237:Helt UTSW 8 46,745,536 (GRCm39) missense probably benign
Posted On 2015-04-16