Incidental Mutation 'R6464:Helt'
ID 517742
Institutional Source Beutler Lab
Gene Symbol Helt
Ensembl Gene ENSMUSG00000047171
Gene Name helt bHLH transcription factor
Synonyms megane, Heslike
MMRRC Submission 044597-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # R6464 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 46745076-46747708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46745571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
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: D142G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054823
Gene: ENSMUSG00000047171
AA Change: D142G

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: D104G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210696
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,265,354 (GRCm39) S769T probably damaging Het
Apoe G A 7: 19,431,461 (GRCm39) T52M probably damaging Het
Arhgef10l A C 4: 140,314,126 (GRCm39) M230R probably benign Het
Cdkl4 A T 17: 80,832,781 (GRCm39) I321N probably benign Het
Ceacam5 T C 7: 17,481,391 (GRCm39) probably null Het
Cfap70 T C 14: 20,451,107 (GRCm39) probably null Het
Clasp2 A G 9: 113,602,785 (GRCm39) Y195C probably damaging Het
Clip2 T C 5: 134,520,779 (GRCm39) I999V probably benign Het
Cntnap5a A G 1: 116,112,138 (GRCm39) D476G probably benign Het
Col6a6 C T 9: 105,666,152 (GRCm39) M1I probably null Het
Cyp27a1 T C 1: 74,775,047 (GRCm39) V292A possibly damaging Het
Cyp2c29 A G 19: 39,317,669 (GRCm39) Y385C probably damaging Het
Dsg3 A C 18: 20,666,583 (GRCm39) R597S probably benign Het
Fam131c T C 4: 141,109,653 (GRCm39) I95T probably damaging Het
Fam13b A T 18: 34,606,684 (GRCm39) C302* probably null Het
Fkbp15 T C 4: 62,226,315 (GRCm39) K745E possibly damaging Het
Flg T A 3: 93,188,688 (GRCm39) probably benign Het
Gm11559 T C 11: 99,755,542 (GRCm39) C64R unknown Het
Helz2 T C 2: 180,876,862 (GRCm39) T1211A probably benign Het
Ifna9 T C 4: 88,510,487 (GRCm39) R46G possibly damaging Het
Kif20b G A 19: 34,911,841 (GRCm39) V235I probably benign Het
Kif7 A G 7: 79,363,842 (GRCm39) V22A possibly damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lipf A T 19: 33,950,944 (GRCm39) Y305F probably benign Het
Lpar1 A G 4: 58,486,875 (GRCm39) L132P possibly damaging Het
Magi1 A T 6: 93,676,770 (GRCm39) V834E probably damaging Het
Meltf T C 16: 31,709,594 (GRCm39) Y432H probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Myo1f T C 17: 33,795,621 (GRCm39) L59P probably damaging Het
Naa25 G A 5: 121,556,024 (GRCm39) D271N probably damaging Het
Or10ag55-ps1 A T 2: 87,139,951 (GRCm39) I273F probably damaging Het
Or8u3-ps A T 2: 85,952,752 (GRCm39) I162F possibly damaging Het
Otoa A G 7: 120,701,828 (GRCm39) Q169R probably damaging Het
Pde4dip C T 3: 97,617,660 (GRCm39) D1723N probably damaging Het
Ptdss2 T C 7: 140,732,124 (GRCm39) V175A probably damaging Het
Rdh8 G T 9: 20,734,696 (GRCm39) R121L probably damaging Het
Rpl23 T C 11: 97,669,111 (GRCm39) probably null Het
Scn5a T C 9: 119,363,646 (GRCm39) D498G probably damaging Het
Slc39a14 G C 14: 70,544,177 (GRCm39) L470V probably damaging Het
Smok2a C T 17: 13,445,317 (GRCm39) A298V probably damaging Het
Tesk2 A C 4: 116,660,046 (GRCm39) D388A probably damaging Het
Tnik G A 3: 28,666,119 (GRCm39) probably null Het
Ube3a T A 7: 58,925,931 (GRCm39) Y236* probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vinac1 T C 2: 128,881,465 (GRCm39) T154A possibly damaging Het
Vmn1r74 A T 7: 11,581,131 (GRCm39) I144L possibly damaging Het
Vmn2r1 G A 3: 64,008,766 (GRCm39) D482N probably benign Het
Vwf T C 6: 125,616,363 (GRCm39) probably null Het
Wdr97 A G 15: 76,246,977 (GRCm39) T1413A probably benign Het
Zfp703 C G 8: 27,469,355 (GRCm39) P340A probably damaging Het
Znfx1 T C 2: 166,888,842 (GRCm39) S789G probably benign Het
Other mutations in Helt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Helt APN 8 46,746,559 (GRCm39) missense probably damaging 1.00
IGL02586:Helt APN 8 46,746,276 (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
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
Predicted Primers PCR Primer
(F):5'- GATTGAGATAATGCCGGTCCAG -3'
(R):5'- CACTACGGTTACCACGAGTG -3'

Sequencing Primer
(F):5'- CCTGCATCGGAGCCAAGAAG -3'
(R):5'- GCATGAAGAACCTGGTGCACTAC -3'
Posted On 2018-05-21