Incidental Mutation 'R5265:Helt'
ID401655
Institutional Source Beutler Lab
Gene Symbol Helt
Ensembl Gene ENSMUSG00000047171
Gene Namehelt bHLH transcription factor
Synonymsmegane, Heslike
MMRRC Submission 042833-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.804) question?
Stock #R5265 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location46292039-46294671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46292433 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 138 (W138R)
Ref Sequence ENSEMBL: ENSMUSP00000147465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058636] [ENSMUST00000210652]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058636
AA Change: W176R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054823
Gene: ENSMUSG00000047171
AA Change: W176R

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: W138R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210696
Meta Mutation Damage Score 0.094 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,258,894 W66R probably damaging Het
Adamts3 A G 5: 89,861,552 V84A possibly damaging Het
Caap1 C A 4: 94,501,228 E290* probably null Het
Cant1 G A 11: 118,408,050 R296C probably damaging Het
Ccdc114 T A 7: 45,947,435 D395E probably damaging Het
Cdh5 A T 8: 104,142,739 H699L probably benign Het
Cfdp1 T C 8: 111,830,985 T175A probably benign Het
Col4a4 C T 1: 82,493,591 G681E unknown Het
Comtd1 G A 14: 21,848,793 T27I probably benign Het
Copg1 T A 6: 87,892,270 V155D probably damaging Het
Dag1 A G 9: 108,207,699 Y748H possibly damaging Het
Dmwd T A 7: 19,080,281 N285K possibly damaging Het
Dsp A G 13: 38,195,183 E1968G possibly damaging Het
Ednra A G 8: 77,667,375 I364T probably damaging Het
Elovl3 C A 19: 46,134,681 T232K probably damaging Het
Ercc3 T A 18: 32,254,243 I503N probably damaging Het
Ercc6 C A 14: 32,569,623 A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,614,496 probably null Het
H2-DMb2 G T 17: 34,148,562 V117F probably damaging Het
Itga11 A T 9: 62,737,412 H215L probably benign Het
Kcnn1 T A 8: 70,854,653 I156F probably benign Het
Kdm1b A G 13: 47,062,969 N272D probably benign Het
Kdm2b T C 5: 122,878,588 T1161A probably damaging Het
Lin54 A G 5: 100,485,519 L102P probably damaging Het
Mlh1 A C 9: 111,271,523 M1R probably null Het
Naip2 G A 13: 100,152,560 L1165F probably damaging Het
Nfkbiz A G 16: 55,819,641 S118P probably damaging Het
Nkx3-2 T A 5: 41,761,848 M266L probably benign Het
Npr1 T C 3: 90,457,002 E771G probably benign Het
Obox8 C T 7: 14,332,029 R188H probably benign Het
Olfr187 A T 16: 59,036,143 V198D possibly damaging Het
Olfr497 T A 7: 108,423,402 V277E possibly damaging Het
Palm3 T C 8: 84,021,530 probably null Het
Palmd A T 3: 116,923,849 V333D possibly damaging Het
Pikfyve A G 1: 65,267,829 E1747G possibly damaging Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Ranbp3l T A 15: 9,007,203 F127I probably benign Het
Rsl1d1 A G 16: 11,201,384 F97L possibly damaging Het
Scaper A G 9: 55,864,546 V362A probably benign Het
Scg5 A T 2: 113,776,865 L192* probably null Het
Slc34a2 T C 5: 53,061,434 I198T probably damaging Het
Slc45a3 T A 1: 131,978,194 D318E possibly damaging Het
Sorl1 A G 9: 42,106,516 M105T possibly damaging Het
St3gal5 T A 6: 72,149,131 I320N probably damaging Het
Stx17 A G 4: 48,183,470 probably benign Het
Syt5 C T 7: 4,541,075 probably null Het
Thrap3 A G 4: 126,167,640 S774P probably damaging Het
Tnc A T 4: 63,993,206 M1376K probably benign Het
Tnks1bp1 T A 2: 85,062,754 D1008E probably benign Het
Trav7-1 G T 14: 52,655,304 A105S probably damaging Het
Vmn1r28 T A 6: 58,265,964 V264D probably damaging Het
Vmn1r44 T C 6: 89,893,839 V46A probably benign Het
Vmn2r10 A G 5: 108,995,720 I788T probably damaging Het
Vmn2r78 T A 7: 86,920,124 I75N probably damaging Het
Zfp821 T C 8: 109,724,359 M328T probably damaging Het
Zfp995 G A 17: 21,880,623 P210L possibly damaging Het
Other mutations in Helt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Helt APN 8 46293522 missense probably damaging 1.00
IGL02586:Helt APN 8 46293239 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
R6464:Helt UTSW 8 46292534 missense probably damaging 1.00
R7563:Helt UTSW 8 46293593 start gained probably benign
Predicted Primers PCR Primer
(F):5'- CGCAAAGTAATCTAGGCAGTG -3'
(R):5'- AAAGACACCAAGTATGCGCG -3'

Sequencing Primer
(F):5'- TGAGTGGGTGTCAGAGCAC -3'
(R):5'- AAGTATGCGCGCATCCTC -3'
Posted On2016-07-06