Incidental Mutation 'R4693:Atoh7'
ID 355050
Institutional Source Beutler Lab
Gene Symbol Atoh7
Ensembl Gene ENSMUSG00000036816
Gene Name atonal bHLH transcription factor 7
Synonyms bHLHa13, Math5
MMRRC Submission 041944-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R4693 (G1)
Quality Score 199
Status Validated
Chromosome 10
Chromosomal Location 62935564-62937059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62936275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 114 (R114L)
Ref Sequence ENSEMBL: ENSMUSP00000039801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044059]
AlphaFold Q9Z2E5
Predicted Effect probably benign
Transcript: ENSMUST00000044059
AA Change: R114L

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039801
Gene: ENSMUSG00000036816
AA Change: R114L

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
HLH 47 99 6.02e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219964
Meta Mutation Damage Score 0.1796 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired differentiation of retinal ganglion cells resulting in an increase of amacrine cells. Mice show impaired optic nerve formation and one allele shows loss of circadian photoentrainment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 85,004,125 (GRCm39) Y478H probably damaging Het
Adar A T 3: 89,643,247 (GRCm39) H128L probably damaging Het
Angptl6 G T 9: 20,786,598 (GRCm39) D349E probably damaging Het
Anxa9 T C 3: 95,204,667 (GRCm39) T286A probably benign Het
Apobr A G 7: 126,186,019 (GRCm39) N510S probably damaging Het
Bank1 C G 3: 135,953,437 (GRCm39) R106P probably damaging Het
Best1 C T 19: 9,974,499 (GRCm39) G15D probably damaging Het
Best2 A T 8: 85,737,832 (GRCm39) F188I probably damaging Het
Ccdc88a T C 11: 29,432,241 (GRCm39) Y344H probably damaging Het
Col6a5 A G 9: 105,814,371 (GRCm39) L547P unknown Het
Cyp19a1 A T 9: 54,080,617 (GRCm39) S247T possibly damaging Het
Cyp26a1 T C 19: 37,686,925 (GRCm39) S126P probably benign Het
Dab1 G T 4: 104,536,750 (GRCm39) C180F probably damaging Het
Dclk2 T C 3: 86,722,400 (GRCm39) D412G possibly damaging Het
Dspp A T 5: 104,325,928 (GRCm39) S764C unknown Het
Dync1li1 C A 9: 114,535,166 (GRCm39) D143E probably damaging Het
Esm1 A T 13: 113,346,594 (GRCm39) D73V probably damaging Het
Etfdh A T 3: 79,513,110 (GRCm39) V431E probably damaging Het
Fam83c C T 2: 155,672,154 (GRCm39) R427H probably damaging Het
Galnt9 A G 5: 110,763,375 (GRCm39) Y93C probably damaging Het
Gm6818 G A 7: 38,100,126 (GRCm39) noncoding transcript Het
Gosr2 A G 11: 103,574,755 (GRCm39) S114P probably benign Het
Grip1 G A 10: 119,836,459 (GRCm39) V444I probably benign Het
Gvin-ps3 T G 7: 105,681,585 (GRCm39) noncoding transcript Het
Haus4 G T 14: 54,787,256 (GRCm39) A67E probably benign Het
Hectd2 T A 19: 36,591,738 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,695 (GRCm39) Y911H probably benign Het
Lim2 T C 7: 43,080,105 (GRCm39) Y31H probably damaging Het
Lims2 G A 18: 32,077,552 (GRCm39) R101H probably benign Het
Lrrc2 T A 9: 110,799,161 (GRCm39) M236K probably damaging Het
Lrrc37 T A 11: 103,510,686 (GRCm39) E427D unknown Het
Lrrk1 T C 7: 65,912,235 (GRCm39) Y1775C probably damaging Het
Mdga2 A G 12: 66,844,407 (GRCm39) V197A possibly damaging Het
Mfhas1 T A 8: 36,056,329 (GRCm39) L268Q probably damaging Het
Mlh1 A G 9: 111,084,726 (GRCm39) I216T probably damaging Het
Mrc2 G A 11: 105,234,528 (GRCm39) C1016Y probably benign Het
Mvp C A 7: 126,597,500 (GRCm39) V168F probably damaging Het
Mybphl A G 3: 108,282,494 (GRCm39) T176A probably benign Het
Myt1 T A 2: 181,437,532 (GRCm39) L81Q probably damaging Het
Ncbp3 T C 11: 72,966,503 (GRCm39) L453S probably benign Het
Or4c1 T A 2: 89,133,621 (GRCm39) E105V probably benign Het
Or4c114 T C 2: 88,905,412 (GRCm39) T8A possibly damaging Het
Or55b10 T A 7: 102,143,659 (GRCm39) I108F probably damaging Het
Or5b125-ps1 C A 19: 13,056,226 (GRCm39) noncoding transcript Het
Or5l14 A T 2: 87,793,053 (GRCm39) F61Y probably benign Het
Pak4 A T 7: 28,263,674 (GRCm39) M354K probably damaging Het
Pax3 T C 1: 78,173,383 (GRCm39) T2A probably benign Het
Pcdh17 A G 14: 84,770,960 (GRCm39) D1146G probably damaging Het
Pcyt1a T C 16: 32,289,042 (GRCm39) probably benign Het
Pfkp C T 13: 6,650,671 (GRCm39) G467D possibly damaging Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Pth1r A G 9: 110,560,692 (GRCm39) V25A probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Ptprf T A 4: 118,068,219 (GRCm39) E1772D probably benign Het
Sall2 T C 14: 52,551,935 (GRCm39) H420R probably damaging Het
Sbds G A 5: 130,279,816 (GRCm39) R63W probably damaging Het
Sccpdh A G 1: 179,495,975 (GRCm39) T19A possibly damaging Het
Scn8a A T 15: 100,913,572 (GRCm39) D988V probably damaging Het
Slamf6 C T 1: 171,761,680 (GRCm39) Q34* probably null Het
Slc22a6 T A 19: 8,601,016 (GRCm39) I403N probably damaging Het
Sox5 T C 6: 143,781,042 (GRCm39) Y574C probably damaging Het
Sptbn5 T A 2: 119,889,897 (GRCm39) probably benign Het
Srcap T A 7: 127,137,716 (GRCm39) V1022E probably damaging Het
Tbx3 G A 5: 119,815,635 (GRCm39) E292K possibly damaging Het
Tbx5 A T 5: 119,979,964 (GRCm39) H170L probably damaging Het
Tcf12 A T 9: 71,776,249 (GRCm39) probably benign Het
Themis G A 10: 28,658,647 (GRCm39) R558H probably damaging Het
Tiam1 T C 16: 89,640,170 (GRCm39) E849G possibly damaging Het
Vav3 A G 3: 109,470,534 (GRCm39) probably benign Het
Vmn2r90 T A 17: 17,953,956 (GRCm39) C707S possibly damaging Het
Vmn2r96 T G 17: 18,803,270 (GRCm39) N201K probably benign Het
Zfp148 C T 16: 33,288,505 (GRCm39) R207C probably damaging Het
Zfp648 G T 1: 154,080,152 (GRCm39) A104S probably benign Het
Other mutations in Atoh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2325:Atoh7 UTSW 10 62,935,924 (GRCm39) utr 5 prime probably benign
R4779:Atoh7 UTSW 10 62,936,187 (GRCm39) small deletion probably benign
R6152:Atoh7 UTSW 10 62,936,278 (GRCm39) missense probably damaging 1.00
R8943:Atoh7 UTSW 10 62,935,938 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GATGAAGTCGGCCTGCAAAC -3'
(R):5'- AGGGAGGCAATGAACTCATTTC -3'

Sequencing Primer
(F):5'- CATGCAGGGGCTGAACAC -3'
(R):5'- CATTTCATCTACCTGTTTGAAACGG -3'
Posted On 2015-10-21