Incidental Mutation 'R2325:Atoh7'
ID 266113
Institutional Source Beutler Lab
Gene Symbol Atoh7
Ensembl Gene ENSMUSG00000036816
Gene Name atonal bHLH transcription factor 7
Synonyms bHLHa13, Math5
MMRRC Submission 040316-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R2325 (G1)
Quality Score 159
Status Not validated
Chromosome 10
Chromosomal Location 62935564-62937059 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to A at 62935924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044059] [ENSMUST00000044059]
AlphaFold Q9Z2E5
Predicted Effect probably benign
Transcript: ENSMUST00000044059
SMART Domains Protein: ENSMUSP00000039801
Gene: ENSMUSG00000036816

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
HLH 47 99 6.02e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044059
SMART Domains Protein: ENSMUSP00000039801
Gene: ENSMUSG00000036816

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Atp2b1 C T 10: 98,854,757 (GRCm39) Q219* probably null Het
B3galt2 A G 1: 143,522,926 (GRCm39) D354G probably benign Het
Cdh9 A G 15: 16,778,286 (GRCm39) R34G probably benign Het
Cyp4x1 A T 4: 114,981,576 (GRCm39) C126S probably benign Het
Dse A T 10: 34,060,043 (GRCm39) S21T probably benign Het
Ell2 T A 13: 75,917,745 (GRCm39) H558Q probably damaging Het
Elp1 A T 4: 56,784,622 (GRCm39) M457K probably benign Het
Esco2 A T 14: 66,064,027 (GRCm39) probably null Het
Fam170a A G 18: 50,414,917 (GRCm39) K188E possibly damaging Het
Gin1 A C 1: 97,720,286 (GRCm39) Y516S probably damaging Het
Gm8439 A G 4: 120,446,048 (GRCm39) E16G unknown Het
Gtf2b A G 3: 142,485,851 (GRCm39) T176A probably damaging Het
Kcnh6 C T 11: 105,924,661 (GRCm39) S822F probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp8 A T 4: 107,721,206 (GRCm39) D602V probably benign Het
Med12l A G 3: 59,139,875 (GRCm39) T817A probably damaging Het
Mroh9 A C 1: 162,854,099 (GRCm39) probably null Het
N4bp1 T C 8: 87,575,088 (GRCm39) I736V probably damaging Het
Nebl T C 2: 17,397,827 (GRCm39) K490E possibly damaging Het
P2ry1 A T 3: 60,910,999 (GRCm39) K46M probably damaging Het
Ppp1r37 A T 7: 19,266,609 (GRCm39) L426H probably damaging Het
Prkci T A 3: 31,085,217 (GRCm39) probably null Het
Prss35 G A 9: 86,638,357 (GRCm39) G376R probably damaging Het
Scube2 C G 7: 109,443,161 (GRCm39) C226S probably damaging Het
Slc26a5 T G 5: 22,024,692 (GRCm39) Y469S probably damaging Het
Stil T A 4: 114,889,904 (GRCm39) D797E probably benign Het
Thbs2 A T 17: 14,910,551 (GRCm39) probably null Het
Tmem132e C A 11: 82,325,341 (GRCm39) L114M probably damaging Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Vmn1r173 T A 7: 23,402,537 (GRCm39) C257* probably null Het
Zc3h15 G A 2: 83,483,783 (GRCm39) G53S probably damaging Het
Zfp462 A C 4: 55,013,712 (GRCm39) I1893L probably benign Het
Other mutations in Atoh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4693:Atoh7 UTSW 10 62,936,275 (GRCm39) missense probably benign 0.35
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
Posted On 2015-02-05