Incidental Mutation 'R6152:Atoh7'
ID 489341
Institutional Source Beutler Lab
Gene Symbol Atoh7
Ensembl Gene ENSMUSG00000036816
Gene Name atonal bHLH transcription factor 7
Synonyms bHLHa13, Math5
MMRRC Submission 044299-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R6152 (G1)
Quality Score 204.009
Status Not validated
Chromosome 10
Chromosomal Location 62935564-62937059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62936278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 115 (D115V)
Ref Sequence ENSEMBL: ENSMUSP00000039801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044059]
AlphaFold Q9Z2E5
Predicted Effect probably damaging
Transcript: ENSMUST00000044059
AA Change: D115V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039801
Gene: ENSMUSG00000036816
AA Change: D115V

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,204,187 (GRCm39) C363R probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anln A C 9: 22,271,803 (GRCm39) I684R probably damaging Het
Atp11a T A 8: 12,896,100 (GRCm39) I223K probably damaging Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Cblb T A 16: 51,961,419 (GRCm39) C345S probably damaging Het
Cep250 A G 2: 155,823,358 (GRCm39) E1003G possibly damaging Het
Chpf C T 1: 75,452,287 (GRCm39) R389H possibly damaging Het
Cntnap5c A G 17: 58,593,881 (GRCm39) D740G possibly damaging Het
Col19a1 T C 1: 24,413,702 (GRCm39) T411A unknown Het
Dgat2 T C 7: 98,813,885 (GRCm39) N99S probably benign Het
Fbxo7 A T 10: 85,860,560 (GRCm39) T56S probably benign Het
Gm15130 T A 2: 110,974,950 (GRCm39) Q71L unknown Het
Gpr161 T A 1: 165,137,864 (GRCm39) V150E possibly damaging Het
Hmcn1 T C 1: 150,441,176 (GRCm39) E5360G probably damaging Het
Hmg20a A G 9: 56,388,892 (GRCm39) D153G probably damaging Het
Hrct1 T A 4: 43,727,498 (GRCm39) V46D possibly damaging Het
Idh1 T C 1: 65,198,689 (GRCm39) T394A probably damaging Het
Kazn A G 4: 141,836,598 (GRCm39) I547T unknown Het
Klhdc3 A T 17: 46,988,633 (GRCm39) I142N probably damaging Het
Lrrc39 G T 3: 116,364,624 (GRCm39) probably null Het
Mamdc4 T C 2: 25,457,451 (GRCm39) D510G probably damaging Het
Mcm2 TTCTGATAGATGGTCTG TTCTG 6: 88,866,891 (GRCm39) probably benign Het
Ndfip2 A G 14: 105,535,538 (GRCm39) I275V possibly damaging Het
Or1i2 T C 10: 78,448,409 (GRCm39) D22G probably benign Het
Or5b24 A T 19: 12,912,851 (GRCm39) I250L probably benign Het
Pacsin2 A C 15: 83,261,900 (GRCm39) D154E probably damaging Het
Pcdhb5 T A 18: 37,455,886 (GRCm39) C755* probably null Het
Pcnx2 T C 8: 126,480,491 (GRCm39) S1939G probably damaging Het
Pfkl A T 10: 77,825,985 (GRCm39) H602Q probably benign Het
Pon3 G A 6: 5,221,716 (GRCm39) R305C probably damaging Het
Prpf6 A G 2: 181,263,580 (GRCm39) R147G probably damaging Het
Sh3yl1 A G 12: 30,992,034 (GRCm39) E201G probably benign Het
Slc25a36 A G 9: 96,982,210 (GRCm39) Y22H probably damaging Het
Sult6b2 A C 6: 142,750,102 (GRCm39) S5R probably benign Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tysnd1 A G 10: 61,532,113 (GRCm39) D255G probably damaging Het
Zbtb6 A C 2: 37,319,255 (GRCm39) I224M probably benign Het
Zdhhc8 G T 16: 18,041,202 (GRCm39) N719K possibly damaging Het
Zkscan16 A G 4: 58,946,260 (GRCm39) E45G possibly damaging Het
Other mutations in Atoh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2325:Atoh7 UTSW 10 62,935,924 (GRCm39) utr 5 prime probably benign
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
R8943:Atoh7 UTSW 10 62,935,938 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- ATGAAGTCGGCCTGCAAACC -3'
(R):5'- CTCATTTCATCTACCTGTTTGAAACGG -3'

Sequencing Primer
(F):5'- CATGCAGGGGCTGAACAC -3'
(R):5'- CTGTTTGAAACGGGAAGGAAATTAAG -3'
Posted On 2017-10-10