Incidental Mutation 'IGL00091:Atoh1'
ID 1575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atoh1
Ensembl Gene ENSMUSG00000073043
Gene Name atonal bHLH transcription factor 1
Synonyms Math1, bHLHa14, Hath1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00091
Quality Score
Status
Chromosome 6
Chromosomal Location 64706109-64708229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64706568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 88 (S88P)
Ref Sequence ENSEMBL: ENSMUSP00000098903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101351]
AlphaFold P48985
Predicted Effect possibly damaging
Transcript: ENSMUST00000101351
AA Change: S88P

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: S88P

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
HLH 162 214 1.1e-20 SMART
low complexity region 243 268 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a decreased cerebellum without folia, and lack cerebellar granule neurons, inner-ear hair cells, D1 interneurons, and goblet, enteroendocrine, and Paneth cells. Mutants fail to breathe properly and die at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,485,157 (GRCm39) Y400F probably benign Het
Adamts8 C A 9: 30,864,796 (GRCm39) T429K probably damaging Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Ano7 A T 1: 93,329,888 (GRCm39) H775L probably benign Het
Apoo-ps A T 13: 107,551,134 (GRCm39) noncoding transcript Het
Arid2 T C 15: 96,270,183 (GRCm39) V1432A probably benign Het
C130050O18Rik A G 5: 139,400,601 (GRCm39) E218G probably damaging Het
Cacna2d1 T A 5: 16,417,942 (GRCm39) F155L probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cyp1a2 G T 9: 57,589,352 (GRCm39) S154* probably null Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dmbt1 C A 7: 130,681,270 (GRCm39) probably benign Het
Dnajc22 T A 15: 98,999,059 (GRCm39) F81L possibly damaging Het
Eml5 G A 12: 98,839,468 (GRCm39) probably benign Het
Fpgs A T 2: 32,576,559 (GRCm39) probably benign Het
Gab2 T C 7: 96,951,650 (GRCm39) S537P possibly damaging Het
Gmds G A 13: 32,418,373 (GRCm39) S37L probably damaging Het
Ipo13 T C 4: 117,760,602 (GRCm39) E626G probably benign Het
Kcng1 T C 2: 168,110,684 (GRCm39) H160R probably benign Het
Lama3 A G 18: 12,713,349 (GRCm39) T1608A probably benign Het
Lama4 A C 10: 38,948,801 (GRCm39) S855R probably damaging Het
Ltbp1 C T 17: 75,532,333 (GRCm39) H454Y probably damaging Het
Map3k14 C A 11: 103,118,405 (GRCm39) G594C probably damaging Het
Mcph1 A G 8: 18,682,636 (GRCm39) N591S possibly damaging Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Mptx2 T G 1: 173,102,455 (GRCm39) N78T probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Nup50 T A 15: 84,819,605 (GRCm39) F293Y probably benign Het
Ogn A G 13: 49,774,514 (GRCm39) Y219C probably damaging Het
Pdia3 T C 2: 121,244,659 (GRCm39) L47P probably damaging Het
Piwil4 A T 9: 14,614,393 (GRCm39) D786E probably damaging Het
Pspc1 A G 14: 57,009,168 (GRCm39) L222P probably damaging Het
Ptchd3 T A 11: 121,721,972 (GRCm39) Y282N probably damaging Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpini2 T C 3: 75,156,549 (GRCm39) Y327C probably damaging Het
Spire2 A G 8: 124,080,798 (GRCm39) D14G probably damaging Het
Stab2 A T 10: 86,705,070 (GRCm39) probably null Het
Timeless T C 10: 128,077,577 (GRCm39) L219P probably damaging Het
Tmem63a C T 1: 180,790,653 (GRCm39) T437M probably damaging Het
Tslp A G 18: 32,948,448 (GRCm39) probably benign Het
Ttbk2 C A 2: 120,579,314 (GRCm39) G534* probably null Het
Uggt1 T C 1: 36,218,633 (GRCm39) probably benign Het
Vmn2r118 T C 17: 55,899,708 (GRCm39) E732G probably damaging Het
Zfhx2 G A 14: 55,304,022 (GRCm39) P1321S possibly damaging Het
Zfp58 A G 13: 67,639,114 (GRCm39) V459A probably benign Het
Zfp831 T C 2: 174,487,451 (GRCm39) S709P possibly damaging Het
Other mutations in Atoh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02126:Atoh1 APN 6 64,706,334 (GRCm39) missense probably damaging 1.00
R1354:Atoh1 UTSW 6 64,706,341 (GRCm39) missense possibly damaging 0.53
R1674:Atoh1 UTSW 6 64,706,914 (GRCm39) missense possibly damaging 0.88
R1675:Atoh1 UTSW 6 64,707,141 (GRCm39) missense probably benign 0.01
R1895:Atoh1 UTSW 6 64,706,443 (GRCm39) missense probably benign 0.01
R1946:Atoh1 UTSW 6 64,706,443 (GRCm39) missense probably benign 0.01
R1988:Atoh1 UTSW 6 64,706,617 (GRCm39) missense probably benign 0.04
R2566:Atoh1 UTSW 6 64,706,668 (GRCm39) missense probably damaging 1.00
R3730:Atoh1 UTSW 6 64,706,557 (GRCm39) missense probably benign 0.00
R3893:Atoh1 UTSW 6 64,707,117 (GRCm39) missense probably damaging 1.00
R4241:Atoh1 UTSW 6 64,706,758 (GRCm39) missense probably damaging 1.00
R7411:Atoh1 UTSW 6 64,706,914 (GRCm39) missense probably damaging 1.00
R7749:Atoh1 UTSW 6 64,706,904 (GRCm39) missense possibly damaging 0.89
R8196:Atoh1 UTSW 6 64,707,226 (GRCm39) missense probably benign 0.00
R8289:Atoh1 UTSW 6 64,706,893 (GRCm39) missense probably damaging 1.00
R8410:Atoh1 UTSW 6 64,706,634 (GRCm39) missense probably benign
R8444:Atoh1 UTSW 6 64,706,641 (GRCm39) missense probably benign 0.13
R8744:Atoh1 UTSW 6 64,706,902 (GRCm39) missense probably damaging 0.97
R8854:Atoh1 UTSW 6 64,706,189 (GRCm39) start gained probably benign
R8918:Atoh1 UTSW 6 64,707,241 (GRCm39) missense probably damaging 1.00
R9206:Atoh1 UTSW 6 64,706,713 (GRCm39) missense probably benign 0.13
Z1191:Atoh1 UTSW 6 64,706,364 (GRCm39) missense probably benign 0.12
Posted On 2011-07-12