Incidental Mutation 'IGL02126:Atoh1'
ID280884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atoh1
Ensembl Gene ENSMUSG00000073043
Gene Nameatonal bHLH transcription factor 1
SynonymsbHLHa14, Hath1, Math1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02126
Quality Score
Status
Chromosome6
Chromosomal Location64729125-64731245 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64729350 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 10 (W10R)
Ref Sequence ENSEMBL: ENSMUSP00000098903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101351]
Predicted Effect probably damaging
Transcript: ENSMUST00000101351
AA Change: W10R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: W10R

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,139,856 V365M probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Angptl3 T C 4: 99,031,501 probably null Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Ccm2 A G 11: 6,594,154 T317A probably damaging Het
Ccnt1 A T 15: 98,567,603 W12R probably damaging Het
Celf1 T A 2: 91,001,063 L79H probably damaging Het
Cmip T C 8: 117,449,031 V423A probably damaging Het
Ddr1 T A 17: 35,688,589 I431F probably damaging Het
Dnah6 A G 6: 73,103,166 L2343P probably benign Het
Duox1 A G 2: 122,346,336 D1446G probably benign Het
Erich3 A G 3: 154,713,962 H231R possibly damaging Het
Fam221b T A 4: 43,666,450 I54F probably benign Het
Galntl5 T C 5: 25,189,841 F69L possibly damaging Het
Gba2 T G 4: 43,567,918 probably null Het
Gbf1 C A 19: 46,252,117 P46Q probably damaging Het
Gimap6 T G 6: 48,702,701 S134R probably damaging Het
Gm5424 A C 10: 62,071,598 noncoding transcript Het
Gm5724 T A 6: 141,739,013 T239S probably benign Het
Hexb T C 13: 97,178,024 K404E possibly damaging Het
Hs3st3a1 G A 11: 64,436,505 V147M probably damaging Het
Hsd17b4 T C 18: 50,181,996 V610A probably benign Het
Loxl3 T A 6: 83,048,647 W329R probably damaging Het
Lrrc52 A G 1: 167,446,006 F247S probably damaging Het
Naa38 C T 11: 69,396,219 R42W probably damaging Het
Nadsyn1 G A 7: 143,804,016 Q485* probably null Het
Nid1 A G 13: 13,489,158 probably null Het
Ofcc1 T C 13: 40,208,775 T224A probably benign Het
Olfr1029 T G 2: 85,976,173 I310S probably benign Het
Palld A G 8: 61,877,442 Y134H possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pfn3 T C 13: 55,414,886 D94G possibly damaging Het
Pkhd1 G A 1: 20,117,195 R3630C probably damaging Het
Por T A 5: 135,715,975 F31I probably benign Het
Ppp1r12c T C 7: 4,489,859 E127G probably benign Het
Ppp1r9a T A 6: 5,156,229 S1162T probably damaging Het
Psen2 C A 1: 180,229,923 A297S probably benign Het
Rpusd2 G A 2: 119,038,638 R514Q probably damaging Het
Rxrg A G 1: 167,634,460 M235V probably damaging Het
Sash1 T C 10: 8,739,465 M644V probably damaging Het
Sf3b3 T C 8: 110,823,443 T648A probably benign Het
Ssu72 T C 4: 155,732,026 I155T probably benign Het
Tas2r102 A G 6: 132,762,644 R172G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trav12-2 C A 14: 53,616,402 N2K probably damaging Het
Tyrp1 C T 4: 80,837,608 Q205* probably null Het
Ubr4 T A 4: 139,452,741 probably null Het
Ush2a A G 1: 188,263,391 S120G probably benign Het
Vmn2r100 T C 17: 19,521,242 probably benign Het
Zer1 G T 2: 30,104,916 T489K probably benign Het
Zfp955b G T 17: 33,302,264 G236* probably null Het
Other mutations in Atoh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Atoh1 APN 6 64729584 missense possibly damaging 0.54
R1354:Atoh1 UTSW 6 64729357 missense possibly damaging 0.53
R1674:Atoh1 UTSW 6 64729930 missense possibly damaging 0.88
R1675:Atoh1 UTSW 6 64730157 missense probably benign 0.01
R1895:Atoh1 UTSW 6 64729459 missense probably benign 0.01
R1946:Atoh1 UTSW 6 64729459 missense probably benign 0.01
R1988:Atoh1 UTSW 6 64729633 missense probably benign 0.04
R2566:Atoh1 UTSW 6 64729684 missense probably damaging 1.00
R3730:Atoh1 UTSW 6 64729573 missense probably benign 0.00
R3893:Atoh1 UTSW 6 64730133 missense probably damaging 1.00
R4241:Atoh1 UTSW 6 64729774 missense probably damaging 1.00
R7411:Atoh1 UTSW 6 64729930 missense probably damaging 1.00
R7749:Atoh1 UTSW 6 64729920 missense possibly damaging 0.89
R8196:Atoh1 UTSW 6 64730242 missense probably benign 0.00
R8289:Atoh1 UTSW 6 64729909 missense probably damaging 1.00
Posted On2015-04-16