Incidental Mutation 'IGL00925:Atoh8'
ID27625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atoh8
Ensembl Gene ENSMUSG00000037621
Gene Nameatonal bHLH transcription factor 8
Synonyms4933425C05Rik, okadin, Math6, bHLHa21
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00925
Quality Score
Status
Chromosome6
Chromosomal Location72206177-72235577 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72234569 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000036981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042646] [ENSMUST00000206425]
Predicted Effect probably benign
Transcript: ENSMUST00000042646
AA Change: V199A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000036981
Gene: ENSMUSG00000037621
AA Change: V199A

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
low complexity region 115 138 N/A INTRINSIC
low complexity region 167 175 N/A INTRINSIC
HLH 237 289 1.21e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000206425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206553
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele appear to be developmentally arrested at or slightly after gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,931,040 Y325N probably damaging Het
Celf2 A T 2: 6,721,577 D6E probably benign Het
Cep170 T C 1: 176,793,524 D29G probably damaging Het
Cpb2 T C 14: 75,260,750 Y118H possibly damaging Het
Esf1 A G 2: 140,167,817 S200P probably benign Het
Glmn A T 5: 107,557,327 N474K probably damaging Het
Maea T C 5: 33,372,301 V377A probably benign Het
Npepps A G 11: 97,280,283 V59A probably damaging Het
Ocrl A G X: 47,947,097 E565G probably benign Het
Olfr1043 T C 2: 86,162,920 T10A probably benign Het
Pclo T C 5: 14,766,741 S4544P unknown Het
Per3 T C 4: 151,013,598 Y693C probably benign Het
Prkacb G T 3: 146,748,042 P167H probably benign Het
Ptprt A G 2: 161,656,163 S837P possibly damaging Het
Sema7a G T 9: 57,955,838 C264F probably damaging Het
Slitrk4 G T X: 64,272,051 P337T probably damaging Het
Tango6 T G 8: 106,695,445 probably benign Het
Tecta T C 9: 42,375,035 D775G probably benign Het
Tmem45a2 T A 16: 57,045,255 N189Y probably damaging Het
Ttc8 A G 12: 98,976,018 N364S probably damaging Het
Uhrf1 A G 17: 56,320,535 D697G probably benign Het
Vmn1r185 G A 7: 26,611,190 L297F probably benign Het
Vmn2r11 T C 5: 109,047,019 T814A probably benign Het
Wdr36 A G 18: 32,845,631 T198A possibly damaging Het
Zfhx2 G A 14: 55,073,061 P676L probably benign Het
Zfp451 A G 1: 33,776,261 probably benign Het
Other mutations in Atoh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02085:Atoh8 APN 6 72235173 unclassified probably benign
R2057:Atoh8 UTSW 6 72235128 missense probably damaging 0.96
R2893:Atoh8 UTSW 6 72234872 missense probably benign
R4787:Atoh8 UTSW 6 72223777 missense possibly damaging 0.88
R7529:Atoh8 UTSW 6 72223841 missense probably benign 0.24
Z1177:Atoh8 UTSW 6 72235126 missense probably damaging 1.00
Posted On2013-04-17