Incidental Mutation 'IGL00589:Ahr'
ID 8687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ahr
Ensembl Gene ENSMUSG00000019256
Gene Name aryl-hydrocarbon receptor
Synonyms In, bHLHe76, dioxin receptor, Ah, Ahh, Ahre
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL00589
Quality Score
Status
Chromosome 12
Chromosomal Location 35547978-35584988 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 35554096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 674 (Y674*)
Ref Sequence ENSEMBL: ENSMUSP00000112137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110811] [ENSMUST00000116436]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110811
SMART Domains Protein: ENSMUSP00000106434
Gene: ENSMUSG00000019256

DomainStartEndE-ValueType
HLH 33 87 3.31e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000116436
AA Change: Y674*
SMART Domains Protein: ENSMUSP00000112137
Gene: ENSMUSG00000019256
AA Change: Y674*

DomainStartEndE-ValueType
HLH 33 87 5.09e-7 SMART
PAS 111 177 2.72e-12 SMART
low complexity region 212 222 N/A INTRINSIC
PAS 266 336 1.77e-2 SMART
PAC 342 383 2.39e-8 SMART
low complexity region 606 640 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(2) Targeted, other(6) Other(4)

Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 A T X: 154,078,236 (GRCm39) I261L possibly damaging Het
Adcy8 A T 15: 64,659,216 (GRCm39) F525I probably damaging Het
Baz1b A G 5: 135,225,346 (GRCm39) E43G possibly damaging Het
Ccz1 T C 5: 143,949,713 (GRCm39) T72A probably damaging Het
Chd9 G A 8: 91,742,474 (GRCm39) R1629H probably damaging Het
Ell3 A T 2: 121,270,761 (GRCm39) D257E probably benign Het
Fbxw26 T C 9: 109,547,016 (GRCm39) probably benign Het
Isg20 G A 7: 78,566,332 (GRCm39) D94N probably damaging Het
Mettl13 A T 1: 162,369,960 (GRCm39) S392R probably damaging Het
Ms4a1 T A 19: 11,231,923 (GRCm39) T151S probably benign Het
Nphp1 A G 2: 127,605,769 (GRCm39) I352T probably damaging Het
Or1e1 T A 11: 73,244,869 (GRCm39) C97S probably damaging Het
Pds5a T C 5: 65,813,687 (GRCm39) D266G probably damaging Het
Rnf103 T C 6: 71,486,067 (GRCm39) Y233H probably benign Het
Rwdd4a A T 8: 47,997,219 (GRCm39) E146V probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Slc17a5 T C 9: 78,485,816 (GRCm39) I90V probably benign Het
Slc38a3 G A 9: 107,535,876 (GRCm39) L86F probably damaging Het
Tbc1d2b T C 9: 90,108,262 (GRCm39) T430A probably benign Het
Utrn C T 10: 12,554,362 (GRCm39) V1576M possibly damaging Het
Vwa8 T A 14: 79,275,635 (GRCm39) L806Q probably damaging Het
Other mutations in Ahr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Ahr APN 12 35,553,839 (GRCm39) missense probably benign 0.19
IGL01972:Ahr APN 12 35,554,448 (GRCm39) missense possibly damaging 0.89
IGL02117:Ahr APN 12 35,562,922 (GRCm39) nonsense probably null
IGL03028:Ahr APN 12 35,554,709 (GRCm39) missense probably benign
IGL03110:Ahr APN 12 35,554,970 (GRCm39) missense probably damaging 0.98
IGL03394:Ahr APN 12 35,553,751 (GRCm39) nonsense probably null
IGL03403:Ahr APN 12 35,554,325 (GRCm39) missense possibly damaging 0.63
BB002:Ahr UTSW 12 35,565,067 (GRCm39) nonsense probably null
BB012:Ahr UTSW 12 35,565,067 (GRCm39) nonsense probably null
R0620:Ahr UTSW 12 35,558,193 (GRCm39) missense probably benign 0.26
R0784:Ahr UTSW 12 35,558,141 (GRCm39) missense possibly damaging 0.79
R1133:Ahr UTSW 12 35,576,805 (GRCm39) missense probably damaging 1.00
R1168:Ahr UTSW 12 35,554,531 (GRCm39) missense possibly damaging 0.49
R4678:Ahr UTSW 12 35,557,463 (GRCm39) missense probably damaging 1.00
R5615:Ahr UTSW 12 35,553,884 (GRCm39) missense probably benign 0.01
R6066:Ahr UTSW 12 35,554,920 (GRCm39) missense probably damaging 0.99
R6466:Ahr UTSW 12 35,554,031 (GRCm39) missense probably benign 0.29
R7369:Ahr UTSW 12 35,554,659 (GRCm39) missense possibly damaging 0.94
R7382:Ahr UTSW 12 35,554,514 (GRCm39) missense probably damaging 1.00
R7685:Ahr UTSW 12 35,554,016 (GRCm39) missense probably damaging 0.96
R7819:Ahr UTSW 12 35,559,999 (GRCm39) missense probably damaging 1.00
R7897:Ahr UTSW 12 35,554,169 (GRCm39) missense possibly damaging 0.47
R7925:Ahr UTSW 12 35,565,067 (GRCm39) nonsense probably null
R8179:Ahr UTSW 12 35,560,050 (GRCm39) missense probably benign 0.01
R8274:Ahr UTSW 12 35,560,068 (GRCm39) missense probably benign
R8342:Ahr UTSW 12 35,558,271 (GRCm39) missense probably damaging 1.00
R8985:Ahr UTSW 12 35,576,736 (GRCm39) missense possibly damaging 0.91
R9069:Ahr UTSW 12 35,562,771 (GRCm39) intron probably benign
R9114:Ahr UTSW 12 35,561,164 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06