Incidental Mutation 'R1438:Ahrr'
ID 160804
Institutional Source Beutler Lab
Gene Symbol Ahrr
Ensembl Gene ENSMUSG00000021575
Gene Name aryl-hydrocarbon receptor repressor
Synonyms
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 74359237-74440450 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 74372987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 26 (Y26*)
Ref Sequence ENSEMBL: ENSMUSP00000105268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022059] [ENSMUST00000109640]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000022059
AA Change: Y154*
SMART Domains Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
AA Change: Y154*

DomainStartEndE-ValueType
HLH 32 86 1.1e-11 SMART
PAS 108 174 6.6e-14 SMART
low complexity region 236 250 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109640
AA Change: Y26*
SMART Domains Protein: ENSMUSP00000105268
Gene: ENSMUSG00000021575
AA Change: Y26*

DomainStartEndE-ValueType
Blast:PAS 1 46 1e-27 BLAST
PDB:4M4X|B 1 142 2e-30 PDB
SCOP:d1jnua_ 2 63 7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222649
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: This gene encodes a protein that represses aryl hydrocarbon receptor-dependent signaling. The encoded protein competes with the aryl hydrocarbon receptor transcription factor for heterodimerization with the aryl hydrocarbon receptor nuclear translocator protein and binding to xenobiotic response element (XRE) sequence in many genes. This protein is implicated in the regulation of cell growth and differentiation as well as mediating dioxin toxicity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to chemically induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging Het
Other mutations in Ahrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Ahrr APN 13 74,368,692 (GRCm39) missense possibly damaging 0.52
IGL03143:Ahrr APN 13 74,405,614 (GRCm39) nonsense probably null
calico_jack UTSW 13 74,371,031 (GRCm39) missense possibly damaging 0.51
piracy UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0009:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0010:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0010:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0040:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0079:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0082:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0164:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0165:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0167:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0310:Ahrr UTSW 13 74,431,143 (GRCm39) splice site probably benign
R0344:Ahrr UTSW 13 74,362,705 (GRCm39) missense probably damaging 1.00
R0948:Ahrr UTSW 13 74,361,888 (GRCm39) missense probably damaging 1.00
R1192:Ahrr UTSW 13 74,362,522 (GRCm39) missense probably benign 0.00
R1532:Ahrr UTSW 13 74,361,826 (GRCm39) missense probably benign 0.01
R1600:Ahrr UTSW 13 74,362,497 (GRCm39) missense probably benign 0.00
R2302:Ahrr UTSW 13 74,425,780 (GRCm39) missense probably damaging 1.00
R3055:Ahrr UTSW 13 74,373,006 (GRCm39) missense probably damaging 1.00
R4683:Ahrr UTSW 13 74,372,885 (GRCm39) splice site silent
R4717:Ahrr UTSW 13 74,363,885 (GRCm39) missense probably benign 0.03
R4769:Ahrr UTSW 13 74,362,331 (GRCm39) missense probably damaging 1.00
R5998:Ahrr UTSW 13 74,361,955 (GRCm39) missense probably damaging 0.99
R6225:Ahrr UTSW 13 74,371,031 (GRCm39) missense possibly damaging 0.51
R7156:Ahrr UTSW 13 74,378,035 (GRCm39) missense probably damaging 1.00
R7424:Ahrr UTSW 13 74,405,664 (GRCm39) nonsense probably null
R8441:Ahrr UTSW 13 74,362,182 (GRCm39) missense probably benign 0.03
R8502:Ahrr UTSW 13 74,431,193 (GRCm39) missense probably damaging 1.00
R8534:Ahrr UTSW 13 74,368,799 (GRCm39) missense probably damaging 1.00
Z1177:Ahrr UTSW 13 74,372,895 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AACACGGTGACTTAAAGGCTCTCAG -3'
(R):5'- AATGAACATGCCCAGGGGTGAC -3'

Sequencing Primer
(F):5'- TTAAAGGCTCTCAGTAGCCATACG -3'
(R):5'- CATCCTTCCAGGAGAGCTGTTG -3'
Posted On 2014-03-14