Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Ahrr'

19133

Institutional Source

Beutler Lab

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

MMRRC Submission

038305-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74211118-74292331 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 74283024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022059] [ENSMUST00000109640]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022059

SMART Domains

Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000109640

SMART Domains

Protein: ENSMUSP00000105268
Gene: ENSMUSG00000021575

Domain	Start	End	E-Value	Type
Blast:PAS	1	46	1e-27	BLAST
PDB:4M4X\|B	1	142	2e-30	PDB
SCOP:d1jnua_	2	63	7e-3	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Ahrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Ahrr	APN	13	74220573	missense	possibly damaging	0.52
IGL03143:Ahrr	APN	13	74257495	nonsense	probably null
calico_jack	UTSW	13	74222912	missense	possibly damaging	0.51
piracy	UTSW	13	74283024	splice site	probably benign
R0009:Ahrr	UTSW	13	74283024	splice site	probably benign
R0010:Ahrr	UTSW	13	74283024	splice site	probably benign
R0040:Ahrr	UTSW	13	74283024	splice site	probably benign
R0079:Ahrr	UTSW	13	74283024	splice site	probably benign
R0082:Ahrr	UTSW	13	74283024	splice site	probably benign
R0164:Ahrr	UTSW	13	74283024	splice site	probably benign
R0165:Ahrr	UTSW	13	74283024	splice site	probably benign
R0167:Ahrr	UTSW	13	74283024	splice site	probably benign
R0310:Ahrr	UTSW	13	74283024	splice site	probably benign
R0344:Ahrr	UTSW	13	74214586	missense	probably damaging	1.00
R0948:Ahrr	UTSW	13	74213769	missense	probably damaging	1.00
R1192:Ahrr	UTSW	13	74214403	missense	probably benign	0.00
R1438:Ahrr	UTSW	13	74224868	nonsense	probably null
R1532:Ahrr	UTSW	13	74213707	missense	probably benign	0.01
R1600:Ahrr	UTSW	13	74214378	missense	probably benign	0.00
R2302:Ahrr	UTSW	13	74277661	missense	probably damaging	1.00
R3055:Ahrr	UTSW	13	74224887	missense	probably damaging	1.00
R4683:Ahrr	UTSW	13	74224766	splice site	silent
R4717:Ahrr	UTSW	13	74215766	missense	probably benign	0.03
R4769:Ahrr	UTSW	13	74214212	missense	probably damaging	1.00
R5998:Ahrr	UTSW	13	74213836	missense	probably damaging	0.99
R6225:Ahrr	UTSW	13	74222912	missense	possibly damaging	0.51
R7156:Ahrr	UTSW	13	74229916	missense	probably damaging	1.00
R7424:Ahrr	UTSW	13	74257545	nonsense	probably null
R8441:Ahrr	UTSW	13	74214063	missense	probably benign	0.03
R8502:Ahrr	UTSW	13	74283074	missense	probably damaging	1.00
R8534:Ahrr	UTSW	13	74220680	missense	probably damaging	1.00
Z1177:Ahrr	UTSW	13	74224776	missense	probably benign	0.01

Posted On

2013-03-25