Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Ahrr'

410753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

74359237-74440450 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74405614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 108 (Q108*)

Ref Sequence

ENSEMBL: ENSMUSP00000022059 (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: Q108*

SMART Domains

Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
AA Change: Q108*

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

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

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,738,333 (GRCm39)	L236R	probably damaging	Het
Agbl1	C	T	7: 76,069,793 (GRCm39)	Q442*	probably null	Het
Ankrd23	T	C	1: 36,570,726 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,104 (GRCm39)	I225T	probably damaging	Het
Asxl3	T	C	18: 22,656,031 (GRCm39)	V1347A	probably benign	Het
Birc6	A	G	17: 74,905,994 (GRCm39)	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,744,655 (GRCm39)	N32T	probably damaging	Het
Brip1	T	A	11: 85,952,653 (GRCm39)	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,121,532 (GRCm39)	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,182,832 (GRCm39)	M396L	probably benign	Het
Ceacam3	G	T	7: 16,892,045 (GRCm39)	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,159,200 (GRCm39)	T157A	probably benign	Het
Dennd11	A	T	6: 40,399,828 (GRCm39)		probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Dnajb1	T	C	8: 84,335,103 (GRCm39)	I48T	probably damaging	Het
Dop1b	G	A	16: 93,556,543 (GRCm39)	E349K	probably benign	Het
Fkbp10	A	T	11: 100,313,580 (GRCm39)	I285F	probably benign	Het
Frrs1	A	T	3: 116,692,836 (GRCm39)	T37S	probably damaging	Het
Gata2	A	G	6: 88,181,677 (GRCm39)	Y377C	probably damaging	Het
Gm9789	T	A	16: 88,954,883 (GRCm39)		probably benign	Het
Itpkb	T	A	1: 180,160,933 (GRCm39)	V353D	probably benign	Het
Kcng4	T	C	8: 120,352,509 (GRCm39)	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,573,845 (GRCm39)	I906N	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,208,020 (GRCm39)	L89Q	probably benign	Het
Lef1	G	T	3: 130,993,965 (GRCm39)	E314*	probably null	Het
Lpin3	T	C	2: 160,745,518 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,676 (GRCm39)	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,164,896 (GRCm39)	T628I	possibly damaging	Het
Nell1	C	T	7: 49,929,281 (GRCm39)	Q259*	probably null	Het
Neu2	G	T	1: 87,524,698 (GRCm39)	E228*	probably null	Het
Or5b119	A	T	19: 13,456,835 (GRCm39)	H242Q	probably damaging	Het
Or5k15	A	G	16: 58,709,824 (GRCm39)	F253S	probably damaging	Het
Or8g21	T	G	9: 38,906,732 (GRCm39)		probably benign	Het
Or8k20	T	C	2: 86,106,580 (GRCm39)	N84D	probably benign	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Palm	T	C	10: 79,652,617 (GRCm39)		probably benign	Het
Parp8	C	A	13: 117,047,497 (GRCm39)		probably benign	Het
Pax7	A	G	4: 139,556,798 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,423 (GRCm39)	R468W	probably damaging	Het
Pds5b	T	A	5: 150,702,722 (GRCm39)	V818D	probably damaging	Het
Piezo2	C	T	18: 63,241,147 (GRCm39)	V694I	probably damaging	Het
Plk1	A	G	7: 121,760,877 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,130,367 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Reg3b	G	A	6: 78,349,183 (GRCm39)	W103*	probably null	Het
Slc17a3	T	G	13: 24,039,962 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,071,962 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,646,839 (GRCm39)	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,259,514 (GRCm39)	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,948,811 (GRCm39)	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,201,384 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,155 (GRCm39)	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,664,457 (GRCm39)	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,567,299 (GRCm39)	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het

Other mutations in Ahrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Ahrr	APN	13	74,368,692 (GRCm39)	missense	possibly damaging	0.52
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
R1438:Ahrr	UTSW	13	74,372,987 (GRCm39)	nonsense	probably null
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

Posted On

2016-08-02