Mutagenetix > Incidental Mutation

Incidental Mutation 'R0167:Ahrr'

60695

Institutional Source

Beutler Lab

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

MMRRC Submission

038443-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74359237-74440450 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 74431143 bp (GRCm39)

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: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (58/61)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,806,969 (GRCm39)	F431L	probably damaging	Het
Bltp3a	C	T	17: 28,099,176 (GRCm39)	T246M	possibly damaging	Het
Bsn	T	C	9: 108,003,185 (GRCm39)	T407A	probably benign	Het
Ccdc96	T	C	5: 36,642,497 (GRCm39)	F168L	probably benign	Het
Cckar	A	T	5: 53,863,795 (GRCm39)	S55R	probably damaging	Het
Cdh5	A	C	8: 104,863,367 (GRCm39)	I426L	possibly damaging	Het
Clcn1	T	C	6: 42,263,770 (GRCm39)	Y24H	probably damaging	Het
Clpx	G	A	9: 65,224,019 (GRCm39)	R271K	possibly damaging	Het
Col6a3	C	T	1: 90,725,895 (GRCm39)	G1978D	probably damaging	Het
Cpne2	T	C	8: 95,295,207 (GRCm39)		probably benign	Het
D630023F18Rik	A	G	1: 65,156,340 (GRCm39)	V51A	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dlk2	C	A	17: 46,613,530 (GRCm39)	R262S	possibly damaging	Het
Dubr	G	T	16: 50,553,007 (GRCm39)		noncoding transcript	Het
Elane	T	A	10: 79,722,933 (GRCm39)		probably null	Het
Eya2	T	G	2: 165,558,032 (GRCm39)	S209R	possibly damaging	Het
Fam171a1	C	T	2: 3,187,469 (GRCm39)	S112L	probably damaging	Het
Fsip2	T	A	2: 82,811,151 (GRCm39)	M2490K	possibly damaging	Het
Galnt14	T	C	17: 73,829,715 (GRCm39)	T277A	probably damaging	Het
Golga1	T	C	2: 38,937,660 (GRCm39)	N128S	probably benign	Het
H1f6	T	C	13: 23,879,886 (GRCm39)	V13A	probably benign	Het
Hdac2	T	C	10: 36,876,368 (GRCm39)	V461A	probably benign	Het
Hey2	A	G	10: 30,716,661 (GRCm39)	V34A	probably benign	Het
Ift22	T	C	5: 136,940,745 (GRCm39)	C137R	probably benign	Het
Lrp2	T	C	2: 69,256,002 (GRCm39)	D4657G	possibly damaging	Het
Lrrn3	T	A	12: 41,504,014 (GRCm39)	Q101L	probably damaging	Het
Med25	A	G	7: 44,532,521 (GRCm39)		probably null	Het
Mup5	T	A	4: 61,752,019 (GRCm39)		probably null	Het
Or51aa5	A	T	7: 103,166,708 (GRCm39)	Y294*	probably null	Het
Or5ac23	A	T	16: 59,149,337 (GRCm39)	C178*	probably null	Het
Or9q2	T	C	19: 13,772,931 (GRCm39)	T15A	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parg	T	C	14: 31,939,693 (GRCm39)		probably null	Het
Prep	A	G	10: 45,034,326 (GRCm39)		probably null	Het
Prss1l	T	A	6: 41,373,195 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,385,055 (GRCm39)		probably null	Het
Rbbp8	T	A	18: 11,793,979 (GRCm39)	Y30*	probably null	Het
Rhbdd1	T	C	1: 82,320,505 (GRCm39)	V163A	probably benign	Het
Setd2	T	A	9: 110,402,850 (GRCm39)	N1830K	probably damaging	Het
Shc4	T	G	2: 125,564,933 (GRCm39)	N122T	probably benign	Het
Shroom3	T	C	5: 93,096,254 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,289,469 (GRCm39)	L261Q	probably damaging	Het
St8sia1	A	G	6: 142,859,907 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,887,787 (GRCm39)		probably benign	Het
Tpp2	T	C	1: 44,009,648 (GRCm39)	V494A	probably benign	Het
Trdmt1	A	T	2: 13,520,829 (GRCm39)	F358I	probably damaging	Het
Ttn	T	A	2: 76,719,867 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,209,278 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zfp804a	T	G	2: 82,086,860 (GRCm39)	F230V	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCACTTTCCACAGACAGAATGAC -3'
(R):5'- TGAGGGCCAATGGATCGTACTGAC -3'

Sequencing Primer
(F):5'- CCACAGACAGAATGACTTATTGCTG -3'
(R):5'- AATGGATCGTACTGACCTTCTTG -3'

Posted On

2013-07-24