Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Ahrr'

40493

Institutional Source

Beutler Lab

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0009 (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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,919,633		probably benign	Het
Abcg4	T	G	9: 44,277,649		probably benign	Het
Afm	C	A	5: 90,545,384		probably benign	Het
Aplnr	T	A	2: 85,137,276		probably null	Het
Arih2	T	A	9: 108,611,727	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,579,835	I886N	possibly damaging	Het
Bmf	A	T	2: 118,549,622	V14E	probably damaging	Het
Ccdc116	T	C	16: 17,144,039	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,135,965	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,299,176	H45R	probably benign	Het
Chd3	A	G	11: 69,349,906	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,516,180	Q457*	probably null	Het
Coro1a	A	T	7: 126,701,413		probably benign	Het
Cracr2b	T	A	7: 141,463,759	L91Q	probably damaging	Het
Ctdspl	T	C	9: 119,020,046		probably null	Het
Dip2b	T	A	15: 100,169,312	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,621,903	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,045,522	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,769,407		probably benign	Het
Dnase1	T	C	16: 4,038,946	V147A	probably damaging	Het
Dusp8	T	C	7: 142,082,054		probably benign	Het
Fer1l6	T	C	15: 58,662,787	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 191,008,191	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209	V311A	probably benign	Het
Glud1	G	A	14: 34,334,268	G300S	probably benign	Het
Gm4847	C	T	1: 166,630,486	V433I	probably benign	Het
Gstm3	T	G	3: 107,967,840	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,862,435	P151S	probably benign	Het
Herc2	T	C	7: 56,207,812	S4048P	probably benign	Het
Hp1bp3	T	A	4: 138,221,683	I19K	probably benign	Het
Htr7	C	A	19: 36,041,540		probably benign	Het
Il1a	C	T	2: 129,309,074	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,624,458	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,379,255	C267R	possibly damaging	Het
Larp1	A	G	11: 58,055,473	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,661,405		probably benign	Het
Lep	T	A	6: 29,068,972	C7*	probably null	Het
Magi2	A	T	5: 20,611,055	Y747F	probably benign	Het
Mast4	T	C	13: 102,742,058	T1223A	probably damaging	Het
Mcc	C	T	18: 44,445,933	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,611,508	I796T	probably benign	Het
Myef2	A	T	2: 125,108,978	D312E	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo19	T	A	11: 84,888,169		probably null	Het
Naa15	T	G	3: 51,470,219	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,824,902		probably benign	Het
Plpp2	C	T	10: 79,527,244	R184H	probably benign	Het
Rab19	T	G	6: 39,389,687	L179V	probably damaging	Het
Rims2	T	A	15: 39,534,966	M1087K	probably damaging	Het
Riox2	C	A	16: 59,489,367	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,226,293	V123E	probably damaging	Het
Slc35e1	A	T	8: 72,484,709	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,763,602	E604V	probably benign	Het
Srp72	T	C	5: 76,987,885	S221P	probably damaging	Het
Tbx19	A	T	1: 165,160,520	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,685,817	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,510,712	A179V	probably damaging	Het
Tnr	G	T	1: 159,852,416	G320V	probably damaging	Het
Trappc11	A	T	8: 47,503,320	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,914,446	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,002,879	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Xpo5	T	C	17: 46,204,786		probably benign	Het
Zfp637	C	A	6: 117,845,668	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,880,731	D693E	probably damaging	Het

Other mutations in Ahrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Ahrr	APN	13	74,220,573 (GRCm38)	missense	possibly damaging	0.52
IGL03143:Ahrr	APN	13	74,257,495 (GRCm38)	nonsense	probably null
calico_jack	UTSW	13	74,222,912 (GRCm38)	missense	possibly damaging	0.51
piracy	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0010:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0010:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0040:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0079:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0082:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0164:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0165:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0167:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0310:Ahrr	UTSW	13	74,283,024 (GRCm38)	splice site	probably benign
R0344:Ahrr	UTSW	13	74,214,586 (GRCm38)	missense	probably damaging	1.00
R0948:Ahrr	UTSW	13	74,213,769 (GRCm38)	missense	probably damaging	1.00
R1192:Ahrr	UTSW	13	74,214,403 (GRCm38)	missense	probably benign	0.00
R1438:Ahrr	UTSW	13	74,224,868 (GRCm38)	nonsense	probably null
R1532:Ahrr	UTSW	13	74,213,707 (GRCm38)	missense	probably benign	0.01
R1600:Ahrr	UTSW	13	74,214,378 (GRCm38)	missense	probably benign	0.00
R2302:Ahrr	UTSW	13	74,277,661 (GRCm38)	missense	probably damaging	1.00
R3055:Ahrr	UTSW	13	74,224,887 (GRCm38)	missense	probably damaging	1.00
R4683:Ahrr	UTSW	13	74,224,766 (GRCm38)	splice site	silent
R4717:Ahrr	UTSW	13	74,215,766 (GRCm38)	missense	probably benign	0.03
R4769:Ahrr	UTSW	13	74,214,212 (GRCm38)	missense	probably damaging	1.00
R5998:Ahrr	UTSW	13	74,213,836 (GRCm38)	missense	probably damaging	0.99
R6225:Ahrr	UTSW	13	74,222,912 (GRCm38)	missense	possibly damaging	0.51
R7156:Ahrr	UTSW	13	74,229,916 (GRCm38)	missense	probably damaging	1.00
R7424:Ahrr	UTSW	13	74,257,545 (GRCm38)	nonsense	probably null
R8441:Ahrr	UTSW	13	74,214,063 (GRCm38)	missense	probably benign	0.03
R8502:Ahrr	UTSW	13	74,283,074 (GRCm38)	missense	probably damaging	1.00
R8534:Ahrr	UTSW	13	74,220,680 (GRCm38)	missense	probably damaging	1.00
Z1177:Ahrr	UTSW	13	74,224,776 (GRCm38)	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

2013-05-23