Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Ahrr'

60671

Institutional Source

Beutler Lab

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0164 (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: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atl2	A	G	17: 80,161,260 (GRCm39)		probably benign	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,175,900 (GRCm39)		probably benign	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
BC028528	A	T	3: 95,794,646 (GRCm39)		probably benign	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,165,518 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gli2	A	G	1: 118,818,013 (GRCm39)		probably benign	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,755,646 (GRCm39)		probably benign	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Ipo11	A	G	13: 107,046,702 (GRCm39)		probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,952,799 (GRCm39)		probably benign	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
N4bp2	T	C	5: 65,960,916 (GRCm39)		probably benign	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Rnf157	A	G	11: 116,245,636 (GRCm39)		probably benign	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Skint6	A	T	4: 112,848,433 (GRCm39)		probably benign	Het
Slfn10-ps	T	C	11: 82,926,128 (GRCm39)		noncoding transcript	Het
Sspo	T	A	6: 48,471,128 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,141,634 (GRCm39)		probably benign	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tenm4	T	G	7: 96,378,547 (GRCm39)		probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ubac2	A	G	14: 122,246,329 (GRCm39)		probably benign	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,066,992 (GRCm39)	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,035,189 (GRCm39)	C176S	probably damaging	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,528,800 (GRCm39)		probably null	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Wdr43	T	G	17: 71,938,992 (GRCm39)		probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	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
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
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

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