Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Ahrr'

60681

Institutional Source

Beutler Lab

Gene Symbol

Ahrr

Ensembl Gene

ENSMUSG00000021575

Gene Name

aryl-hydrocarbon receptor repressor

Synonyms

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0165 (G1)

Quality Score

204

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: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382 (GRCm38)	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150 (GRCm38)	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786 (GRCm38)	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184 (GRCm38)		probably benign	Het
Abca15	T	A	7: 120,350,903 (GRCm38)		probably benign	Het
Abca6	A	G	11: 110,219,604 (GRCm38)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863 (GRCm38)		probably benign	Het
Agap3	A	G	5: 24,479,745 (GRCm38)	T544A	probably damaging	Het
Akr1c20	T	C	13: 4,523,296 (GRCm38)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484 (GRCm38)	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127 (GRCm38)		probably null	Het
Brd1	T	C	15: 88,729,777 (GRCm38)	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469 (GRCm38)	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410 (GRCm38)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280 (GRCm38)	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593 (GRCm38)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988 (GRCm38)		probably benign	Het
Ddhd1	G	A	14: 45,595,592 (GRCm38)	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323 (GRCm38)	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646 (GRCm38)		probably benign	Het
Epha2	T	C	4: 141,321,892 (GRCm38)		probably null	Het
Ern2	T	C	7: 122,179,779 (GRCm38)	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703 (GRCm38)	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948 (GRCm38)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499 (GRCm38)		probably null	Het
Gm7535	T	C	17: 17,911,175 (GRCm38)		probably benign	Het
Gmps	T	A	3: 63,993,954 (GRCm38)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527 (GRCm38)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366 (GRCm38)		probably benign	Het
Lama3	A	T	18: 12,524,810 (GRCm38)	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697 (GRCm38)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519 (GRCm38)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315 (GRCm38)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519 (GRCm38)		probably benign	Het
Meiob	A	G	17: 24,835,161 (GRCm38)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123 (GRCm38)	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843 (GRCm38)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748 (GRCm38)		probably null	Het
Olfr486	T	C	7: 108,172,675 (GRCm38)	D23G	probably benign	Het
Otog	G	A	7: 46,304,231 (GRCm38)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925 (GRCm38)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514 (GRCm38)		probably benign	Het
Prune2	T	A	19: 17,122,610 (GRCm38)	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963 (GRCm38)	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317 (GRCm38)	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055 (GRCm38)	E7D	probably benign	Het
Rala	A	T	13: 17,888,589 (GRCm38)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487 (GRCm38)		probably benign	Het
Rbl2	T	A	8: 91,074,176 (GRCm38)	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227 (GRCm38)	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949 (GRCm38)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,409,809 (GRCm38)	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872 (GRCm38)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514 (GRCm38)	L180*	probably null	Het
Stat6	T	C	10: 127,657,227 (GRCm38)	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374 (GRCm38)	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096 (GRCm38)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202 (GRCm38)		probably null	Het
Tcf3	C	T	10: 80,412,997 (GRCm38)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087 (GRCm38)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139 (GRCm38)		probably benign	Het
Tmprss11c	A	T	5: 86,231,927 (GRCm38)		probably benign	Het
Tnfsf18	A	G	1: 161,494,731 (GRCm38)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670 (GRCm38)		probably null	Het
Trpm7	A	T	2: 126,797,513 (GRCm38)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938 (GRCm38)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342 (GRCm38)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153 (GRCm38)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973 (GRCm38)		probably benign	Het
Wdhd1	A	G	14: 47,267,068 (GRCm38)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404 (GRCm38)	S560P	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
R0009:Ahrr	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
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

2013-07-24