Incidental Mutation 'R1192:Ahrr'
| ID |
100909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahrr
|
| Ensembl Gene |
ENSMUSG00000021575 |
| Gene Name |
aryl-hydrocarbon receptor repressor |
| Synonyms |
|
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74359237-74440450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74362522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 326
(M326L)
|
| 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
AA Change: M454L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
AA Change: M454L
| 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
AA Change: M326L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105268
Gene: ENSMUSG00000021575
AA Change: M326L
| 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: ENSMUST00000148438
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
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 |
|
|
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 |
|
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'- AGTGACAATACTGGGTTGCATGGAG -3'
(R):5'- ACACTTGAGGCACCTGAACTGGAG -3'
Sequencing Primer
(F):5'- TGTAGAAAATCCCCGAGCTGTG -3'
(R):5'- CACCTGAACTGGAGCACAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation