Incidental Mutation 'R2302:Ahrr'
| ID |
244469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahrr
|
| Ensembl Gene |
ENSMUSG00000021575 |
| Gene Name |
aryl-hydrocarbon receptor repressor |
| Synonyms |
|
| MMRRC Submission |
040301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74359237-74440450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74425780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 72
(V72F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022059]
[ENSMUST00000109640]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022059
AA Change: V72F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022059
Gene: ENSMUSG00000021575
AA Change: V72F
| 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 |
0.6163 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
| Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
| Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
| Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
| Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
| Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
| Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
| Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
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 |
|
|
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 |
|
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'- AACACCTTATGCACATGTCTGATC -3'
(R):5'- ATGACTAAGGCCTTCTTCCCAC -3'
Sequencing Primer
(F):5'- ATGTCTGATCACAGCTGAGC -3'
(R):5'- TAAGGCCTTCTTCCCACAGGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation