Incidental Mutation 'R1523:Arnt'
| ID |
167611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1523 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95396965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 466
(P466L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015666
AA Change: P466L
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: P466L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HLH
|
69 |
128 |
2.9e-11 |
SMART |
|
PAS
|
143 |
210 |
7.4e-13 |
SMART |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
PAS
|
332 |
397 |
7.6e-10 |
SMART |
|
PAC
|
404 |
447 |
9.6e-7 |
SMART |
|
low complexity region
|
705 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090804
AA Change: P471L
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: P471L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HLH
|
80 |
133 |
1e-14 |
SMART |
|
PAS
|
148 |
215 |
1.51e-10 |
SMART |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
PAS
|
337 |
402 |
1.55e-7 |
SMART |
|
PAC
|
409 |
452 |
1.95e-4 |
SMART |
|
low complexity region
|
710 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102749
AA Change: P486L
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: P486L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HLH
|
95 |
148 |
1e-14 |
SMART |
|
PAS
|
163 |
230 |
1.51e-10 |
SMART |
|
low complexity region
|
251 |
262 |
N/A |
INTRINSIC |
|
PAS
|
352 |
417 |
1.55e-7 |
SMART |
|
PAC
|
424 |
467 |
1.95e-4 |
SMART |
|
low complexity region
|
725 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107161
AA Change: P471L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: P471L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
HLH
|
80 |
133 |
1e-14 |
SMART |
|
PAS
|
148 |
215 |
1.51e-10 |
SMART |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
PAS
|
337 |
402 |
1.55e-7 |
SMART |
|
PAC
|
409 |
452 |
1.95e-4 |
SMART |
|
low complexity region
|
694 |
707 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136413
|
| SMART Domains |
Protein: ENSMUSP00000116688
Gene: ENSMUSG00000015522
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
Blast:PAS
|
97 |
126 |
7e-8 |
BLAST |
|
PDB:2B02|A
|
97 |
126 |
5e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156653
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of aryl hydrocarbon receptor and hypoxia-inducible factor 1 alpha gene induction, defective angiogenesis of the yolk sac and branchial arches, placental defects, and lethality by embryonic day 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
| 4930503B20Rik |
A |
G |
3: 146,356,864 (GRCm39) |
S15P |
probably damaging |
Het |
| 5530400C23Rik |
A |
G |
6: 133,271,256 (GRCm39) |
E100G |
possibly damaging |
Het |
| Abcg2 |
T |
C |
6: 58,662,679 (GRCm39) |
F507S |
possibly damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,761,044 (GRCm39) |
Q913L |
probably benign |
Het |
| Ak7 |
A |
T |
12: 105,732,867 (GRCm39) |
N537I |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,270,629 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
T |
A |
9: 32,168,048 (GRCm39) |
V677D |
probably damaging |
Het |
| Ark2c |
G |
A |
18: 77,550,634 (GRCm39) |
T98I |
probably benign |
Het |
| Arrb1 |
T |
G |
7: 99,243,872 (GRCm39) |
L274R |
probably damaging |
Het |
| Atf2 |
A |
T |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,798,981 (GRCm39) |
R381Q |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,333,555 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,064,501 (GRCm39) |
R343Q |
probably damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,777,405 (GRCm39) |
S822* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,568,278 (GRCm39) |
Y1649N |
probably benign |
Het |
| Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,043,229 (GRCm39) |
Y1006H |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,160,735 (GRCm39) |
T101A |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,426,951 (GRCm39) |
F170L |
probably benign |
Het |
| Dock1 |
A |
C |
7: 134,345,976 (GRCm39) |
I173L |
possibly damaging |
Het |
| Dock4 |
A |
G |
12: 40,743,024 (GRCm39) |
D393G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,455,374 (GRCm39) |
S113T |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,431,311 (GRCm39) |
D530G |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,435,411 (GRCm39) |
H162L |
possibly damaging |
Het |
| Fam131c |
C |
T |
4: 141,110,142 (GRCm39) |
T180I |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,992,041 (GRCm39) |
S552P |
unknown |
Het |
| Foxf1 |
A |
G |
8: 121,811,297 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,562,828 (GRCm39) |
T560A |
possibly damaging |
Het |
| Gabra4 |
G |
A |
5: 71,790,975 (GRCm39) |
T289M |
probably damaging |
Het |
| Gcnt1 |
A |
G |
19: 17,307,197 (GRCm39) |
V176A |
probably damaging |
Het |
| Gemin8 |
G |
A |
X: 164,963,644 (GRCm39) |
S100N |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,974,567 (GRCm39) |
I460T |
probably damaging |
Het |
| Gm6729 |
A |
G |
10: 86,376,039 (GRCm39) |
|
noncoding transcript |
Het |
| Gprin2 |
T |
C |
14: 33,917,036 (GRCm39) |
S245G |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,675,479 (GRCm39) |
I112N |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,252,848 (GRCm39) |
D30G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,259,903 (GRCm39) |
D2625G |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Irf2 |
T |
A |
8: 47,290,875 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,926,226 (GRCm39) |
|
probably null |
Het |
| Khdc3 |
G |
A |
9: 73,010,773 (GRCm39) |
E208K |
possibly damaging |
Het |
| Kifc1 |
A |
T |
17: 34,102,636 (GRCm39) |
S263T |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
| Magec2 |
T |
A |
X: 61,334,512 (GRCm39) |
D177E |
probably benign |
Het |
| Mapkapk3 |
A |
T |
9: 107,140,822 (GRCm39) |
|
probably null |
Het |
| Mertk |
T |
C |
2: 128,632,248 (GRCm39) |
|
probably null |
Het |
| Metrn |
A |
G |
17: 26,013,951 (GRCm39) |
*292R |
probably null |
Het |
| Mllt6 |
G |
T |
11: 97,555,849 (GRCm39) |
A60S |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,280,774 (GRCm39) |
I65M |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,099,929 (GRCm39) |
L1651P |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,284,103 (GRCm39) |
S15G |
probably benign |
Het |
| Nos1ap |
T |
C |
1: 170,165,687 (GRCm39) |
D192G |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,619,032 (GRCm39) |
T844A |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,444,840 (GRCm39) |
L203P |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,912,212 (GRCm39) |
I280T |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,838,420 (GRCm39) |
Y4681C |
unknown |
Het |
| Phyhip |
T |
A |
14: 70,699,200 (GRCm39) |
M1K |
probably null |
Het |
| Plppr4 |
T |
C |
3: 117,116,490 (GRCm39) |
N456D |
probably damaging |
Het |
| Prpf31 |
T |
C |
7: 3,643,856 (GRCm39) |
Y473H |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,000,056 (GRCm39) |
V564D |
probably damaging |
Het |
| Rexo1 |
T |
C |
10: 80,378,585 (GRCm39) |
S1123G |
probably benign |
Het |
| Rnasel |
C |
A |
1: 153,631,759 (GRCm39) |
Q513K |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,332,714 (GRCm39) |
V2641A |
probably damaging |
Het |
| Rnf40 |
G |
T |
7: 127,189,787 (GRCm39) |
R184L |
probably damaging |
Het |
| Rnf8 |
A |
G |
17: 29,845,946 (GRCm39) |
K179R |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,174,352 (GRCm39) |
D1309N |
possibly damaging |
Het |
| Slc25a38 |
T |
A |
9: 119,952,769 (GRCm39) |
M307K |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,833,466 (GRCm39) |
D201G |
possibly damaging |
Het |
| Sulf1 |
T |
A |
1: 12,887,574 (GRCm39) |
Y249* |
probably null |
Het |
| Sult2a4 |
G |
A |
7: 13,643,785 (GRCm39) |
Q261* |
probably null |
Het |
| Syndig1 |
G |
A |
2: 149,845,154 (GRCm39) |
A226T |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,601,385 (GRCm39) |
W891* |
probably null |
Het |
| Tcf15 |
C |
A |
2: 151,985,808 (GRCm39) |
T88K |
probably damaging |
Het |
| Tmem19 |
A |
T |
10: 115,183,122 (GRCm39) |
M117K |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,241 (GRCm39) |
L266P |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,707 (GRCm39) |
I266V |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,486 (GRCm39) |
Y491N |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,782,744 (GRCm39) |
E486K |
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,501 (GRCm39) |
E262G |
probably damaging |
Het |
| Zfp598 |
A |
G |
17: 24,897,603 (GRCm39) |
D308G |
probably null |
Het |
| Zup1 |
T |
C |
10: 33,803,436 (GRCm39) |
I549M |
probably damaging |
Het |
|
| Other mutations in Arnt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Arnt
|
APN |
3 |
95,397,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00949:Arnt
|
APN |
3 |
95,394,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01304:Arnt
|
APN |
3 |
95,355,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01634:Arnt
|
APN |
3 |
95,377,709 (GRCm39) |
splice site |
probably benign |
|
|
IGL01685:Arnt
|
APN |
3 |
95,381,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01768:Arnt
|
APN |
3 |
95,398,327 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02738:Arnt
|
APN |
3 |
95,402,631 (GRCm39) |
splice site |
probably null |
|
|
IGL02941:Arnt
|
APN |
3 |
95,367,681 (GRCm39) |
splice site |
probably benign |
|
|
R0211:Arnt
|
UTSW |
3 |
95,383,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Arnt
|
UTSW |
3 |
95,383,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Arnt
|
UTSW |
3 |
95,377,705 (GRCm39) |
splice site |
probably benign |
|
|
R0801:Arnt
|
UTSW |
3 |
95,401,157 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1418:Arnt
|
UTSW |
3 |
95,377,710 (GRCm39) |
splice site |
probably benign |
|
|
R1956:Arnt
|
UTSW |
3 |
95,355,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1957:Arnt
|
UTSW |
3 |
95,355,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1958:Arnt
|
UTSW |
3 |
95,355,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1969:Arnt
|
UTSW |
3 |
95,355,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1970:Arnt
|
UTSW |
3 |
95,355,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1971:Arnt
|
UTSW |
3 |
95,355,704 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3743:Arnt
|
UTSW |
3 |
95,382,016 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4561:Arnt
|
UTSW |
3 |
95,359,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4780:Arnt
|
UTSW |
3 |
95,395,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Arnt
|
UTSW |
3 |
95,397,224 (GRCm39) |
splice site |
probably null |
|
|
R4913:Arnt
|
UTSW |
3 |
95,397,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Arnt
|
UTSW |
3 |
95,377,648 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5572:Arnt
|
UTSW |
3 |
95,382,015 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5866:Arnt
|
UTSW |
3 |
95,398,037 (GRCm39) |
unclassified |
probably benign |
|
|
R6376:Arnt
|
UTSW |
3 |
95,397,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6491:Arnt
|
UTSW |
3 |
95,383,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6873:Arnt
|
UTSW |
3 |
95,381,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Arnt
|
UTSW |
3 |
95,397,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7485:Arnt
|
UTSW |
3 |
95,402,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Arnt
|
UTSW |
3 |
95,391,086 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7786:Arnt
|
UTSW |
3 |
95,392,267 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7797:Arnt
|
UTSW |
3 |
95,387,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7947:Arnt
|
UTSW |
3 |
95,381,837 (GRCm39) |
splice site |
probably null |
|
|
R8143:Arnt
|
UTSW |
3 |
95,377,294 (GRCm39) |
splice site |
probably null |
|
|
R8446:Arnt
|
UTSW |
3 |
95,382,014 (GRCm39) |
frame shift |
probably null |
|
|
R8701:Arnt
|
UTSW |
3 |
95,401,076 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8859:Arnt
|
UTSW |
3 |
95,397,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9096:Arnt
|
UTSW |
3 |
95,397,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9097:Arnt
|
UTSW |
3 |
95,397,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9244:Arnt
|
UTSW |
3 |
95,397,879 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9322:Arnt
|
UTSW |
3 |
95,397,929 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9386:Arnt
|
UTSW |
3 |
95,395,687 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9481:Arnt
|
UTSW |
3 |
95,391,092 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9542:Arnt
|
UTSW |
3 |
95,397,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0020:Arnt
|
UTSW |
3 |
95,401,876 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0026:Arnt
|
UTSW |
3 |
95,381,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTGTGCTCAGCCAACTT -3'
(R):5'- GCCTATACGTCAAACATCAGTGTGGAAA -3'
Sequencing Primer
(F):5'- agagacagagacacagagagag -3'
(R):5'- CATCAGTGTGGAAAGCGATAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation