Incidental Mutation 'R5866:Arnt'
| ID |
454162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
044075-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5866 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 95398037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015666
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.7%
|
| Validation Efficiency |
91% (51/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,096,814 (GRCm39) |
|
probably benign |
Het |
| A530084C06Rik |
G |
A |
13: 31,743,178 (GRCm39) |
A25V |
unknown |
Het |
| A730018C14Rik |
T |
C |
12: 112,381,472 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
G |
T |
5: 77,024,058 (GRCm39) |
A198E |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,607,101 (GRCm39) |
A328V |
probably damaging |
Het |
| Ace3 |
C |
A |
11: 105,888,330 (GRCm39) |
H347N |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,355,569 (GRCm39) |
M302K |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,747 (GRCm39) |
V13M |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,678,177 (GRCm39) |
V131E |
possibly damaging |
Het |
| Atl1 |
T |
C |
12: 69,972,785 (GRCm39) |
V35A |
probably damaging |
Het |
| BC061237 |
A |
T |
14: 44,738,730 (GRCm39) |
D43V |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,005,384 (GRCm39) |
T582A |
unknown |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,887 (GRCm39) |
S7P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,393,774 (GRCm39) |
Y70C |
probably damaging |
Het |
| Defb34 |
T |
C |
8: 19,176,468 (GRCm39) |
L53P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,518,567 (GRCm39) |
T525A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,030,129 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,621,750 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
A |
G |
18: 56,607,108 (GRCm39) |
D74G |
possibly damaging |
Het |
| Hax1 |
A |
G |
3: 89,903,035 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,263,804 (GRCm39) |
I767T |
probably benign |
Het |
| Ldah |
G |
A |
12: 8,270,614 (GRCm39) |
V5I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,460,560 (GRCm39) |
V1758A |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,033,967 (GRCm39) |
D363G |
probably damaging |
Het |
| Or14j6 |
C |
T |
17: 38,214,700 (GRCm39) |
R88* |
probably null |
Het |
| Pdlim7 |
T |
A |
13: 55,646,501 (GRCm39) |
D445V |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Pigb |
C |
T |
9: 72,936,966 (GRCm39) |
A215T |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,935 (GRCm39) |
S2952C |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,051,775 (GRCm39) |
D148G |
probably damaging |
Het |
| Ppp1r36 |
T |
C |
12: 76,473,579 (GRCm39) |
F70S |
possibly damaging |
Het |
| Rad52 |
G |
A |
6: 119,889,907 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
A |
9: 96,427,823 (GRCm39) |
T681S |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,724 (GRCm39) |
Y436* |
probably null |
Het |
| Sec16a |
G |
A |
2: 26,309,650 (GRCm39) |
P2119S |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,262 (GRCm39) |
T733K |
probably benign |
Het |
| Sf3b3 |
C |
T |
8: 111,541,266 (GRCm39) |
A950T |
probably benign |
Het |
| Slc24a5 |
T |
A |
2: 124,927,591 (GRCm39) |
F297I |
probably damaging |
Het |
| Spp2 |
A |
T |
1: 88,340,025 (GRCm39) |
D122V |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,225,906 (GRCm39) |
K60R |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,178,423 (GRCm39) |
K286E |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,505,568 (GRCm39) |
T129A |
probably benign |
Het |
| Tagap |
C |
T |
17: 8,152,285 (GRCm39) |
T490I |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,637,715 (GRCm39) |
E177G |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,174,150 (GRCm39) |
L841Q |
probably damaging |
Het |
| Tmem59 |
T |
A |
4: 107,047,754 (GRCm39) |
M71K |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,406 (GRCm39) |
T206I |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,608,421 (GRCm39) |
H1539Y |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,657,387 (GRCm39) |
N1794S |
probably benign |
Het |
| Vsig10 |
A |
T |
5: 117,490,814 (GRCm39) |
|
probably null |
Het |
| Zfp97 |
T |
A |
17: 17,365,087 (GRCm39) |
F195L |
possibly 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 |
|
|
R1523:Arnt
|
UTSW |
3 |
95,396,965 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
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'- AGTAAAGGCATCTCCTCCAGC -3'
(R):5'- AAGGACACATTCTATCCCTAGATTCC -3'
Sequencing Primer
(F):5'- AGCACTGTCCCTGCCAC -3'
(R):5'- CTGATTTCTTGGAGTTAAGGAAAACC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation