Incidental Mutation 'R6376:Arnt'
| ID |
514956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
044526-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95397936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 573
(P573H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015666
AA Change: P573H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: P573H
| 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 |
possibly damaging
Transcript: ENSMUST00000090804
AA Change: P578H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: P578H
| 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 |
possibly damaging
Transcript: ENSMUST00000102749
AA Change: P593H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: P593H
| 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 |
possibly damaging
Transcript: ENSMUST00000107161
AA Change: P578H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: P578H
| 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: ENSMUST00000156653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149051
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (81/81) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
T |
9: 53,339,456 (GRCm39) |
E106D |
probably damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,718 (GRCm39) |
N333Y |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,917,309 (GRCm39) |
M1007K |
possibly damaging |
Het |
| Accsl |
T |
A |
2: 93,687,343 (GRCm39) |
I495F |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,674,182 (GRCm39) |
S373P |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,742,546 (GRCm39) |
I689T |
possibly damaging |
Het |
| Akap11 |
G |
A |
14: 78,752,336 (GRCm39) |
T179I |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,816,187 (GRCm39) |
K309R |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,859,673 (GRCm39) |
I824N |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,148,488 (GRCm39) |
C1152S |
probably damaging |
Het |
| Arhgap17 |
C |
A |
7: 122,899,727 (GRCm39) |
W409L |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,845,796 (GRCm39) |
I19V |
unknown |
Het |
| Arvcf |
G |
A |
16: 18,223,882 (GRCm39) |
G932R |
probably damaging |
Het |
| Atg4a-ps |
C |
T |
3: 103,553,044 (GRCm39) |
W99* |
probably null |
Het |
| Atp13a5 |
T |
A |
16: 29,056,004 (GRCm39) |
D1052V |
probably benign |
Het |
| Atp2b4 |
T |
C |
1: 133,642,797 (GRCm39) |
T1103A |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,335 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
| Cep170b |
A |
T |
12: 112,698,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Coq3 |
T |
G |
4: 21,900,486 (GRCm39) |
C238G |
probably benign |
Het |
| Cpa5 |
A |
T |
6: 30,614,044 (GRCm39) |
Q62L |
probably benign |
Het |
| Ctsg |
A |
T |
14: 56,339,110 (GRCm39) |
C49* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,819,489 (GRCm39) |
T2000A |
probably damaging |
Het |
| Dedd |
C |
T |
1: 171,167,790 (GRCm39) |
P155S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,997,565 (GRCm39) |
S2598P |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,433,459 (GRCm39) |
P379S |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,165,703 (GRCm39) |
S519R |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,874,660 (GRCm39) |
S1192G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,084,760 (GRCm39) |
I869T |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,112,651 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Exoc3l2 |
G |
A |
7: 19,203,635 (GRCm39) |
A76T |
possibly damaging |
Het |
| Fam89b |
T |
C |
19: 5,778,757 (GRCm39) |
Y144C |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,749,580 (GRCm39) |
E1082G |
probably damaging |
Het |
| Gtf3a |
A |
T |
5: 146,890,798 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
C |
A |
15: 102,845,524 (GRCm39) |
F79L |
possibly damaging |
Het |
| Hspb8 |
G |
T |
5: 116,547,491 (GRCm39) |
L164I |
probably damaging |
Het |
| Ina |
C |
T |
19: 47,003,564 (GRCm39) |
A124V |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,411 (GRCm39) |
I293F |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,314,449 (GRCm39) |
Y633C |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,872,949 (GRCm39) |
V1102I |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,361 (GRCm39) |
F1138Y |
probably benign |
Het |
| Large2 |
T |
A |
2: 92,200,853 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,959,966 (GRCm39) |
S177P |
probably benign |
Het |
| Lims2 |
G |
A |
18: 32,087,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,787 (GRCm39) |
T2315S |
probably benign |
Het |
| Lrrc4c |
A |
C |
2: 97,459,391 (GRCm39) |
T6P |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,626,469 (GRCm39) |
L1171S |
possibly damaging |
Het |
| Man2b2 |
A |
T |
5: 36,978,378 (GRCm39) |
M302K |
probably damaging |
Het |
| Mocos |
G |
A |
18: 24,834,542 (GRCm39) |
G860R |
possibly damaging |
Het |
| Mylk3 |
T |
A |
8: 86,085,571 (GRCm39) |
D258V |
possibly damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,201,240 (GRCm39) |
D6N |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,758,176 (GRCm39) |
N54S |
possibly damaging |
Het |
| Nt5el |
T |
C |
13: 105,256,473 (GRCm39) |
I514T |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,727,848 (GRCm39) |
F251L |
probably benign |
Het |
| Pacsin1 |
A |
T |
17: 27,926,879 (GRCm39) |
T195S |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,056,693 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,327,180 (GRCm39) |
M126L |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,505,432 (GRCm39) |
T204S |
probably benign |
Het |
| Pole |
G |
A |
5: 110,484,240 (GRCm39) |
D2175N |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,677,267 (GRCm39) |
G104E |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,749 (GRCm39) |
K2545E |
probably benign |
Het |
| Prodh |
T |
C |
16: 17,897,849 (GRCm39) |
I183V |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,684,988 (GRCm39) |
V246M |
probably damaging |
Het |
| Rubcnl |
A |
G |
14: 75,269,834 (GRCm39) |
N164S |
probably benign |
Het |
| Samd4 |
A |
T |
14: 47,290,419 (GRCm39) |
L175F |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,642 (GRCm39) |
G851D |
probably damaging |
Het |
| Scimp |
C |
A |
11: 70,688,893 (GRCm39) |
W41L |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,843 (GRCm39) |
K1634N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,030,888 (GRCm39) |
R957G |
probably benign |
Het |
| Sptlc3 |
T |
A |
2: 139,478,692 (GRCm39) |
N550K |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,094,361 (GRCm39) |
N609D |
probably null |
Het |
| Styxl1 |
A |
T |
5: 135,776,664 (GRCm39) |
L164H |
probably benign |
Het |
| Synpo2l |
A |
T |
14: 20,710,702 (GRCm39) |
D865E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,267 (GRCm39) |
M19V |
probably damaging |
Het |
| Trappc8 |
G |
C |
18: 20,970,132 (GRCm39) |
R953G |
probably benign |
Het |
| Trav13-1 |
A |
G |
14: 53,782,800 (GRCm39) |
N50S |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,955,241 (GRCm39) |
K161E |
probably benign |
Het |
| Vipr1 |
C |
A |
9: 121,493,640 (GRCm39) |
N230K |
probably damaging |
Het |
| Xirp1 |
A |
T |
9: 119,847,557 (GRCm39) |
V3E |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,892 (GRCm39) |
F82L |
probably benign |
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 |
|
R5866:Arnt
|
UTSW |
3 |
95,398,037 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AGGCTCCTTTTACAGGCTGAG -3'
(R):5'- AAGCAGCTTCGTTGTCTCACC -3'
Sequencing Primer
(F):5'- TCATTATTACTGATGGGACTGCC -3'
(R):5'- GTCTCACCCTAGGTCCAGTAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation