Incidental Mutation 'R9322:Arnt'
| ID |
706255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95397929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 591
(S591P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015666
AA Change: S571P
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: S571P
| 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: S576P
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: S576P
| 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: S591P
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: S591P
| 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: S576P
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: S576P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,192,331 (GRCm39) |
V727A |
probably damaging |
Het |
| Arhgef33 |
T |
A |
17: 80,677,818 (GRCm39) |
L455* |
probably null |
Het |
| Asic4 |
A |
G |
1: 75,446,462 (GRCm39) |
M335V |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,107,625 (GRCm39) |
S665P |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,333 (GRCm39) |
N148S |
probably damaging |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,503,272 (GRCm39) |
Y144F |
probably damaging |
Het |
| Ccdc9 |
T |
C |
7: 16,012,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Ciao3 |
G |
C |
17: 25,998,548 (GRCm39) |
Q217H |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,978 (GRCm39) |
Y332H |
probably damaging |
Het |
| Csrnp1 |
T |
C |
9: 119,801,853 (GRCm39) |
E402G |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,189,001 (GRCm39) |
I1455N |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,934 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Dsn1 |
C |
T |
2: 156,843,669 (GRCm39) |
V144I |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,765,199 (GRCm39) |
E2501V |
probably benign |
Het |
| Epha6 |
A |
T |
16: 60,245,118 (GRCm39) |
S360R |
probably damaging |
Het |
| Fasl |
A |
T |
1: 161,609,512 (GRCm39) |
L158Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,014 (GRCm39) |
V535E |
probably benign |
Het |
| Fmo5 |
A |
T |
3: 97,546,190 (GRCm39) |
K168* |
probably null |
Het |
| Gm5157 |
T |
G |
7: 20,919,431 (GRCm39) |
K37N |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,363,728 (GRCm39) |
I596F |
possibly damaging |
Het |
| Il23a |
T |
C |
10: 128,132,990 (GRCm39) |
E123G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,226,587 (GRCm39) |
T1386A |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,840,245 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Lhx4 |
A |
G |
1: 155,578,353 (GRCm39) |
I263T |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,747,601 (GRCm39) |
L34P |
probably damaging |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,844 (GRCm39) |
H138L |
possibly damaging |
Het |
| Nat3 |
A |
T |
8: 68,000,162 (GRCm39) |
K14* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,297,818 (GRCm39) |
I1216N |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,118 (GRCm39) |
E461G |
probably benign |
Het |
| Or11h23 |
C |
A |
14: 50,948,507 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,561 (GRCm39) |
T57A |
probably damaging |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Pdha2 |
C |
A |
3: 140,916,550 (GRCm39) |
M319I |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,227,494 (GRCm39) |
V43A |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,880 (GRCm39) |
E902V |
probably damaging |
Het |
| Psme3 |
A |
C |
11: 101,211,437 (GRCm39) |
H198P |
probably damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,003 (GRCm39) |
D219G |
possibly damaging |
Het |
| Scn1b |
C |
A |
7: 30,824,517 (GRCm39) |
W57L |
probably damaging |
Het |
| Sfrp2 |
T |
C |
3: 83,674,006 (GRCm39) |
I53T |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,439 (GRCm39) |
|
probably null |
Het |
| Slc18a3 |
A |
G |
14: 32,185,282 (GRCm39) |
I367T |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,258,246 (GRCm39) |
R499W |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,865,747 (GRCm39) |
D75G |
probably benign |
Het |
| Trim67 |
C |
A |
8: 125,549,967 (GRCm39) |
Y532* |
probably null |
Het |
| Ttc16 |
C |
T |
2: 32,664,952 (GRCm39) |
|
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,517,124 (GRCm39) |
S487T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,087 (GRCm39) |
T125A |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,498 (GRCm39) |
T660A |
possibly damaging |
Het |
| Zer1 |
A |
T |
2: 30,000,923 (GRCm39) |
V166D |
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 |
|
|
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 |
|
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'- AGCAGCTTCGTTGTCTCACC -3'
Sequencing Primer
(F):5'- TCATTATTACTGATGGGACTGCC -3'
(R):5'- GTCTCACCCTAGGTCCAGTAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation