Incidental Mutation 'R0801:Arnt'
ID |
76268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arnt
|
Ensembl Gene |
ENSMUSG00000015522 |
Gene Name |
aryl hydrocarbon receptor nuclear translocator |
Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
MMRRC Submission |
038981-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0801 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 95401157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 702
(R702L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
|
AlphaFold |
P53762 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015666
AA Change: R682L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000015666 Gene: ENSMUSG00000015522 AA Change: R682L
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: R687L
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000088313 Gene: ENSMUSG00000015522 AA Change: R687L
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: R702L
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099810 Gene: ENSMUSG00000015522 AA Change: R702L
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 |
noncoding transcript
Transcript: ENSMUST00000147094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156653
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149051
|
Meta Mutation Damage Score |
0.1218 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
Validation Efficiency |
98% (48/49) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,568 (GRCm39) |
S123G |
probably benign |
Het |
Fam13a |
G |
T |
6: 58,960,997 (GRCm39) |
N118K |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
R3hdm4 |
A |
G |
10: 79,749,191 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,517,335 (GRCm39) |
S22P |
probably benign |
Het |
Ttc39d |
A |
G |
17: 80,523,644 (GRCm39) |
Y101C |
probably damaging |
Het |
Usb1 |
T |
C |
8: 96,060,168 (GRCm39) |
|
probably null |
Het |
Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
Zfp638 |
T |
A |
6: 83,949,220 (GRCm39) |
|
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 |
|
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 |
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'- TACTCCAGACCAGTGATGCCTCTC -3'
(R):5'- AAACAGACCTGGACCATGCATTTCC -3'
Sequencing Primer
(F):5'- TGAGTATCGACTTACAGGAATGC -3'
(R):5'- CTTATAATTCGGTCAGCACATGCAG -3'
|
Posted On |
2013-10-16 |