Incidental Mutation 'IGL01634:Arnt'
ID |
93579 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01634
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 95377709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
|
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 |
noncoding transcript
Transcript: ENSMUST00000140060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156653
|
Coding Region Coverage |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034H15Rik |
A |
T |
1: 191,633,016 (GRCm39) |
|
noncoding transcript |
Het |
4933421I07Rik |
C |
T |
7: 42,097,123 (GRCm39) |
D63N |
probably benign |
Het |
Alg9 |
C |
A |
9: 50,686,677 (GRCm39) |
|
probably null |
Het |
Anln |
T |
C |
9: 22,271,771 (GRCm39) |
T695A |
probably benign |
Het |
Aox4 |
G |
T |
1: 58,261,089 (GRCm39) |
D141Y |
possibly damaging |
Het |
Arhgap21 |
C |
A |
2: 20,919,455 (GRCm39) |
Q84H |
probably benign |
Het |
Atp8a2 |
T |
A |
14: 60,235,511 (GRCm39) |
Y677F |
probably benign |
Het |
Car6 |
C |
T |
4: 150,282,610 (GRCm39) |
V12M |
probably benign |
Het |
Cd209d |
A |
T |
8: 3,927,974 (GRCm39) |
|
probably null |
Het |
Ctnna1 |
T |
A |
18: 35,356,501 (GRCm39) |
V390E |
probably damaging |
Het |
Cypt4 |
T |
A |
9: 24,536,952 (GRCm39) |
N147K |
possibly damaging |
Het |
Dnah10 |
C |
A |
5: 124,898,405 (GRCm39) |
A3729E |
probably damaging |
Het |
Dusp8 |
A |
G |
7: 141,638,160 (GRCm39) |
V156A |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,642,211 (GRCm39) |
P458L |
probably damaging |
Het |
Fat3 |
T |
G |
9: 15,909,654 (GRCm39) |
Y2116S |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,430,537 (GRCm39) |
Y236N |
probably damaging |
Het |
Gaa |
G |
A |
11: 119,164,902 (GRCm39) |
S265N |
possibly damaging |
Het |
Gas7 |
T |
C |
11: 67,565,057 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,166,438 (GRCm39) |
K297R |
probably damaging |
Het |
Gm1818 |
G |
A |
12: 48,602,992 (GRCm39) |
|
noncoding transcript |
Het |
Gm5114 |
G |
T |
7: 39,058,071 (GRCm39) |
T516K |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,850,562 (GRCm39) |
S165P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,726 (GRCm39) |
R44L |
probably damaging |
Het |
Ivd |
G |
A |
2: 118,706,863 (GRCm39) |
R285H |
probably damaging |
Het |
Krtap20-2 |
T |
C |
16: 89,002,977 (GRCm39) |
F59S |
unknown |
Het |
Megf8 |
G |
A |
7: 25,058,206 (GRCm39) |
|
probably benign |
Het |
Mgat4d |
A |
T |
8: 84,094,745 (GRCm39) |
M261L |
possibly damaging |
Het |
Mlc1 |
A |
T |
15: 88,858,921 (GRCm39) |
|
probably benign |
Het |
Mmp20 |
T |
A |
9: 7,635,149 (GRCm39) |
Y43* |
probably null |
Het |
Morc3 |
G |
A |
16: 93,670,125 (GRCm39) |
V767I |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,386,298 (GRCm39) |
T1808A |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,791,562 (GRCm39) |
F574L |
probably damaging |
Het |
Npas3 |
G |
A |
12: 53,993,946 (GRCm39) |
V164M |
probably damaging |
Het |
Nptx1 |
A |
G |
11: 119,435,498 (GRCm39) |
Y273H |
probably damaging |
Het |
Oaf |
T |
C |
9: 43,135,301 (GRCm39) |
N159S |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
Or4c111 |
T |
A |
2: 88,843,788 (GRCm39) |
I207F |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,783 (GRCm39) |
L130H |
probably damaging |
Het |
Pgm2 |
T |
C |
5: 64,258,317 (GRCm39) |
F101L |
probably benign |
Het |
Pkd1l3 |
A |
C |
8: 110,394,157 (GRCm39) |
|
probably null |
Het |
Plcd1 |
C |
T |
9: 118,902,857 (GRCm39) |
R527H |
probably damaging |
Het |
Rexo2 |
C |
T |
9: 48,380,215 (GRCm39) |
E206K |
probably damaging |
Het |
Ropn1 |
C |
A |
16: 34,487,148 (GRCm39) |
T28N |
possibly damaging |
Het |
Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
Rpgrip1l |
C |
A |
8: 91,979,171 (GRCm39) |
S998I |
probably benign |
Het |
Rpgrip1l |
T |
A |
8: 91,979,172 (GRCm39) |
S998C |
probably benign |
Het |
Scap |
T |
C |
9: 110,207,857 (GRCm39) |
|
probably null |
Het |
Sec23b |
T |
C |
2: 144,401,150 (GRCm39) |
Y4H |
probably damaging |
Het |
Sfrp4 |
C |
A |
13: 19,807,800 (GRCm39) |
D66E |
possibly damaging |
Het |
Slc25a36 |
T |
C |
9: 96,962,534 (GRCm39) |
T13A |
probably benign |
Het |
Synpr |
A |
T |
14: 13,608,576 (GRCm38) |
I119F |
possibly damaging |
Het |
Tamm41 |
A |
C |
6: 114,993,059 (GRCm39) |
H109Q |
probably benign |
Het |
Tet1 |
A |
T |
10: 62,714,367 (GRCm39) |
I476K |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,601,415 (GRCm39) |
I142F |
probably benign |
Het |
Thada |
A |
T |
17: 84,700,786 (GRCm39) |
|
probably null |
Het |
Triobp |
T |
C |
15: 78,877,568 (GRCm39) |
L1654P |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,668,738 (GRCm39) |
V726A |
probably damaging |
Het |
Txndc15 |
T |
G |
13: 55,869,438 (GRCm39) |
V197G |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,803,916 (GRCm39) |
T1169S |
probably benign |
Het |
Uhmk1 |
C |
T |
1: 170,034,682 (GRCm39) |
|
probably null |
Het |
Vmn2r16 |
T |
A |
5: 109,488,177 (GRCm39) |
M350K |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,460,857 (GRCm39) |
V728I |
probably benign |
Het |
Wipf1 |
G |
A |
2: 73,278,225 (GRCm39) |
P7S |
unknown |
Het |
Zswim3 |
A |
G |
2: 164,661,922 (GRCm39) |
D134G |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |