Incidental Mutation 'R8143:Arnt'
| ID |
647916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
067571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8143 (G1)
|
| Quality Score |
105.008 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 95377294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
|
| AlphaFold |
P53762 |
| Predicted Effect |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
C |
A |
2: 35,265,884 (GRCm39) |
C262F |
probably damaging |
Het |
| Acss1 |
T |
C |
2: 150,509,801 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,492 (GRCm39) |
V909A |
possibly damaging |
Het |
| Adprh |
G |
A |
16: 38,270,694 (GRCm39) |
T37M |
probably benign |
Het |
| Ak9 |
T |
A |
10: 41,213,588 (GRCm39) |
Y264* |
probably null |
Het |
| Aox3 |
G |
T |
1: 58,198,074 (GRCm39) |
A629S |
probably benign |
Het |
| Apcs |
G |
A |
1: 172,721,900 (GRCm39) |
P149S |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,692,065 (GRCm39) |
G15D |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,000,657 (GRCm39) |
|
probably null |
Het |
| Cacnb1 |
T |
G |
11: 97,894,146 (GRCm39) |
T459P |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,654,630 (GRCm39) |
T718A |
unknown |
Het |
| Cttn |
T |
A |
7: 144,014,999 (GRCm39) |
K70* |
probably null |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Cyp39a1 |
T |
C |
17: 44,036,517 (GRCm39) |
V349A |
probably benign |
Het |
| Ebf2 |
C |
A |
14: 67,649,386 (GRCm39) |
Y430* |
probably null |
Het |
| Eef2 |
T |
C |
10: 81,017,182 (GRCm39) |
Y730H |
probably damaging |
Het |
| Eif2ak2 |
G |
A |
17: 79,165,961 (GRCm39) |
T412I |
probably benign |
Het |
| Flnc |
G |
C |
6: 29,441,484 (GRCm39) |
R422P |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,207,682 (GRCm39) |
A2496V |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,614,088 (GRCm39) |
L71P |
probably damaging |
Het |
| Gm7579 |
C |
T |
7: 141,766,163 (GRCm39) |
Q190* |
probably null |
Het |
| H2-T3 |
T |
A |
17: 36,498,384 (GRCm39) |
R220S |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,734,957 (GRCm39) |
V185A |
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,510,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,884,255 (GRCm39) |
V981I |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,683,003 (GRCm39) |
T310A |
unknown |
Het |
| Kat5 |
A |
G |
19: 5,657,577 (GRCm39) |
|
probably null |
Het |
| Kif22 |
A |
T |
7: 126,632,397 (GRCm39) |
D304E |
probably damaging |
Het |
| Mapre3 |
A |
T |
5: 31,020,719 (GRCm39) |
N147Y |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,628,537 (GRCm39) |
V330A |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,734,525 (GRCm39) |
V709M |
possibly damaging |
Het |
| Myo3a |
T |
G |
2: 22,287,476 (GRCm39) |
|
probably null |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,670 (GRCm39) |
D103E |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,336,530 (GRCm39) |
K1062R |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,648,891 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Olig3 |
T |
G |
10: 19,232,732 (GRCm39) |
V119G |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,587 (GRCm39) |
V31A |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,922,906 (GRCm39) |
S485P |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,642,527 (GRCm39) |
F1301S |
probably damaging |
Het |
| Pank3 |
A |
G |
11: 35,667,036 (GRCm39) |
Y51C |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,658 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,824,415 (GRCm39) |
|
probably null |
Het |
| Psmd9 |
T |
G |
5: 123,366,479 (GRCm39) |
I37S |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,692,117 (GRCm39) |
S135P |
probably damaging |
Het |
| Rexo5 |
T |
A |
7: 119,433,484 (GRCm39) |
|
probably null |
Het |
| Rsrp1 |
T |
A |
4: 134,654,319 (GRCm39) |
D286E |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,169,269 (GRCm39) |
C116Y |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,096,793 (GRCm39) |
T25S |
probably benign |
Het |
| Sh3pxd2a |
G |
A |
19: 47,257,138 (GRCm39) |
P555S |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,230 (GRCm39) |
L89Q |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,983,763 (GRCm39) |
N307K |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,484 (GRCm39) |
D189E |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,287 (GRCm39) |
R392C |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,930,362 (GRCm39) |
T769A |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,772,707 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,693,677 (GRCm39) |
E397G |
possibly damaging |
Het |
| Vcl |
A |
T |
14: 21,037,112 (GRCm39) |
M237L |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,312 (GRCm39) |
D555V |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,153,625 (GRCm39) |
N229S |
probably damaging |
Het |
| Zfp784 |
A |
C |
7: 5,038,910 (GRCm39) |
V216G |
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 |
|
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 |
|
|
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'- TCCCCTTAGGAACTTAAATGAGTG -3'
(R):5'- AGAGGCTCCATTCTAGGTGG -3'
Sequencing Primer
(F):5'- TACTTTGTAGACCAGGCTGGC -3'
(R):5'- GGCTCCATTCTAGGTGGTCACATC -3'
|
| Posted On |
2020-09-10 |
Incidental Mutation