Incidental Mutation 'R6920:Arnt'
| ID |
539561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
045040-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95397932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 572
(F572L)
|
| 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: F572L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: F572L
| 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 damaging
Transcript: ENSMUST00000090804
AA Change: F577L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: F577L
| 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 damaging
Transcript: ENSMUST00000102749
AA Change: F592L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: F592L
| 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 damaging
Transcript: ENSMUST00000107161
AA Change: F577L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: F577L
| 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 |
|
| Meta Mutation Damage Score |
0.1889 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,773,811 (GRCm39) |
Y1000F |
probably damaging |
Het |
| 1700018B08Rik |
A |
G |
8: 122,262,160 (GRCm39) |
|
probably null |
Het |
| Aadat |
T |
C |
8: 60,982,467 (GRCm39) |
F245L |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,403,227 (GRCm39) |
L1575W |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,782,231 (GRCm39) |
T421S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,475,097 (GRCm39) |
I155N |
probably damaging |
Het |
| Brip1 |
G |
A |
11: 86,039,362 (GRCm39) |
Q391* |
probably null |
Het |
| Brpf3 |
C |
A |
17: 29,042,970 (GRCm39) |
H1004N |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,768,250 (GRCm39) |
V465D |
possibly damaging |
Het |
| Card10 |
G |
T |
15: 78,686,609 (GRCm39) |
Y69* |
probably null |
Het |
| Catsperd |
A |
T |
17: 56,962,175 (GRCm39) |
K450* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,351,009 (GRCm39) |
L137P |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,990,107 (GRCm39) |
S1905P |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,507,601 (GRCm39) |
G2971S |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,379,496 (GRCm39) |
Y183H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,396 (GRCm39) |
Y167H |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,310 (GRCm39) |
K214R |
unknown |
Het |
| Fam180a |
T |
G |
6: 35,290,765 (GRCm39) |
I73L |
possibly damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,168,986 (GRCm39) |
H51N |
probably benign |
Het |
| Gm12728 |
T |
G |
4: 105,647,533 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,591,620 (GRCm39) |
C335R |
possibly damaging |
Het |
| Gpx8 |
A |
G |
13: 113,179,770 (GRCm39) |
V177A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,034,444 (GRCm39) |
Y1972D |
probably null |
Het |
| Igkv6-14 |
T |
C |
6: 70,412,116 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,576,602 (GRCm39) |
|
probably null |
Het |
| Klc1 |
T |
C |
12: 111,754,019 (GRCm39) |
S105P |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,798,701 (GRCm39) |
D469G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Mboat4 |
G |
A |
8: 34,591,865 (GRCm39) |
R434H |
probably benign |
Het |
| Mttp |
T |
C |
3: 137,821,043 (GRCm39) |
K270E |
possibly damaging |
Het |
| Muc5ac |
G |
A |
7: 141,347,035 (GRCm39) |
C337Y |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,634,471 (GRCm39) |
V484A |
probably damaging |
Het |
| Noxa1 |
G |
T |
2: 24,981,844 (GRCm39) |
|
probably null |
Het |
| Or14c45 |
A |
G |
7: 86,176,522 (GRCm39) |
T186A |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,821 (GRCm39) |
L63H |
probably damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,941,584 (GRCm39) |
G36S |
probably damaging |
Het |
| P4htm |
C |
T |
9: 108,460,812 (GRCm39) |
G220D |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,199 (GRCm39) |
I69V |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,015,795 (GRCm39) |
E250K |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,604,994 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 45,008,231 (GRCm39) |
G213V |
possibly damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,441,513 (GRCm39) |
S67P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,657,680 (GRCm39) |
F193S |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,117 (GRCm39) |
Y872C |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,132,921 (GRCm39) |
N218K |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,757,021 (GRCm39) |
F1028L |
probably damaging |
Het |
| Siglec1 |
G |
A |
2: 130,919,997 (GRCm39) |
Q845* |
probably null |
Het |
| Slc38a9 |
C |
T |
13: 112,838,060 (GRCm39) |
T275I |
possibly damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,497,470 (GRCm39) |
S481T |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,169,998 (GRCm39) |
N191K |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,757 (GRCm39) |
S2258C |
probably damaging |
Het |
| Tm7sf3 |
T |
G |
6: 146,507,645 (GRCm39) |
R472S |
possibly damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,576,494 (GRCm39) |
T119M |
probably benign |
Het |
| Traip |
C |
T |
9: 107,838,240 (GRCm39) |
R142* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,626,214 (GRCm39) |
N100D |
probably damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,575 (GRCm39) |
S292P |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,108 (GRCm39) |
I641F |
probably damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,912 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,510 (GRCm39) |
N110S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,642,057 (GRCm39) |
T928A |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,121,337 (GRCm39) |
K83N |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,982 (GRCm39) |
H737R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,940,714 (GRCm39) |
N795S |
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 |
|
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'- GGCTCCTTTTACAGGCTGAG -3'
(R):5'- AAAGCAGCTTCGTTGTCTCACC -3'
Sequencing Primer
(F):5'- TCATTATTACTGATGGGACTGCC -3'
(R):5'- GTCTCACCCTAGGTCCAGTAAG -3'
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| Posted On |
2018-11-06 |
Incidental Mutation