Incidental Mutation 'R4827:Arnt'
| ID |
372484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
042443-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4827 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2602 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 95397224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015666
AA Change: M493K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: M493K
| 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: M498K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: M498K
| 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: M513K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: M513K
| 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: M498K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: M498K
| 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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156653
|
| Meta Mutation Damage Score |
0.0834 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,413,489 (GRCm39) |
R274G |
probably benign |
Het |
| Agbl5 |
T |
G |
5: 31,053,158 (GRCm39) |
S83R |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,751,907 (GRCm39) |
I711T |
probably damaging |
Het |
| Atad2 |
C |
G |
15: 57,971,744 (GRCm39) |
V702L |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,648,392 (GRCm39) |
E636G |
probably benign |
Het |
| Btbd2 |
A |
G |
10: 80,482,223 (GRCm39) |
I244T |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,182,290 (GRCm39) |
N531K |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,813,527 (GRCm39) |
M266K |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,737,937 (GRCm39) |
|
probably benign |
Het |
| Coq8a |
A |
G |
1: 179,994,903 (GRCm39) |
V590A |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,267 (GRCm39) |
Y504C |
probably damaging |
Het |
| Elovl4 |
T |
C |
9: 83,688,091 (GRCm39) |
M1V |
probably null |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fads2 |
A |
G |
19: 10,059,958 (GRCm39) |
F239L |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,121,953 (GRCm39) |
|
probably null |
Het |
| Ggact |
C |
T |
14: 123,128,987 (GRCm39) |
R76H |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3739 |
A |
T |
14: 18,506,218 (GRCm39) |
F13I |
probably damaging |
Het |
| Gng2 |
T |
C |
14: 19,925,898 (GRCm39) |
K65E |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,038,245 (GRCm39) |
Y94H |
possibly damaging |
Het |
| Gzme |
C |
A |
14: 56,356,755 (GRCm39) |
R69M |
probably null |
Het |
| Hdc |
G |
A |
2: 126,436,233 (GRCm39) |
P546L |
probably benign |
Het |
| Ibtk |
C |
A |
9: 85,610,607 (GRCm39) |
V326F |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,637,643 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,546,564 (GRCm39) |
C1006S |
probably benign |
Het |
| Kcnk18 |
A |
T |
19: 59,208,362 (GRCm39) |
N66I |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,190 (GRCm39) |
N50K |
probably damaging |
Het |
| Lrba |
G |
T |
3: 86,267,457 (GRCm39) |
D1716Y |
possibly damaging |
Het |
| Ltf |
T |
A |
9: 110,856,445 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,160 (GRCm39) |
T794A |
possibly damaging |
Het |
| Mcm8 |
A |
G |
2: 132,665,174 (GRCm39) |
T217A |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,996,713 (GRCm39) |
E141G |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,278,880 (GRCm39) |
T324A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msl2 |
T |
G |
9: 100,979,350 (GRCm39) |
F575V |
probably benign |
Het |
| Ncoa4-ps |
C |
T |
12: 119,225,529 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp2 |
A |
T |
7: 5,331,950 (GRCm39) |
W149R |
possibly damaging |
Het |
| Ntng1 |
C |
A |
3: 110,042,727 (GRCm39) |
C33F |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,152,418 (GRCm39) |
Y359H |
probably benign |
Het |
| Olfml2a |
A |
C |
2: 38,850,033 (GRCm39) |
D583A |
probably damaging |
Het |
| Or12j5 |
A |
C |
7: 140,083,583 (GRCm39) |
L263R |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,547 (GRCm39) |
Y120* |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,422 (GRCm39) |
I130T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,547 (GRCm39) |
I124N |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,752 (GRCm39) |
S245T |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,251 (GRCm39) |
S145P |
probably damaging |
Het |
| Pcsk2 |
A |
T |
2: 143,643,099 (GRCm39) |
K459* |
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,075,570 (GRCm39) |
F653S |
probably damaging |
Het |
| Plpp3 |
T |
C |
4: 105,088,167 (GRCm39) |
I296T |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,490,398 (GRCm39) |
E846G |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,419,708 (GRCm39) |
N157Y |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,222 (GRCm39) |
L1815P |
probably damaging |
Het |
| Sap18 |
A |
G |
14: 58,036,020 (GRCm39) |
N69D |
probably damaging |
Het |
| Sncg |
C |
A |
14: 34,095,284 (GRCm39) |
V74F |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,724,923 (GRCm39) |
K86E |
possibly damaging |
Het |
| Spmip4 |
A |
C |
6: 50,572,836 (GRCm39) |
S26A |
possibly damaging |
Het |
| Tmem186 |
A |
T |
16: 8,453,681 (GRCm39) |
Y193* |
probably null |
Het |
| Trrap |
A |
G |
5: 144,737,758 (GRCm39) |
S1045G |
probably benign |
Het |
| Tti2 |
T |
G |
8: 31,640,998 (GRCm39) |
S41A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,838,568 (GRCm39) |
E761G |
probably damaging |
Het |
| Vamp2 |
T |
A |
11: 68,980,637 (GRCm39) |
D68E |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,265 (GRCm39) |
M14L |
probably benign |
Het |
| Vps35 |
T |
A |
8: 86,000,186 (GRCm39) |
D480V |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,213 (GRCm39) |
L1393P |
probably damaging |
Het |
| Zfp512 |
G |
A |
5: 31,630,158 (GRCm39) |
M274I |
probably benign |
Het |
| Znfx1 |
C |
G |
2: 166,886,151 (GRCm39) |
G803A |
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 |
|
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'- AAAACTAGCTGGGTGTAGTGATGTG -3'
(R):5'- AGAACATTCTCACTGGCACTG -3'
Sequencing Primer
(F):5'- GTGCAATCACATATTTTTGTTGTTGC -3'
(R):5'- GTGAGCCACCCACTATGGTTACTAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation