Incidental Mutation 'R3743:Arnt'
| ID |
270439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95382016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015666
AA Change: V198A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: V198A
| 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: V203A
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: V203A
| 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: V218A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: V218A
| 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: V203A
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: V203A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156653
|
| Meta Mutation Damage Score |
0.0783 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
| Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
| Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
| Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
| Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
| Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
| Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
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 |
|
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 |
|
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'- TGCTTCCCATGATCAGTTGTG -3'
(R):5'- AAGCTTTGCTAGATTCAACCAACC -3'
Sequencing Primer
(F):5'- TGGTTTATTTTCTTGACCAGGAAC -3'
(R):5'- TTGCTAGATTCAACCAACCAATGTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation