Incidental Mutation 'R9097:Arnt'
| ID |
691399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
068912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9097 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95397588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 535
(S535I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015666
AA Change: S515I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: S515I
| 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: S520I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: S520I
| 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: S535I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: S535I
| 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: S520I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: S520I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
96% (50/52) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
G |
A |
14: 33,793,660 (GRCm39) |
V463I |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,326,887 (GRCm39) |
L162Q |
possibly damaging |
Het |
| Arhgap40 |
A |
T |
2: 158,389,584 (GRCm39) |
M586L |
probably benign |
Het |
| Bsx |
G |
T |
9: 40,785,636 (GRCm39) |
G55C |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,098,049 (GRCm39) |
I1016M |
possibly damaging |
Het |
| Col9a1 |
A |
T |
1: 24,224,207 (GRCm39) |
I130F |
unknown |
Het |
| Cyp51 |
G |
T |
5: 4,149,172 (GRCm39) |
T235N |
possibly damaging |
Het |
| Depdc1a |
T |
A |
3: 159,204,117 (GRCm39) |
D55E |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,080,721 (GRCm39) |
I10N |
probably benign |
Het |
| Dzank1 |
G |
T |
2: 144,316,882 (GRCm39) |
L767I |
possibly damaging |
Het |
| Eif3k |
A |
T |
7: 28,671,660 (GRCm39) |
*193K |
probably null |
Het |
| Eprs1 |
C |
A |
1: 185,139,303 (GRCm39) |
A896E |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,550,505 (GRCm39) |
F840I |
possibly damaging |
Het |
| Fut2 |
G |
T |
7: 45,300,375 (GRCm39) |
H132Q |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,474,347 (GRCm39) |
*443W |
probably null |
Het |
| Gimd1 |
T |
A |
3: 132,340,661 (GRCm39) |
M59K |
probably benign |
Het |
| Glis2 |
A |
G |
16: 4,429,640 (GRCm39) |
T228A |
probably damaging |
Het |
| Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,836,570 (GRCm39) |
I367T |
probably benign |
Het |
| Grik1 |
G |
A |
16: 87,732,796 (GRCm39) |
T692I |
|
Het |
| Igf2r |
G |
T |
17: 12,910,100 (GRCm39) |
A2043D |
probably damaging |
Het |
| Il12b |
C |
A |
11: 44,301,107 (GRCm39) |
L208M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,301,108 (GRCm39) |
L208Q |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,557,459 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,855 (GRCm39) |
D133G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,231,398 (GRCm39) |
D777G |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,723,441 (GRCm39) |
L157P |
probably benign |
Het |
| Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
| Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,196 (GRCm39) |
K292* |
probably null |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,475 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5p73 |
A |
T |
7: 108,064,815 (GRCm39) |
I95F |
probably damaging |
Het |
| Or6c7 |
T |
A |
10: 129,323,647 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or7g22 |
G |
A |
9: 19,048,670 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,669 (GRCm39) |
V247E |
probably damaging |
Het |
| Pkn2 |
C |
T |
3: 142,515,249 (GRCm39) |
R695Q |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,012 (GRCm39) |
D189G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,905,061 (GRCm39) |
S226P |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,499,843 (GRCm39) |
N1267S |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,638,980 (GRCm39) |
|
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,878,577 (GRCm39) |
D189E |
probably benign |
Het |
| Serpinb7 |
G |
A |
1: 107,377,907 (GRCm39) |
C200Y |
probably damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,497 (GRCm39) |
M316L |
possibly damaging |
Het |
| Supt6 |
G |
T |
11: 78,113,100 (GRCm39) |
H948N |
probably benign |
Het |
| Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
| Tasp1 |
A |
T |
2: 139,725,690 (GRCm39) |
|
probably null |
Het |
| Telo2 |
T |
C |
17: 25,324,066 (GRCm39) |
T550A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,850,122 (GRCm39) |
N225K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,622 (GRCm39) |
T1724A |
possibly damaging |
Het |
| Tyk2 |
C |
A |
9: 21,020,072 (GRCm39) |
E1029* |
probably null |
Het |
| Uhmk1 |
C |
T |
1: 170,042,879 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,181,850 (GRCm39) |
R330W |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,250 (GRCm39) |
I124N |
probably benign |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,444 (GRCm39) |
N303S |
probably benign |
Het |
| Vmn1r50 |
G |
A |
6: 90,085,022 (GRCm39) |
V256I |
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 |
|
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 |
|
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'- CATTCCCAGGTGAGTGTACC -3'
(R):5'- GAAGTATGCTGACTGGGCAG -3'
Sequencing Primer
(F):5'- TACTGCTCTTGGAGAAAGCC -3'
(R):5'- GGCAGTCCCATCAGTAATAATGAAAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation