Incidental Mutation 'R9542:Arnt'
| ID |
719924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arnt
|
| Ensembl Gene |
ENSMUSG00000015522 |
| Gene Name |
aryl hydrocarbon receptor nuclear translocator |
| Synonyms |
Hif1b, ESTM42, D3Ertd557e, bHLHe2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95341699-95404551 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95397954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 599
(A599V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015666]
[ENSMUST00000090804]
[ENSMUST00000102749]
[ENSMUST00000107161]
[ENSMUST00000136413]
|
| AlphaFold |
P53762 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015666
AA Change: A579V
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: A579V
| 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: A584V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: A584V
| 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: A599V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: A599V
| 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: A584V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: A584V
| 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: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
|
| 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 |
|---|
| Acbd6 |
T |
C |
1: 155,443,356 (GRCm39) |
S105P |
probably benign |
Het |
| Acot12 |
G |
A |
13: 91,931,110 (GRCm39) |
V453M |
probably damaging |
Het |
| Actr2 |
C |
T |
11: 20,044,350 (GRCm39) |
M85I |
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,210,379 (GRCm39) |
D62G |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,950,566 (GRCm39) |
E2153G |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,911,850 (GRCm39) |
T149S |
probably benign |
Het |
| Atcay |
G |
A |
10: 81,043,686 (GRCm39) |
T353I |
unknown |
Het |
| Aven |
T |
C |
2: 112,455,517 (GRCm39) |
F143L |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,009,715 (GRCm39) |
L149F |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,532,037 (GRCm39) |
Y228C |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,316 (GRCm39) |
F640L |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,145,930 (GRCm39) |
R1220G |
possibly damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,268,508 (GRCm39) |
Q1231* |
probably null |
Het |
| Cdh20 |
T |
A |
1: 104,875,067 (GRCm39) |
V283E |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,484,533 (GRCm39) |
I241V |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,316,975 (GRCm39) |
V787A |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,864,775 (GRCm39) |
F727S |
probably damaging |
Het |
| Eif5b |
G |
T |
1: 38,057,131 (GRCm39) |
E63* |
probably null |
Het |
| Fanca |
A |
G |
8: 124,023,078 (GRCm39) |
V553A |
probably damaging |
Het |
| Flacc1 |
C |
T |
1: 58,717,504 (GRCm39) |
A136T |
probably benign |
Het |
| Gm37240 |
A |
C |
3: 84,417,196 (GRCm39) |
H174Q |
probably benign |
Het |
| Kcnc4 |
C |
T |
3: 107,365,571 (GRCm39) |
W212* |
probably null |
Het |
| Myh2 |
G |
A |
11: 67,072,002 (GRCm39) |
E577K |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,325,178 (GRCm39) |
V967I |
possibly damaging |
Het |
| Nmur2 |
T |
C |
11: 55,931,649 (GRCm39) |
T21A |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,110,426 (GRCm39) |
C197R |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,104,943 (GRCm39) |
D183E |
probably benign |
Het |
| Or2o1 |
C |
A |
11: 49,051,073 (GRCm39) |
C77* |
probably null |
Het |
| Or52ad1 |
T |
C |
7: 102,995,569 (GRCm39) |
I189V |
probably benign |
Het |
| Or8h7 |
G |
T |
2: 86,720,813 (GRCm39) |
H235Q |
probably benign |
Het |
| Pard3b |
C |
T |
1: 62,250,786 (GRCm39) |
R572* |
probably null |
Het |
| Pdcd6ip |
T |
C |
9: 113,520,589 (GRCm39) |
S132G |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,149,235 (GRCm39) |
F364L |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Pgr |
G |
T |
9: 8,901,532 (GRCm39) |
C355F |
possibly damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,188,004 (GRCm39) |
S3435R |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,284 (GRCm39) |
D2597G |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,057,095 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Prrc2c |
T |
C |
1: 162,508,359 (GRCm39) |
E2410G |
possibly damaging |
Het |
| Rpap2 |
C |
G |
5: 107,768,180 (GRCm39) |
S339R |
probably benign |
Het |
| Rrp36 |
G |
C |
17: 46,983,492 (GRCm39) |
R69G |
possibly damaging |
Het |
| Rrp8 |
T |
C |
7: 105,382,606 (GRCm39) |
T449A |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,366,860 (GRCm39) |
D54G |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,152,516 (GRCm39) |
W228* |
probably null |
Het |
| Serpinb9g |
A |
G |
13: 33,679,141 (GRCm39) |
K337R |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,324,822 (GRCm39) |
K131N |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,077 (GRCm39) |
I742F |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,399,426 (GRCm39) |
P2291L |
probably benign |
Het |
| Ss18l2 |
T |
A |
9: 121,541,666 (GRCm39) |
L61* |
probably null |
Het |
| Suco |
C |
T |
1: 161,661,668 (GRCm39) |
R921H |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,466,008 (GRCm39) |
I910N |
probably damaging |
Het |
| Tmem18 |
G |
A |
12: 30,638,557 (GRCm39) |
M106I |
|
Het |
| Tob1 |
T |
G |
11: 94,105,234 (GRCm39) |
S257A |
unknown |
Het |
| Trim67 |
G |
C |
8: 125,521,497 (GRCm39) |
K286N |
possibly damaging |
Het |
| Trmt112 |
A |
G |
19: 6,887,956 (GRCm39) |
N62S |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,819,308 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ube2j1 |
G |
T |
4: 33,040,793 (GRCm39) |
E100* |
probably null |
Het |
| Urgcp |
A |
T |
11: 5,667,517 (GRCm39) |
F317I |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,970,522 (GRCm39) |
D588E |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,890,210 (GRCm39) |
T115S |
probably damaging |
Het |
| Zfp119a |
G |
A |
17: 56,172,593 (GRCm39) |
Q417* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,916,442 (GRCm39) |
C860Y |
probably damaging |
Het |
| Zmym4 |
T |
C |
4: 126,799,164 (GRCm39) |
N724S |
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 |
|
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 |
|
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'- GCCCAGTCAGCATACTTCTAC -3'
(R):5'- CGTTTGGAACCTAGAGCAAGGC -3'
Sequencing Primer
(F):5'- CAGCATACTTCTACTTCAGTTACAG -3'
(R):5'- TTTGGAACCTAGAGCAAGGCAATAG -3'
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| Posted On |
2022-07-18 |
Incidental Mutation