Incidental Mutation 'IGL02704:Hif3a'
| ID |
304292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hif3a
|
| Ensembl Gene |
ENSMUSG00000004328 |
| Gene Name |
hypoxia inducible factor 3, alpha subunit |
| Synonyms |
Nepas, MOP7, bHLHe17 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
IGL02704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 16784686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037762]
[ENSMUST00000108492]
[ENSMUST00000153833]
|
| AlphaFold |
Q0VBL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037762
|
| SMART Domains |
Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
18 |
73 |
1.57e-7 |
SMART |
|
PAS
|
82 |
148 |
9.83e-10 |
SMART |
|
PAS
|
225 |
293 |
2.72e-3 |
SMART |
|
PAC
|
299 |
342 |
2.18e-2 |
SMART |
|
low complexity region
|
421 |
437 |
N/A |
INTRINSIC |
|
Pfam:HIF-1
|
472 |
505 |
1.8e-18 |
PFAM |
|
low complexity region
|
508 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108492
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
20 |
75 |
1.57e-7 |
SMART |
|
PAS
|
84 |
150 |
9.83e-10 |
SMART |
|
PAS
|
227 |
295 |
2.72e-3 |
SMART |
|
PAC
|
301 |
344 |
2.18e-2 |
SMART |
|
low complexity region
|
423 |
439 |
N/A |
INTRINSIC |
|
Pfam:HIF-1
|
475 |
506 |
5.7e-18 |
PFAM |
|
low complexity region
|
510 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139224
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153833
|
| SMART Domains |
Protein: ENSMUSP00000117728
Gene: ENSMUSG00000004328
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
20 |
75 |
1.27e-7 |
SMART |
|
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired lung remodeling resulting in hypertrophy of the heart right ventricle and pulmonary hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
G |
T |
2: 93,673,271 (GRCm39) |
P162Q |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,616,368 (GRCm39) |
N291S |
possibly damaging |
Het |
| Ankar |
T |
C |
1: 72,691,502 (GRCm39) |
D935G |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,070,080 (GRCm39) |
C935* |
probably null |
Het |
| Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
| Ddah2 |
C |
A |
17: 35,279,983 (GRCm39) |
D158E |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,181,293 (GRCm39) |
T1060I |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,733,297 (GRCm39) |
T525A |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,322,263 (GRCm39) |
M604T |
probably benign |
Het |
| Frmpd1 |
T |
G |
4: 45,285,082 (GRCm39) |
I1301S |
possibly damaging |
Het |
| Gm5269 |
T |
C |
1: 45,929,235 (GRCm39) |
T2A |
probably benign |
Het |
| Hpgds |
A |
T |
6: 65,100,621 (GRCm39) |
L119* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,874,576 (GRCm39) |
D750G |
probably damaging |
Het |
| Ift43 |
T |
A |
12: 86,207,951 (GRCm39) |
D106E |
probably benign |
Het |
| Iqub |
T |
A |
6: 24,505,909 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,368,466 (GRCm39) |
K1199E |
probably benign |
Het |
| Mast3 |
T |
A |
8: 71,239,519 (GRCm39) |
I395F |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,059,207 (GRCm39) |
S2236P |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,256 (GRCm39) |
V6E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,000 (GRCm39) |
T479S |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,014 (GRCm39) |
T1623A |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,491,948 (GRCm39) |
L283P |
probably damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,312 (GRCm39) |
N245S |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,483 (GRCm38) |
I200V |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,492 (GRCm39) |
E2D |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,577,063 (GRCm39) |
P26S |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,579 (GRCm39) |
V284A |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,621 (GRCm39) |
Q89R |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,784,910 (GRCm39) |
V1958A |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,511,011 (GRCm39) |
A1292V |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,489,592 (GRCm39) |
E223G |
probably damaging |
Het |
| Pou1f1 |
A |
T |
16: 65,326,685 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Rbm25 |
G |
A |
12: 83,689,500 (GRCm39) |
G47D |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,905,943 (GRCm39) |
E712G |
possibly damaging |
Het |
| Snx24 |
A |
G |
18: 53,460,509 (GRCm39) |
N29S |
probably benign |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,597,985 (GRCm39) |
N19643H |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,178,772 (GRCm39) |
T646A |
probably benign |
Het |
|
| Other mutations in Hif3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Hif3a
|
APN |
7 |
16,785,841 (GRCm39) |
splice site |
probably null |
|
|
IGL02496:Hif3a
|
APN |
7 |
16,773,603 (GRCm39) |
splice site |
probably benign |
|
|
IGL02572:Hif3a
|
APN |
7 |
16,784,513 (GRCm39) |
missense |
probably null |
|
|
IGL02638:Hif3a
|
APN |
7 |
16,778,293 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03000:Hif3a
|
APN |
7 |
16,782,564 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03342:Hif3a
|
APN |
7 |
16,775,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0265:Hif3a
|
UTSW |
7 |
16,769,793 (GRCm39) |
makesense |
probably null |
|
|
R0326:Hif3a
|
UTSW |
7 |
16,778,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0396:Hif3a
|
UTSW |
7 |
16,785,946 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Hif3a
|
UTSW |
7 |
16,788,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Hif3a
|
UTSW |
7 |
16,776,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1548:Hif3a
|
UTSW |
7 |
16,778,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1686:Hif3a
|
UTSW |
7 |
16,778,789 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1916:Hif3a
|
UTSW |
7 |
16,773,581 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2026:Hif3a
|
UTSW |
7 |
16,778,322 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2032:Hif3a
|
UTSW |
7 |
16,785,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:Hif3a
|
UTSW |
7 |
16,775,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Hif3a
|
UTSW |
7 |
16,774,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Hif3a
|
UTSW |
7 |
16,788,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3921:Hif3a
|
UTSW |
7 |
16,771,097 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4003:Hif3a
|
UTSW |
7 |
16,778,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4714:Hif3a
|
UTSW |
7 |
16,790,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Hif3a
|
UTSW |
7 |
16,784,490 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5632:Hif3a
|
UTSW |
7 |
16,784,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5778:Hif3a
|
UTSW |
7 |
16,785,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Hif3a
|
UTSW |
7 |
16,785,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Hif3a
|
UTSW |
7 |
16,787,694 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6001:Hif3a
|
UTSW |
7 |
16,784,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6599:Hif3a
|
UTSW |
7 |
16,776,530 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7218:Hif3a
|
UTSW |
7 |
16,784,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Hif3a
|
UTSW |
7 |
16,776,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7479:Hif3a
|
UTSW |
7 |
16,776,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7480:Hif3a
|
UTSW |
7 |
16,776,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7482:Hif3a
|
UTSW |
7 |
16,776,560 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7654:Hif3a
|
UTSW |
7 |
16,783,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7696:Hif3a
|
UTSW |
7 |
16,788,712 (GRCm39) |
missense |
unknown |
|
|
R8071:Hif3a
|
UTSW |
7 |
16,782,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Hif3a
|
UTSW |
7 |
16,788,701 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8826:Hif3a
|
UTSW |
7 |
16,788,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Hif3a
|
UTSW |
7 |
16,774,912 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8860:Hif3a
|
UTSW |
7 |
16,774,912 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9653:Hif3a
|
UTSW |
7 |
16,782,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Hif3a
|
UTSW |
7 |
16,771,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation