Incidental Mutation 'IGL03000:Hif3a'
| ID |
407291 |
| 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 # |
IGL03000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16782564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 334
(I334V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037762]
[ENSMUST00000108492]
[ENSMUST00000153833]
|
| AlphaFold |
Q0VBL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037762
AA Change: I332V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: I332V
| 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
AA Change: I334V
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: I334V
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,360,959 (GRCm39) |
S445G |
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,208,640 (GRCm39) |
V226I |
probably benign |
Het |
| Ankrd34c |
A |
T |
9: 89,611,239 (GRCm39) |
D367E |
probably benign |
Het |
| Bmp6 |
G |
T |
13: 38,682,887 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
G |
16: 52,024,905 (GRCm39) |
D933E |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,489 (GRCm39) |
S95P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,985,115 (GRCm39) |
I1658V |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,781,347 (GRCm39) |
T478S |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,435 (GRCm39) |
F247L |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,242,724 (GRCm39) |
E29G |
probably damaging |
Het |
| Dctn3 |
T |
A |
4: 41,719,912 (GRCm39) |
I65F |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,969 (GRCm39) |
E743G |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,775,316 (GRCm39) |
T281N |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,709,924 (GRCm39) |
T307K |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,223,745 (GRCm39) |
N93I |
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,449,292 (GRCm39) |
D1930G |
probably damaging |
Het |
| Ints1 |
G |
T |
5: 139,752,261 (GRCm39) |
N756K |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,693,635 (GRCm39) |
F404L |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,489,170 (GRCm39) |
R4590W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,699,355 (GRCm39) |
V134E |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,785,881 (GRCm39) |
V736A |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,602 (GRCm39) |
I226N |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,026 (GRCm39) |
K16* |
probably null |
Het |
| Mms22l |
G |
T |
4: 24,581,161 (GRCm39) |
V864L |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,487,963 (GRCm39) |
M320L |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,085,806 (GRCm39) |
P243S |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,912,048 (GRCm39) |
D1246E |
possibly damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,299 (GRCm39) |
T193A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,549,247 (GRCm39) |
|
probably benign |
Het |
| Or6k8-ps1 |
A |
G |
1: 173,979,126 (GRCm39) |
T15A |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,378,518 (GRCm39) |
F2008I |
probably damaging |
Het |
| Rhag |
A |
G |
17: 41,139,413 (GRCm39) |
K116R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,798,721 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
C |
A |
1: 125,502,479 (GRCm39) |
T277N |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,222,675 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,312,032 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,365 (GRCm39) |
S830P |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,122,476 (GRCm39) |
T112A |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,949,888 (GRCm39) |
V947A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,642,953 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,025,096 (GRCm39) |
V560D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,282,053 (GRCm39) |
E1856V |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,612,777 (GRCm39) |
M457V |
probably benign |
Het |
| Zfp711 |
C |
T |
X: 111,534,555 (GRCm39) |
Q137* |
probably null |
Het |
| Zkscan17 |
T |
C |
11: 59,377,986 (GRCm39) |
Y399C |
probably damaging |
Het |
| Zswim6 |
T |
G |
13: 107,863,649 (GRCm39) |
|
noncoding transcript |
Het |
| Zswim6 |
T |
A |
13: 107,863,650 (GRCm39) |
|
noncoding transcript |
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 |
|
|
IGL02704:Hif3a
|
APN |
7 |
16,784,686 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation