Incidental Mutation 'R5877:Hif3a'
| ID |
455601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hif3a
|
| Ensembl Gene |
ENSMUSG00000004328 |
| Gene Name |
hypoxia inducible factor 3, alpha subunit |
| Synonyms |
Nepas, MOP7, bHLHe17 |
| MMRRC Submission |
044083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R5877 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 16785071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 181
(A181E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037762]
[ENSMUST00000108492]
[ENSMUST00000153833]
|
| AlphaFold |
Q0VBL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037762
AA Change: A181E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: A181E
| 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 |
possibly damaging
Transcript: ENSMUST00000108492
AA Change: A183E
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: A183E
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,453,822 (GRCm39) |
H213L |
probably damaging |
Het |
| Alk |
A |
G |
17: 72,274,521 (GRCm39) |
W597R |
probably damaging |
Het |
| Ark2n |
G |
T |
18: 77,730,902 (GRCm39) |
|
probably null |
Het |
| Ash1l |
G |
A |
3: 88,888,891 (GRCm39) |
V257I |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,796,004 (GRCm39) |
V957I |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,849,347 (GRCm39) |
C576G |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,466,686 (GRCm39) |
M2150T |
possibly damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,581 (GRCm39) |
D212A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,028,405 (GRCm39) |
F914S |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,570,476 (GRCm39) |
I62V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,239 (GRCm39) |
M1009T |
possibly damaging |
Het |
| Casp2 |
A |
G |
6: 42,253,571 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
T |
A |
7: 126,793,971 (GRCm39) |
Y106F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,926 (GRCm39) |
C2763Y |
probably damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,516,065 (GRCm39) |
L310V |
possibly damaging |
Het |
| Dusp22 |
G |
A |
13: 30,891,944 (GRCm39) |
V99M |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,787,807 (GRCm39) |
W375R |
probably damaging |
Het |
| Fam131b |
G |
A |
6: 42,297,913 (GRCm39) |
S92L |
probably benign |
Het |
| Fbxw10 |
A |
T |
11: 62,748,542 (GRCm39) |
N390Y |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,756 (GRCm39) |
H928L |
unknown |
Het |
| Gapdhs |
T |
C |
7: 30,431,772 (GRCm39) |
T280A |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,134,524 (GRCm39) |
K50E |
probably damaging |
Het |
| Itgb8 |
A |
G |
12: 119,166,271 (GRCm39) |
S87P |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,411,558 (GRCm39) |
Y302* |
probably null |
Het |
| Lhx1 |
C |
A |
11: 84,413,065 (GRCm39) |
D30Y |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,135 (GRCm39) |
Y148H |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,244,484 (GRCm39) |
H1007L |
possibly damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,559,016 (GRCm39) |
I167T |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,564 (GRCm39) |
I148K |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,834,771 (GRCm39) |
|
probably null |
Het |
| Otud7b |
C |
T |
3: 96,059,277 (GRCm39) |
R347* |
probably null |
Het |
| P3h4 |
G |
T |
11: 100,304,843 (GRCm39) |
H181Q |
probably benign |
Het |
| P4htm |
T |
A |
9: 108,460,932 (GRCm39) |
Y180F |
possibly damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,463 (GRCm39) |
I241V |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,480,467 (GRCm39) |
S1947G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,005 (GRCm39) |
I336V |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,240 (GRCm39) |
D157G |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,367,004 (GRCm39) |
I212S |
probably damaging |
Het |
| Pmvk |
G |
T |
3: 89,371,676 (GRCm39) |
C57F |
probably benign |
Het |
| Pole |
T |
C |
5: 110,480,329 (GRCm39) |
S91P |
probably benign |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,159,356 (GRCm39) |
D570V |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,053,045 (GRCm39) |
I1074N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,489 (GRCm39) |
D1025E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,133,640 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,135 (GRCm39) |
|
probably benign |
Het |
| Rps2 |
A |
T |
17: 24,939,890 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
C |
2: 66,530,217 (GRCm39) |
Y709* |
probably null |
Het |
| Skint1 |
T |
A |
4: 111,878,720 (GRCm39) |
C217* |
probably null |
Het |
| Slc50a1 |
T |
C |
3: 89,176,460 (GRCm39) |
Y82C |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,423 (GRCm39) |
V567A |
probably benign |
Het |
| Snx27 |
A |
T |
3: 94,410,270 (GRCm39) |
W469R |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,643,569 (GRCm39) |
L937P |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,181 (GRCm39) |
T728A |
probably benign |
Het |
| Tnfrsf8 |
G |
A |
4: 145,019,257 (GRCm39) |
R193C |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,120 (GRCm39) |
V673A |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,113 (GRCm39) |
M583K |
possibly damaging |
Het |
| Usp33 |
G |
A |
3: 152,085,233 (GRCm39) |
C623Y |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,017,855 (GRCm39) |
I2562V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,782 (GRCm39) |
D1175G |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,474,209 (GRCm39) |
E338K |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,817,638 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,732,562 (GRCm39) |
K661N |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCTCAGGAAACTTGCAGG -3'
(R):5'- GGCTGGGAGACTTTAACATTTAC -3'
Sequencing Primer
(F):5'- AGGCTGAAAGGACCTTTGTATCCTC -3'
(R):5'- TAACATTTACTTAATGACCCCGCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation