Incidental Mutation 'R5778:Hif3a'
| ID |
446814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hif3a
|
| Ensembl Gene |
ENSMUSG00000004328 |
| Gene Name |
hypoxia inducible factor 3, alpha subunit |
| Synonyms |
Nepas, MOP7, bHLHe17 |
| MMRRC Submission |
043376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R5778 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16785909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 129
(I129N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037762]
[ENSMUST00000108492]
[ENSMUST00000153833]
|
| AlphaFold |
Q0VBL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037762
AA Change: I127N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: I127N
| 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 damaging
Transcript: ENSMUST00000108492
AA Change: I129N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: I129N
| 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 damaging
Transcript: ENSMUST00000153833
AA Change: I143N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117728
Gene: ENSMUSG00000004328
AA Change: I143N
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
A |
G |
8: 124,618,864 (GRCm39) |
S340P |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,139 (GRCm39) |
T528A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,074 (GRCm39) |
D4014E |
probably benign |
Het |
| Atp23 |
A |
G |
10: 126,735,451 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,356,007 (GRCm39) |
F1235S |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,582 (GRCm39) |
D262G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,012,863 (GRCm39) |
I1848F |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,416,127 (GRCm39) |
A669V |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,770,820 (GRCm39) |
S391R |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,326 (GRCm39) |
R43Q |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,917,156 (GRCm39) |
N272K |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,542,279 (GRCm39) |
T929S |
possibly damaging |
Het |
| Dusp16 |
G |
T |
6: 134,695,277 (GRCm39) |
T518N |
probably benign |
Het |
| Eno2 |
A |
T |
6: 124,743,261 (GRCm39) |
H158Q |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,867,450 (GRCm39) |
D954G |
unknown |
Het |
| Erg28 |
T |
C |
12: 85,866,254 (GRCm39) |
T75A |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,350,881 (GRCm39) |
T332S |
probably damaging |
Het |
| Fam221b |
A |
G |
4: 43,660,683 (GRCm39) |
F357L |
probably damaging |
Het |
| Fcgr2b |
C |
T |
1: 170,790,957 (GRCm39) |
G279R |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,230,121 (GRCm39) |
L1679M |
probably damaging |
Het |
| Galm |
T |
A |
17: 80,435,146 (GRCm39) |
M1K |
probably null |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Ighv1-11 |
A |
T |
12: 114,576,051 (GRCm39) |
W55R |
probably damaging |
Het |
| Ighv1-20 |
C |
A |
12: 114,687,497 (GRCm39) |
K82N |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,764,832 (GRCm39) |
E148K |
probably benign |
Het |
| Il22b |
C |
A |
10: 118,130,768 (GRCm39) |
E43* |
probably null |
Het |
| Klhdc7b |
A |
T |
15: 89,271,523 (GRCm39) |
R802W |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,374 (GRCm39) |
I101V |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,876,380 (GRCm39) |
L570P |
probably damaging |
Het |
| Map4k1 |
C |
G |
7: 28,693,646 (GRCm39) |
N412K |
probably benign |
Het |
| Metrnl |
A |
T |
11: 121,605,564 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,350,106 (GRCm39) |
D202E |
probably damaging |
Het |
| Mpp2 |
A |
T |
11: 101,955,269 (GRCm39) |
S119T |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,688 (GRCm39) |
T1539A |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,206,154 (GRCm39) |
T715A |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,454,792 (GRCm39) |
N1963K |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,149,834 (GRCm39) |
Y340H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,961 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,337 (GRCm39) |
M277I |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,008,197 (GRCm39) |
E122G |
probably damaging |
Het |
| Pcmtd2 |
A |
C |
2: 181,496,991 (GRCm39) |
T323P |
probably benign |
Het |
| Pign |
C |
A |
1: 105,519,447 (GRCm39) |
G492C |
probably damaging |
Het |
| Plppr3 |
A |
G |
10: 79,702,337 (GRCm39) |
V245A |
possibly damaging |
Het |
| Prl7a2 |
C |
T |
13: 27,844,983 (GRCm39) |
W134* |
probably null |
Het |
| Prom1 |
A |
T |
5: 44,164,389 (GRCm39) |
N722K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,988,860 (GRCm39) |
N663K |
probably damaging |
Het |
| Rgl1 |
G |
T |
1: 152,428,172 (GRCm39) |
H315Q |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,097 (GRCm39) |
A65E |
probably damaging |
Het |
| Spdye4b |
G |
A |
5: 143,188,142 (GRCm39) |
D212N |
probably damaging |
Het |
| Tafa3 |
T |
A |
3: 104,679,505 (GRCm39) |
K126N |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,529,691 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,856,250 (GRCm39) |
V706A |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,033,805 (GRCm39) |
Q201L |
probably damaging |
Het |
| Ubqln1 |
C |
T |
13: 58,331,131 (GRCm39) |
M365I |
probably benign |
Het |
| Usp42 |
A |
T |
5: 143,705,331 (GRCm39) |
Y383N |
probably damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,552 (GRCm39) |
I95T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,274 (GRCm39) |
S819R |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGAACCAGTGAAGGGACAC -3'
(R):5'- AGGGTCCTAGTAAAATTGGGTGC -3'
Sequencing Primer
(F):5'- CTCTCCAGGGAAGGGACC -3'
(R):5'- CCTAGTAAAATTGGGTGCTGATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation