Incidental Mutation 'R2032:Hif3a'
| ID |
221351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hif3a
|
| Ensembl Gene |
ENSMUSG00000004328 |
| Gene Name |
hypoxia inducible factor 3, alpha subunit |
| Synonyms |
Nepas, MOP7, bHLHe17 |
| MMRRC Submission |
040039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R2032 (G1)
|
| Quality Score |
93 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16785104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 172
(L172H)
|
| 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: L170H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: L170H
| 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: L172H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: L172H
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,585,056 (GRCm39) |
|
probably benign |
Het |
| Abca7 |
C |
T |
10: 79,844,071 (GRCm39) |
T1359M |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,246,400 (GRCm38) |
S464P |
probably benign |
Het |
| Adgrf1 |
C |
T |
17: 43,622,166 (GRCm39) |
T801I |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Akap12 |
C |
A |
10: 4,306,673 (GRCm39) |
A1161D |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,616 (GRCm39) |
V635D |
possibly damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,762,168 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,203,373 (GRCm39) |
V28A |
probably benign |
Het |
| Atxn3 |
A |
T |
12: 101,908,453 (GRCm39) |
L133* |
probably null |
Het |
| Bmp2 |
T |
C |
2: 133,403,216 (GRCm39) |
S256P |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,978 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,348,984 (GRCm39) |
Y177N |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,900 (GRCm39) |
C66F |
possibly damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,844,781 (GRCm39) |
G674E |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,682,898 (GRCm39) |
V931M |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,993 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,839,069 (GRCm39) |
T450A |
probably benign |
Het |
| Col23a1 |
G |
A |
11: 51,450,835 (GRCm39) |
G215D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd6a |
T |
C |
14: 26,325,904 (GRCm39) |
M5T |
probably benign |
Het |
| Dnajc6 |
T |
G |
4: 101,471,435 (GRCm39) |
I284S |
probably benign |
Het |
| Dolpp1 |
C |
T |
2: 30,282,453 (GRCm39) |
A2V |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,936,480 (GRCm39) |
T711I |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,260,622 (GRCm39) |
D1065G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,799,460 (GRCm39) |
A293S |
probably benign |
Het |
| Fap |
A |
G |
2: 62,372,581 (GRCm39) |
V266A |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,131 (GRCm39) |
Y71F |
probably damaging |
Het |
| Gm3443 |
G |
T |
19: 21,533,164 (GRCm39) |
G43C |
probably damaging |
Het |
| Gpr146 |
T |
C |
5: 139,364,902 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
T |
C |
17: 13,061,457 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
G |
A |
7: 23,120,937 (GRCm39) |
R717Q |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,817,283 (GRCm39) |
V36A |
possibly damaging |
Het |
| Or10v5 |
C |
T |
19: 11,805,664 (GRCm39) |
C242Y |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,083 (GRCm39) |
I179N |
probably benign |
Het |
| Or7a41 |
T |
A |
10: 78,871,163 (GRCm39) |
F178I |
possibly damaging |
Het |
| Parp4 |
T |
A |
14: 56,866,553 (GRCm39) |
I1039K |
possibly damaging |
Het |
| Pate12 |
T |
C |
9: 36,344,195 (GRCm39) |
|
probably null |
Het |
| Pold2 |
A |
T |
11: 5,826,757 (GRCm39) |
I59N |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,264,304 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,716,088 (GRCm39) |
|
probably benign |
Het |
| Recql |
C |
T |
6: 142,313,009 (GRCm39) |
G403R |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,355,928 (GRCm39) |
D198E |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,947 (GRCm39) |
Y93N |
probably damaging |
Het |
| Slc27a3 |
C |
T |
3: 90,294,704 (GRCm39) |
R389H |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,897,035 (GRCm39) |
M417K |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,783,746 (GRCm39) |
K339E |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,265 (GRCm39) |
H163Q |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,074,180 (GRCm39) |
G253R |
probably null |
Het |
| Trpv1 |
A |
G |
11: 73,129,211 (GRCm39) |
T43A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,131 (GRCm39) |
I510T |
probably damaging |
Het |
| Vmn1r224 |
C |
A |
17: 20,639,658 (GRCm39) |
D78E |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,210 (GRCm39) |
I274L |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,868,946 (GRCm39) |
V361I |
probably benign |
Het |
| Zpbp2 |
A |
T |
11: 98,445,534 (GRCm39) |
K165N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGATGCCCTACTGGACTC -3'
(R):5'- AAGTGGGTTTTGCAGTTACAGATTC -3'
Sequencing Primer
(F):5'- ACTCAGTCTCGGGGAGTTC -3'
(R):5'- GATTCAGAGATCCAAGCTCAGGTTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation