Incidental Mutation 'R1494:Hif3a'
ID |
163810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hif3a
|
Ensembl Gene |
ENSMUSG00000004328 |
Gene Name |
hypoxia inducible factor 3, alpha subunit |
Synonyms |
Nepas, MOP7, bHLHe17 |
MMRRC Submission |
039545-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R1494 (G1)
|
Quality Score |
110 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16788647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 108
(Y108C)
|
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: Y106C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048248 Gene: ENSMUSG00000004328 AA Change: Y106C
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: Y108C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104132 Gene: ENSMUSG00000004328 AA Change: Y108C
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 |
silent
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206290
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
Validation Efficiency |
97% (57/59) |
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 |
1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,987,072 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
Mrps7 |
G |
C |
11: 115,494,952 (GRCm39) |
|
probably benign |
Het |
Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,246,504 (GRCm39) |
R348W |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,921,841 (GRCm39) |
V438E |
possibly damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,225,122 (GRCm39) |
|
probably benign |
Het |
Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCCTGTCCCAACACACTTTGACC -3'
(R):5'- AAAGCTTAGTGGCCTTGCCCTC -3'
Sequencing Primer
(F):5'- AACACACTTTGACCTTCTGTCTG -3'
(R):5'- GGGACTCCAAGACCCTAGAATTTTC -3'
|
Posted On |
2014-03-28 |