Incidental Mutation 'R3780:Hif3a'
| ID |
272000 |
| Institutional Source |
Beutler Lab
|
| 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: 0.198)
|
| Stock # |
R3780 (G1)
|
| Quality Score |
193 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16765432-16796352 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16788638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 111
(E111G)
|
| 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: E109G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048248
Gene: ENSMUSG00000004328
AA Change: E109G
| 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: E111G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328
AA Change: E111G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
93% (40/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
| Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
| Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
| Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
| Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
| Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
| Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
| Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
| Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
| Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
| Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
| Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
| Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
| Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
| Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
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 |
|
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'- AAGAAGCTCTGAGTCCCTCTC -3'
(R):5'- TAGATCCGTGACTGACAGCTG -3'
Sequencing Primer
(F):5'- GGGTCAGGTCTCAGCTTCATAC -3'
(R):5'- TGACTGACAGCTGCCCCATC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation