Incidental Mutation 'R5722:Hif1a'
| ID |
452282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hif1a
|
| Ensembl Gene |
ENSMUSG00000021109 |
| Gene Name |
hypoxia inducible factor 1, alpha subunit |
| Synonyms |
bHLHe78, MOP1, HIF-1alpha, HIF1alpha |
| MMRRC Submission |
043340-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5722 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
73948149-73994304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73988533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 535
(D535E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021530]
[ENSMUST00000110461]
|
| AlphaFold |
Q61221 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021530
AA Change: D535E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000021530
Gene: ENSMUSG00000021109
AA Change: D535E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
23 |
78 |
1.29e-8 |
SMART |
|
PAS
|
87 |
153 |
1.05e-9 |
SMART |
|
PAS
|
230 |
296 |
2.08e-8 |
SMART |
|
PAC
|
302 |
345 |
6.85e-9 |
SMART |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
Pfam:HIF-1
|
564 |
594 |
5.4e-18 |
PFAM |
|
low complexity region
|
621 |
645 |
N/A |
INTRINSIC |
|
Pfam:HIF-1a_CTAD
|
799 |
835 |
3.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110461
AA Change: D509E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106088
Gene: ENSMUSG00000021109
AA Change: D509E
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
11 |
66 |
1.29e-8 |
SMART |
|
PAS
|
75 |
141 |
1.05e-9 |
SMART |
|
PAS
|
218 |
284 |
2.08e-8 |
SMART |
|
PAC
|
290 |
333 |
6.85e-9 |
SMART |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
Pfam:HIF-1
|
536 |
569 |
6e-19 |
PFAM |
|
low complexity region
|
595 |
619 |
N/A |
INTRINSIC |
|
Pfam:HIF-1a_CTAD
|
771 |
810 |
1.2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221833
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
G |
A |
3: 32,772,194 (GRCm39) |
R164H |
probably damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,573,269 (GRCm39) |
Y178H |
probably benign |
Het |
| Agtr1a |
A |
G |
13: 30,566,016 (GRCm39) |
*360W |
probably null |
Het |
| Arfgef1 |
A |
G |
1: 10,209,109 (GRCm39) |
V1830A |
probably benign |
Het |
| Asic2 |
A |
T |
11: 81,858,806 (GRCm39) |
S69T |
probably benign |
Het |
| Axin1 |
A |
T |
17: 26,401,531 (GRCm39) |
N368Y |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,898,473 (GRCm39) |
E537G |
probably damaging |
Het |
| Ces1d |
G |
A |
8: 93,904,756 (GRCm39) |
P328L |
probably benign |
Het |
| Cndp2 |
T |
A |
18: 84,686,203 (GRCm39) |
K461* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,620,852 (GRCm39) |
H977L |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
| Gm7168 |
T |
C |
17: 14,169,824 (GRCm39) |
V397A |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
T |
C |
13: 70,763,219 (GRCm39) |
E173G |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,909 (GRCm39) |
V115A |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,271,831 (GRCm39) |
E101D |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kyat1 |
C |
T |
2: 30,078,123 (GRCm39) |
C127Y |
probably damaging |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,755 (GRCm39) |
H282R |
probably benign |
Het |
| Npsr1 |
C |
A |
9: 24,225,096 (GRCm39) |
P368Q |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,401,872 (GRCm39) |
V839M |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,930 (GRCm39) |
M103L |
probably damaging |
Het |
| Or6n2 |
G |
T |
1: 173,897,436 (GRCm39) |
D191Y |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,955,198 (GRCm39) |
D351G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,479,160 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
G |
T |
1: 133,031,574 (GRCm39) |
G1505W |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,414,714 (GRCm39) |
I112L |
probably benign |
Het |
| Potefam1 |
T |
A |
2: 111,034,468 (GRCm39) |
T355S |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,226 (GRCm39) |
I575T |
possibly damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,029,656 (GRCm39) |
E46G |
probably damaging |
Het |
| Rbm46 |
A |
G |
3: 82,772,640 (GRCm39) |
V164A |
possibly damaging |
Het |
| Sap25 |
A |
G |
5: 137,639,713 (GRCm39) |
E13G |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,899,860 (GRCm39) |
V1269E |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,726,109 (GRCm39) |
S18R |
possibly damaging |
Het |
| Snrk |
T |
C |
9: 121,993,072 (GRCm39) |
I345T |
probably benign |
Het |
| Sp4 |
T |
A |
12: 118,262,976 (GRCm39) |
I357F |
possibly damaging |
Het |
| Sra1 |
A |
G |
18: 36,808,031 (GRCm39) |
L399P |
probably damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,242 (GRCm39) |
T658A |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,092,339 (GRCm39) |
R13H |
probably benign |
Het |
| Thoc3 |
G |
T |
13: 54,608,014 (GRCm39) |
T310N |
probably damaging |
Het |
| Tox3 |
A |
C |
8: 91,074,489 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
G |
9: 8,680,550 (GRCm39) |
E848G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,538,590 (GRCm39) |
T34703S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,776,312 (GRCm39) |
I1577V |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Ugt2b36 |
C |
T |
5: 87,240,297 (GRCm39) |
W29* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
| Zfp790 |
C |
A |
7: 29,529,514 (GRCm39) |
S733* |
probably null |
Het |
|
| Other mutations in Hif1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Hif1a
|
APN |
12 |
73,988,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Hif1a
|
APN |
12 |
73,987,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02230:Hif1a
|
APN |
12 |
73,979,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02561:Hif1a
|
APN |
12 |
73,988,980 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02698:Hif1a
|
APN |
12 |
73,977,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03027:Hif1a
|
APN |
12 |
73,987,251 (GRCm39) |
missense |
probably benign |
0.03 |
|
lightweight
|
UTSW |
12 |
73,988,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Hif1a
|
UTSW |
12 |
73,989,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0614:Hif1a
|
UTSW |
12 |
73,992,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0678:Hif1a
|
UTSW |
12 |
73,990,965 (GRCm39) |
splice site |
probably null |
|
|
R0967:Hif1a
|
UTSW |
12 |
73,984,444 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1351:Hif1a
|
UTSW |
12 |
73,987,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1387:Hif1a
|
UTSW |
12 |
73,989,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1858:Hif1a
|
UTSW |
12 |
73,990,929 (GRCm39) |
missense |
probably benign |
|
|
R2105:Hif1a
|
UTSW |
12 |
73,984,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Hif1a
|
UTSW |
12 |
73,977,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4825:Hif1a
|
UTSW |
12 |
73,979,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Hif1a
|
UTSW |
12 |
73,986,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Hif1a
|
UTSW |
12 |
73,990,867 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5594:Hif1a
|
UTSW |
12 |
73,984,566 (GRCm39) |
nonsense |
probably null |
|
|
R5818:Hif1a
|
UTSW |
12 |
73,986,338 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5831:Hif1a
|
UTSW |
12 |
73,988,918 (GRCm39) |
missense |
probably benign |
|
|
R6026:Hif1a
|
UTSW |
12 |
73,979,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Hif1a
|
UTSW |
12 |
73,988,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Hif1a
|
UTSW |
12 |
73,988,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6818:Hif1a
|
UTSW |
12 |
73,992,337 (GRCm39) |
nonsense |
probably null |
|
|
R6878:Hif1a
|
UTSW |
12 |
73,975,055 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8028:Hif1a
|
UTSW |
12 |
73,988,801 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8286:Hif1a
|
UTSW |
12 |
73,992,022 (GRCm39) |
intron |
probably benign |
|
|
R8322:Hif1a
|
UTSW |
12 |
73,986,373 (GRCm39) |
missense |
probably benign |
|
|
R8414:Hif1a
|
UTSW |
12 |
73,984,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8729:Hif1a
|
UTSW |
12 |
73,990,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Hif1a
|
UTSW |
12 |
73,983,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Hif1a
|
UTSW |
12 |
73,989,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9093:Hif1a
|
UTSW |
12 |
73,979,111 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9300:Hif1a
|
UTSW |
12 |
73,987,302 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGACAACATTTGTGGCTGGTC -3'
(R):5'- GAGGCTTTATAATGACCAGTCTTG -3'
Sequencing Primer
(F):5'- GCTGGCCTCAAACTTAGAGAGATTC -3'
(R):5'- TGACCAGTCTTGTAAAAGGAATAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation