Incidental Mutation 'R1455:Egln2'
| ID |
161721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egln2
|
| Ensembl Gene |
ENSMUSG00000058709 |
| Gene Name |
egl-9 family hypoxia-inducible factor 2 |
| Synonyms |
SM-20, Hif-p4h-1, Ier4, Phd1, 0610011A13Rik |
| MMRRC Submission |
039510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26858083-26866227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26859796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 306
(Y306H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080058]
[ENSMUST00000108382]
[ENSMUST00000108385]
[ENSMUST00000164093]
|
| AlphaFold |
Q91YE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080058
AA Change: Y306H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709
AA Change: Y306H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
75 |
136 |
3e-14 |
BLAST |
|
low complexity region
|
154 |
174 |
N/A |
INTRINSIC |
|
P4Hc
|
201 |
387 |
9.71e-44 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108382
AA Change: Y306H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709
AA Change: Y306H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
75 |
136 |
3e-14 |
BLAST |
|
low complexity region
|
154 |
174 |
N/A |
INTRINSIC |
|
P4Hc
|
201 |
387 |
9.71e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108385
|
| SMART Domains |
Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
35 |
492 |
5.3e-130 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164093
|
| SMART Domains |
Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
43 |
500 |
2.6e-130 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygotes are viable with no apparent abnormalities in cardiovascular, hematopoietic, or placental morphology and development. [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 |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,824 (GRCm39) |
N285D |
possibly damaging |
Het |
| Adam9 |
T |
G |
8: 25,483,125 (GRCm39) |
M227L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,585,471 (GRCm39) |
D21G |
probably damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,171,381 (GRCm39) |
A1387V |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,182,097 (GRCm39) |
V306E |
probably damaging |
Het |
| Brsk1 |
G |
A |
7: 4,707,250 (GRCm39) |
V268M |
probably damaging |
Het |
| Cfap300 |
T |
G |
9: 8,022,457 (GRCm39) |
N255T |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 122,989,758 (GRCm39) |
E133G |
possibly damaging |
Het |
| Col24a1 |
T |
A |
3: 145,166,593 (GRCm39) |
L1076H |
probably damaging |
Het |
| Ddah1 |
G |
T |
3: 145,594,864 (GRCm39) |
R208L |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,090,368 (GRCm39) |
N960S |
probably benign |
Het |
| Fgfr1 |
T |
C |
8: 26,052,292 (GRCm39) |
V293A |
possibly damaging |
Het |
| Gja3 |
A |
G |
14: 57,273,842 (GRCm39) |
Y177H |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,845 (GRCm39) |
|
probably null |
Het |
| Gprc5a |
G |
A |
6: 135,056,245 (GRCm39) |
V231I |
probably benign |
Het |
| Kdm4d |
C |
A |
9: 14,375,691 (GRCm39) |
A56S |
probably damaging |
Het |
| Lingo4 |
G |
A |
3: 94,306,699 (GRCm39) |
|
probably benign |
Het |
| Map6 |
A |
G |
7: 98,917,421 (GRCm39) |
T65A |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,121,089 (GRCm39) |
I653T |
probably benign |
Het |
| Ndufa12 |
A |
G |
10: 94,039,176 (GRCm39) |
T70A |
probably benign |
Het |
| Nfe2l3 |
C |
A |
6: 51,434,744 (GRCm39) |
P435T |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,174 (GRCm39) |
V412E |
possibly damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,205 (GRCm39) |
Y138* |
probably null |
Het |
| Or6aa1 |
A |
T |
7: 86,043,803 (GRCm39) |
F301Y |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,020,008 (GRCm39) |
F1344L |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,181,818 (GRCm39) |
V297A |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Pramel7 |
T |
C |
2: 87,320,067 (GRCm39) |
T409A |
probably benign |
Het |
| Proc |
C |
G |
18: 32,256,451 (GRCm39) |
M405I |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,117,274 (GRCm39) |
K744N |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,478 (GRCm39) |
I279F |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,129,822 (GRCm39) |
R568L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,309,997 (GRCm39) |
M1215K |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,732,083 (GRCm39) |
A1274T |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,179,406 (GRCm39) |
V1253A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,736,821 (GRCm39) |
I800V |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,248,013 (GRCm39) |
I1072T |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,315,835 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
A |
G |
7: 140,392,687 (GRCm39) |
V224A |
probably benign |
Het |
|
| Other mutations in Egln2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Egln2
|
APN |
7 |
26,859,717 (GRCm39) |
missense |
probably null |
0.03 |
|
IGL01975:Egln2
|
APN |
7 |
26,859,745 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02261:Egln2
|
APN |
7 |
26,859,291 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0268:Egln2
|
UTSW |
7 |
26,864,672 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1276:Egln2
|
UTSW |
7 |
26,864,430 (GRCm39) |
unclassified |
probably benign |
|
|
R4569:Egln2
|
UTSW |
7 |
26,859,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Egln2
|
UTSW |
7 |
26,858,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Egln2
|
UTSW |
7 |
26,859,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Egln2
|
UTSW |
7 |
26,859,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7302:Egln2
|
UTSW |
7 |
26,864,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9081:Egln2
|
UTSW |
7 |
26,864,286 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Egln2
|
UTSW |
7 |
26,864,415 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGCCCAGAGTCTACATTGCC -3'
(R):5'- CTTGAAGCCAGCCTTAAAGCTTGC -3'
Sequencing Primer
(F):5'- GGCCCACAGTCAGCTAAAGAG -3'
(R):5'- CACATGGCTAAGGTTAGGATCTCTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation