Incidental Mutation 'IGL02261:Egln2'
ID286754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egln2
Ensembl Gene ENSMUSG00000058709
Gene Nameegl-9 family hypoxia-inducible factor 2
SynonymsSM-20, Phd1, Ier4, 0610011A13Rik, Hif-p4h-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02261
Quality Score
Status
Chromosome7
Chromosomal Location27158658-27166802 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 27159866 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 353 (E353K)
Ref Sequence ENSEMBL: ENSMUSP00000104019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000108382] [ENSMUST00000108385] [ENSMUST00000164093]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080058
AA Change: E353K

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709
AA Change: E353K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000108382
AA Change: E353K

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709
AA Change: E353K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:p450 43 500 2.6e-130 PFAM
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Ndrg2 G A 14: 51,911,109 R32C probably damaging Het
Olfr1178 A G 2: 88,391,381 I45V probably benign Het
Olfr324 T C 11: 58,597,804 I138T probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Pygm T A 19: 6,388,271 N171K probably damaging Het
Rbm46 A T 3: 82,864,416 D297E possibly damaging Het
Selenov T A 7: 28,290,579 T167S probably benign Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Egln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Egln2 APN 7 27160292 missense probably null 0.03
IGL01975:Egln2 APN 7 27160320 missense possibly damaging 0.50
R0268:Egln2 UTSW 7 27165247 missense possibly damaging 0.57
R1276:Egln2 UTSW 7 27165005 unclassified probably benign
R1455:Egln2 UTSW 7 27160371 missense probably damaging 1.00
R4569:Egln2 UTSW 7 27159583 missense probably damaging 1.00
R4656:Egln2 UTSW 7 27159193 missense probably benign 0.00
R7201:Egln2 UTSW 7 27160319 missense probably damaging 1.00
R7216:Egln2 UTSW 7 27159829 missense probably damaging 1.00
R7302:Egln2 UTSW 7 27164885 missense probably damaging 0.98
Z1177:Egln2 UTSW 7 27164990 missense probably benign
Posted On2015-04-16