Incidental Mutation 'IGL01671:Egln1'
ID103484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egln1
Ensembl Gene ENSMUSG00000031987
Gene Nameegl-9 family hypoxia-inducible factor 1
SynonymsHif-p4h-2, Phd2, ORF13, SM-20
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01671
Quality Score
Status
Chromosome8
Chromosomal Location124908587-124949324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124910715 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 399 (D399G)
Ref Sequence ENSEMBL: ENSMUSP00000034469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034467] [ENSMUST00000034469]
Predicted Effect probably benign
Transcript: ENSMUST00000034467
SMART Domains Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986

DomainStartEndE-ValueType
SprT 44 213 4.39e-72 SMART
low complexity region 383 405 N/A INTRINSIC
low complexity region 442 462 N/A INTRINSIC
Blast:ZnF_Rad18 463 485 8e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000034469
AA Change: D399G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034469
Gene: ENSMUSG00000031987
AA Change: D399G

DomainStartEndE-ValueType
Pfam:zf-MYND 21 58 6e-13 PFAM
low complexity region 59 100 N/A INTRINSIC
low complexity region 141 156 N/A INTRINSIC
P4Hc 182 368 7.58e-46 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 106,983,245 P529S probably damaging Het
Defb45 T C 2: 152,593,411 K26E probably benign Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gad2 T A 2: 22,623,699 Y49* probably null Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
H2-M1 T C 17: 36,670,438 E235G probably damaging Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Rhcg A C 7: 79,598,551 I435S probably benign Het
Slc9c1 A T 16: 45,560,315 T535S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 probably benign Het
Other mutations in Egln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02938:Egln1 APN 8 124914015 critical splice donor site probably null
R0735:Egln1 UTSW 8 124948495 missense possibly damaging 0.94
R0894:Egln1 UTSW 8 124915696 missense probably damaging 0.97
R1557:Egln1 UTSW 8 124948241 nonsense probably null
R2080:Egln1 UTSW 8 124948306 missense probably benign 0.40
R2281:Egln1 UTSW 8 124948414 missense probably benign 0.01
R2420:Egln1 UTSW 8 124948246 missense probably benign 0.04
R6160:Egln1 UTSW 8 124948492 missense probably damaging 0.99
Posted On2014-01-21