Incidental Mutation 'R1276:Egln2'
ID 150890
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 039342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1276 (G1)
Quality Score 132
Status Not validated
Chromosome 7
Chromosomal Location 26858083-26866227 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TTGCTGCTGCTGCTGCTGCTG to TTGCTGCTGCTGCTGCTG at 26864430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080058] [ENSMUST00000093040] [ENSMUST00000108382] [ENSMUST00000153511] [ENSMUST00000154724]
AlphaFold Q91YE2
Predicted Effect probably benign
Transcript: ENSMUST00000080058
SMART Domains Protein: ENSMUSP00000078966
Gene: ENSMUSG00000058709

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: ENSMUST00000093040
SMART Domains Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291

DomainStartEndE-ValueType
RAB 9 172 2.47e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108382
SMART Domains Protein: ENSMUSP00000104019
Gene: ENSMUSG00000058709

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 noncoding transcript
Transcript: ENSMUST00000134462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152753
Predicted Effect probably benign
Transcript: ENSMUST00000153511
SMART Domains Protein: ENSMUSP00000138477
Gene: ENSMUSG00000053291

DomainStartEndE-ValueType
Pfam:Arf 3 97 1.8e-11 PFAM
Pfam:Miro 10 95 9.5e-15 PFAM
Pfam:Ras 10 95 7.8e-35 PFAM
Pfam:Gtr1_RagA 10 98 4.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154724
SMART Domains Protein: ENSMUSP00000122859
Gene: ENSMUSG00000095538

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SH3 46 112 8.92e-5 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 C A 8: 27,609,852 (GRCm39) A660D probably damaging Het
Ccdc82 A T 9: 13,281,903 (GRCm39) I443F probably benign Het
Cct4 C T 11: 22,952,171 (GRCm39) L391F probably damaging Het
Cep63 A T 9: 102,466,099 (GRCm39) D642E possibly damaging Het
Chd5 T A 4: 152,463,191 (GRCm39) L1424Q probably damaging Het
Cox4i1 A G 8: 121,400,089 (GRCm39) Y71C probably damaging Het
Cyp2c69 T A 19: 39,864,668 (GRCm39) Q270L possibly damaging Het
Fbln1 A G 15: 85,113,791 (GRCm39) D175G probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gm9847 A G 12: 14,544,932 (GRCm39) noncoding transcript Het
Hdlbp A T 1: 93,348,823 (GRCm39) S576T probably benign Het
Hmgxb3 T C 18: 61,298,576 (GRCm39) N296S probably benign Het
Lrba T A 3: 86,571,833 (GRCm39) V2379E probably damaging Het
Lrp1b A T 2: 41,618,588 (GRCm39) I162N probably benign Het
Mydgf A G 17: 56,486,362 (GRCm39) probably null Het
Sh3pxd2a T C 19: 47,256,822 (GRCm39) D632G probably benign Het
Ska3 T C 14: 58,057,726 (GRCm39) M209V probably damaging Het
Slc4a10 A G 2: 62,080,787 (GRCm39) E308G probably damaging Het
Srsf4 C T 4: 131,624,996 (GRCm39) T131M probably damaging Het
Suco A T 1: 161,685,025 (GRCm39) S156T probably benign Het
Svs5 T A 2: 164,079,168 (GRCm39) Q246H possibly damaging Het
Syne2 A G 12: 75,987,963 (GRCm39) probably null Het
Tbc1d9b T A 11: 50,043,476 (GRCm39) H532Q possibly damaging Het
Tcf21 G A 10: 22,695,489 (GRCm39) T105I probably damaging Het
Thsd7a C A 6: 12,418,369 (GRCm39) C620F probably damaging Het
Vmn1r194 A G 13: 22,429,031 (GRCm39) Y216C probably damaging Het
Vmn2r94 T C 17: 18,477,344 (GRCm39) S356G possibly damaging Het
Wasf1 T A 10: 40,812,522 (GRCm39) I437N unknown Het
Wdr24 A G 17: 26,046,441 (GRCm39) Y538C probably benign Het
Zbtb4 G T 11: 69,667,045 (GRCm39) D117Y probably damaging Het
Zfp654 A T 16: 64,605,699 (GRCm39) F293L probably damaging Het
Zkscan7 A G 9: 122,719,788 (GRCm39) E158G probably damaging Het
Other mutations in Egln2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1455:Egln2 UTSW 7 26,859,796 (GRCm39) missense probably damaging 1.00
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'- TAGTTGCCCATCACGAAGACGC -3'
(R):5'- TTGGAGTCTAGCCGAGCCAGAATG -3'

Sequencing Primer
(F):5'- TCAGGGCTTCCACCTCAG -3'
(R):5'- TTGGTCACCAAGGAGTGC -3'
Posted On 2014-01-29