Incidental Mutation 'R5692:Egln3'
ID 443743
Institutional Source Beutler Lab
Gene Symbol Egln3
Ensembl Gene ENSMUSG00000035105
Gene Name egl-9 family hypoxia-inducible factor 3
Synonyms SM-20, 2610021G09Rik, Phd3, Hif-p4h-3
MMRRC Submission 043179-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5692 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 54225767-54250646 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 54227447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039516]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000039516
SMART Domains Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105

DomainStartEndE-ValueType
P4Hc 26 213 9.48e-47 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display decreased apoptosis in SCG neurons, reduced adrenal medullary secretory capacity, abnormal adrenal medulla morphology, reduced circulating adrenaline and noradrenaline levels, and reduced systolic blood pressure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik G A 9: 8,221,991 (GRCm39) noncoding transcript Het
Adcy10 A G 1: 165,342,875 (GRCm39) N247S probably benign Het
Ago3 T C 4: 126,248,862 (GRCm39) probably null Het
Aldh16a1 A G 7: 44,797,223 (GRCm39) V168A probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap26 T A 18: 39,254,945 (GRCm39) V274E probably damaging Het
Clec4d T C 6: 123,245,104 (GRCm39) probably null Het
Dennd4b T C 3: 90,185,090 (GRCm39) Y1166H probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fhad1 T A 4: 141,690,768 (GRCm39) M434L probably benign Het
Gfm1 T G 3: 67,342,955 (GRCm39) M163R probably damaging Het
Isg15 A T 4: 156,284,279 (GRCm39) L83Q probably damaging Het
Ly9 GCCTTTGGGGGACAATTCC GCC 1: 171,432,755 (GRCm39) probably null Het
Med1 G T 11: 98,047,206 (GRCm39) probably benign Het
Mrc2 T A 11: 105,227,468 (GRCm39) V567D probably damaging Het
Nnmt G T 9: 48,514,780 (GRCm39) T79K probably benign Het
Opn1sw G A 6: 29,379,840 (GRCm39) probably benign Het
Optc G T 1: 133,828,714 (GRCm39) probably benign Het
Pcdh17 C T 14: 84,685,980 (GRCm39) P816S probably benign Het
Pcdhb15 T C 18: 37,607,502 (GRCm39) S245P probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Sacs T C 14: 61,445,288 (GRCm39) F2445L probably benign Het
Sel1l T C 12: 91,778,652 (GRCm39) N721S probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc7a11 C G 3: 50,326,780 (GRCm39) V494L probably benign Het
Sulf2 C A 2: 165,923,426 (GRCm39) A598S probably benign Het
Tph2 A T 10: 115,020,732 (GRCm39) D21E probably damaging Het
Trf T C 9: 103,103,324 (GRCm39) Y110C possibly damaging Het
Ttn C T 2: 76,628,202 (GRCm39) E14653K possibly damaging Het
Vmn2r18 A G 5: 151,485,724 (GRCm39) I590T possibly damaging Het
Zfp607b G T 7: 27,402,889 (GRCm39) K448N probably benign Het
Zfp689 T C 7: 127,048,071 (GRCm39) probably benign Het
Zfp709 C T 8: 72,643,999 (GRCm39) P476L probably damaging Het
Other mutations in Egln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02675:Egln3 APN 12 54,249,996 (GRCm39) missense probably benign 0.08
IGL03104:Egln3 APN 12 54,249,981 (GRCm39) splice site probably benign
R0036:Egln3 UTSW 12 54,232,378 (GRCm39) missense possibly damaging 0.95
R0091:Egln3 UTSW 12 54,228,432 (GRCm39) missense probably benign 0.07
R0325:Egln3 UTSW 12 54,250,298 (GRCm39) missense probably benign 0.09
R0358:Egln3 UTSW 12 54,250,082 (GRCm39) missense possibly damaging 0.68
R0494:Egln3 UTSW 12 54,250,107 (GRCm39) missense probably benign 0.01
R1241:Egln3 UTSW 12 54,228,479 (GRCm39) missense probably damaging 1.00
R4786:Egln3 UTSW 12 54,232,367 (GRCm39) missense probably damaging 0.99
R5078:Egln3 UTSW 12 54,228,453 (GRCm39) missense probably damaging 1.00
R5496:Egln3 UTSW 12 54,250,110 (GRCm39) missense probably damaging 1.00
R6038:Egln3 UTSW 12 54,228,476 (GRCm39) missense probably damaging 0.98
R6038:Egln3 UTSW 12 54,228,476 (GRCm39) missense probably damaging 0.98
R6732:Egln3 UTSW 12 54,227,427 (GRCm39) missense probably benign
R6944:Egln3 UTSW 12 54,230,738 (GRCm39) missense probably benign 0.00
R7508:Egln3 UTSW 12 54,227,414 (GRCm39) missense probably benign 0.28
R8204:Egln3 UTSW 12 54,250,010 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCCCGGCAAGAAAACATG -3'
(R):5'- TGTTCTAAGCTAAGCATGGTGG -3'

Sequencing Primer
(F):5'- GTCCCGGCAAGAAAACATGAAGTAC -3'
(R):5'- GACCATGAATTTGAGGTCAGCTTGAC -3'
Posted On 2016-11-09