Incidental Mutation 'R6038:Egln3'
ID 486693
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 044208-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6038 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 54225767-54250646 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54228476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 210 (V210A)
Ref Sequence ENSEMBL: ENSMUSP00000041874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039516]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039516
AA Change: V210A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041874
Gene: ENSMUSG00000035105
AA Change: V210A

DomainStartEndE-ValueType
P4Hc 26 213 9.48e-47 SMART
Meta Mutation Damage Score 0.5608 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (65/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,615,286 (GRCm39) C1327R probably damaging Het
Adcy7 A G 8: 89,049,608 (GRCm39) T704A probably benign Het
Adgra3 A T 5: 50,156,487 (GRCm39) Y414* probably null Het
Adgrf1 T C 17: 43,606,100 (GRCm39) S75P probably benign Het
Akirin1 A G 4: 123,643,956 (GRCm39) M1T probably null Het
Antxr1 C A 6: 87,263,982 (GRCm39) probably null Het
Arid1b A T 17: 5,386,957 (GRCm39) Y1470F probably benign Het
Baiap3 T C 17: 25,465,308 (GRCm39) D649G probably damaging Het
Cabin1 A G 10: 75,575,200 (GRCm39) V615A probably benign Het
Cntnap1 G A 11: 101,075,462 (GRCm39) R880Q probably benign Het
Col28a1 T C 6: 8,013,140 (GRCm39) T971A probably benign Het
Coro7 A T 16: 4,497,414 (GRCm39) probably null Het
Cspg4b G A 13: 113,455,153 (GRCm39) V400M possibly damaging Het
Defb19 T G 2: 152,418,187 (GRCm39) probably null Het
Dnah17 T C 11: 117,946,715 (GRCm39) D3045G probably benign Het
Dock4 A T 12: 40,783,350 (GRCm39) probably null Het
Epb41l4a T C 18: 33,987,388 (GRCm39) S330G probably benign Het
Epha7 G A 4: 28,821,521 (GRCm39) E229K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Garin4 C T 1: 190,894,919 (GRCm39) E575K probably damaging Het
Garin5a C T 7: 44,149,719 (GRCm39) R147W probably damaging Het
Garin5b T C 7: 4,756,594 (GRCm39) probably null Het
Gm29587 G A 12: 74,269,309 (GRCm39) probably null Het
Gxylt2 T A 6: 100,781,555 (GRCm39) L410Q probably damaging Het
H2-M10.3 C A 17: 36,679,287 (GRCm39) C6F probably benign Het
Hecw1 G T 13: 14,520,647 (GRCm39) Q197K probably benign Het
Hk3 T C 13: 55,154,373 (GRCm39) M778V probably benign Het
Hydin A G 8: 111,325,663 (GRCm39) T4691A probably benign Het
Larp1 A G 11: 57,932,431 (GRCm39) E204G possibly damaging Het
Lrp12 A C 15: 39,735,776 (GRCm39) W738G probably damaging Het
Mdga2 A T 12: 66,676,827 (GRCm39) D488E probably damaging Het
Mrc1 G C 2: 14,261,882 (GRCm39) W290C probably damaging Het
Mtrex A T 13: 113,027,824 (GRCm39) S679T probably benign Het
Nhp2 T C 11: 51,510,912 (GRCm39) V55A probably benign Het
Nrm T C 17: 36,172,397 (GRCm39) S41P possibly damaging Het
Or10ag54 T A 2: 87,099,611 (GRCm39) I141N possibly damaging Het
Or11g25 T C 14: 50,723,677 (GRCm39) L254P probably damaging Het
Or7e165 A G 9: 19,694,858 (GRCm39) Y143C probably benign Het
Osbpl7 C T 11: 96,941,542 (GRCm39) P22S probably benign Het
Pebp1 A T 5: 117,422,170 (GRCm39) L124Q probably benign Het
Pfkp G T 13: 6,648,005 (GRCm39) H524N probably benign Het
Pnmt G A 11: 98,278,594 (GRCm39) D187N probably damaging Het
Ppl A T 16: 4,920,445 (GRCm39) I355K possibly damaging Het
Prom1 A T 5: 44,159,135 (GRCm39) Y836N probably damaging Het
Rubcnl T C 14: 75,269,410 (GRCm39) S23P probably benign Het
Sap130 T A 18: 31,813,539 (GRCm39) I532N probably damaging Het
Serpina1e A T 12: 103,913,095 (GRCm39) probably null Het
Slc12a3 T G 8: 95,057,100 (GRCm39) S124R probably benign Het
Slc24a5 A G 2: 124,927,651 (GRCm39) T317A probably benign Het
Smarcad1 T C 6: 65,050,232 (GRCm39) S284P possibly damaging Het
Spag9 C G 11: 94,002,918 (GRCm39) R724G probably damaging Het
Speg T C 1: 75,395,103 (GRCm39) probably null Het
Steap3 A G 1: 120,169,371 (GRCm39) Y271H probably damaging Het
Syne2 C T 12: 75,925,158 (GRCm39) Q44* probably null Het
Tas2r114 A T 6: 131,666,444 (GRCm39) C195S possibly damaging Het
Tcl1b4 T C 12: 105,168,766 (GRCm39) M10T possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Vmn2r60 C A 7: 41,844,386 (GRCm39) A583D probably benign Het
Wdhd1 T C 14: 47,501,037 (GRCm39) Q455R possibly damaging Het
Wdr17 A G 8: 55,085,346 (GRCm39) probably null Het
Xbp1 T C 11: 5,474,798 (GRCm39) L233P probably benign Het
Zbtb17 A G 4: 141,191,752 (GRCm39) E288G probably benign 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
R5692:Egln3 UTSW 12 54,227,447 (GRCm39) splice site probably null
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'- TGGTTTTAAGAGCATGAGAGCC -3'
(R):5'- ATAGCATTGTTGAGTTCTGAGCTC -3'

Sequencing Primer
(F):5'- GCCAAGGCTTTAGATACCATTC -3'
(R):5'- TCTCAGAGCAGGACCCG -3'
Posted On 2017-08-16