Incidental Mutation 'R4723:Edem3'
ID 354574
Institutional Source Beutler Lab
Gene Symbol Edem3
Ensembl Gene ENSMUSG00000043019
Gene Name ER degradation enhancer, mannosidase alpha-like 3
Synonyms 2310050N11Rik
MMRRC Submission 041959-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R4723 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 151631122-151697802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151680449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 525 (F525I)
Ref Sequence ENSEMBL: ENSMUSP00000140234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059498] [ENSMUST00000187951] [ENSMUST00000188145] [ENSMUST00000191070]
AlphaFold Q2HXL6
Predicted Effect possibly damaging
Transcript: ENSMUST00000059498
AA Change: F525I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: F525I

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Glyco_hydro_47 60 499 3.5e-118 PFAM
low complexity region 635 648 N/A INTRINSIC
Pfam:PA 672 778 9.4e-16 PFAM
low complexity region 838 855 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000187951
AA Change: F525I

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: F525I

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Glyco_hydro_47 60 499 1.8e-147 PFAM
low complexity region 617 630 N/A INTRINSIC
Pfam:PA 658 762 1.6e-17 PFAM
low complexity region 820 837 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000188145
AA Change: F525I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: F525I

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
Pfam:Glyco_hydro_47 60 499 3.3e-144 PFAM
low complexity region 635 648 N/A INTRINSIC
Pfam:PA 676 780 4.3e-15 PFAM
low complexity region 854 871 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000191070
AA Change: F525I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: F525I

DomainStartEndE-ValueType
signal peptide 1 42 N/A INTRINSIC
Pfam:Glyco_hydro_47 60 499 3e-144 PFAM
low complexity region 616 629 N/A INTRINSIC
Pfam:PA 657 761 4.1e-15 PFAM
low complexity region 824 841 N/A INTRINSIC
Meta Mutation Damage Score 0.1492 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 94% (77/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,581,644 (GRCm39) D4800G probably benign Het
Akna T C 4: 63,305,269 (GRCm39) D499G probably benign Het
Arid1b A C 17: 5,387,565 (GRCm39) I1673L probably benign Het
Bcr T A 10: 75,011,161 (GRCm39) M24K probably benign Het
Bsn A G 9: 107,989,854 (GRCm39) V1966A probably benign Het
Ccdc39 T C 3: 33,867,227 (GRCm39) N928S possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc6 G A 11: 98,799,657 (GRCm39) probably null Het
Cfap97d2 A T 8: 13,785,937 (GRCm39) N69I probably damaging Het
Cmtm1 C T 8: 105,020,307 (GRCm39) A371T probably damaging Het
Cmtm7 A C 9: 114,592,459 (GRCm39) V46G possibly damaging Het
Cmtr1 A G 17: 29,906,131 (GRCm39) probably null Het
Col5a3 T C 9: 20,720,887 (GRCm39) H149R unknown Het
Coro7 T G 16: 4,449,858 (GRCm39) Q634P probably benign Het
Crym A G 7: 119,800,298 (GRCm39) probably null Het
Csmd3 A T 15: 47,532,556 (GRCm39) F2546L probably benign Het
Dmap1 T C 4: 117,533,236 (GRCm39) T273A probably benign Het
Dnah1 T C 14: 30,994,899 (GRCm39) Y2786C probably damaging Het
Echs1 A C 7: 139,690,561 (GRCm39) probably benign Het
Exosc3 T C 4: 45,319,642 (GRCm39) I127V probably benign Het
Fam193a A G 5: 34,578,130 (GRCm39) D208G probably benign Het
Farp2 T C 1: 93,508,621 (GRCm39) V773A probably benign Het
Gas6 A G 8: 13,516,848 (GRCm39) V550A probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm2423 A G 13: 13,406,961 (GRCm39) noncoding transcript Het
Grin1 T C 2: 25,184,482 (GRCm39) S911G probably benign Het
Hkdc1 T C 10: 62,236,133 (GRCm39) I470V probably benign Het
Hsdl2 T A 4: 59,593,270 (GRCm39) probably benign Het
Iars2 A G 1: 185,048,176 (GRCm39) Y519H probably damaging Het
Ikbkb A T 8: 23,159,623 (GRCm39) M455K probably benign Het
Keap1 G T 9: 21,142,706 (GRCm39) H516Q probably benign Het
Klk1b27 A T 7: 43,705,956 (GRCm39) I220F probably damaging Het
Knop1 G A 7: 118,455,087 (GRCm39) probably benign Het
Lhcgr T C 17: 89,050,030 (GRCm39) T499A probably benign Het
Lrch3 A T 16: 32,808,854 (GRCm39) probably null Het
Lrrc2 G A 9: 110,799,228 (GRCm39) probably null Het
Lrrk2 T C 15: 91,648,962 (GRCm39) L1652P probably damaging Het
Mbl1 T C 14: 40,876,515 (GRCm39) V71A possibly damaging Het
Med8 T A 4: 118,268,998 (GRCm39) M1K probably null Het
Mfsd2b A G 12: 4,918,992 (GRCm39) L88P probably benign Het
Mkrn2 T A 6: 115,588,811 (GRCm39) C185S probably damaging Het
Myo1d A G 11: 80,670,667 (GRCm39) probably benign Het
Napg T G 18: 63,125,563 (GRCm39) probably null Het
Ncor1 A G 11: 62,269,438 (GRCm39) M253T probably benign Het
Oas3 T C 5: 120,904,321 (GRCm39) T518A unknown Het
Obox3-ps8 A G 17: 36,764,036 (GRCm39) noncoding transcript Het
Opn5 A T 17: 42,918,091 (GRCm39) M57K probably damaging Het
Or10a3n A T 7: 108,493,028 (GRCm39) F195L probably benign Het
Or13j1 T C 4: 43,705,785 (GRCm39) K261R probably damaging Het
Or52p1 T C 7: 104,267,696 (GRCm39) V270A possibly damaging Het
Pde2a C G 7: 101,143,825 (GRCm39) P148R possibly damaging Het
Prss56 C T 1: 87,113,059 (GRCm39) L158F possibly damaging Het
Psmg3 G A 5: 139,812,125 (GRCm39) probably benign Het
Rnase9 C T 14: 51,276,901 (GRCm39) G26R probably damaging Het
Skint4 T C 4: 111,975,433 (GRCm39) V131A possibly damaging Het
Slc10a4 T A 5: 73,169,398 (GRCm39) V341E probably damaging Het
Slc16a14 T C 1: 84,890,741 (GRCm39) Y188C probably damaging Het
Slc7a1 G T 5: 148,272,250 (GRCm39) P476T probably damaging Het
Smchd1 A T 17: 71,743,742 (GRCm39) C474* probably null Het
Smurf1 A T 5: 144,829,994 (GRCm39) D336E probably damaging Het
Sox30 G A 11: 45,875,592 (GRCm39) S448N probably benign Het
Spag11a G A 8: 19,209,398 (GRCm39) V63I possibly damaging Het
Sprr1b T G 3: 92,344,600 (GRCm39) K92T probably damaging Het
Stam2 T C 2: 52,610,962 (GRCm39) Y20C probably benign Het
Sult2b1 T A 7: 45,391,489 (GRCm39) Y97F probably damaging Het
Tecpr2 C T 12: 110,899,410 (GRCm39) P593S probably benign Het
Tek T C 4: 94,687,397 (GRCm39) V170A possibly damaging Het
Tiam2 A G 17: 3,500,592 (GRCm39) Y891C probably benign Het
Tmem220 A G 11: 66,920,819 (GRCm39) T75A possibly damaging Het
Traf3 T G 12: 111,228,470 (GRCm39) D560E probably damaging Het
Txlnb A G 10: 17,675,015 (GRCm39) H56R probably benign Het
Vmn2r98 A T 17: 19,286,602 (GRCm39) N367Y probably benign Het
Vnn3 A G 10: 23,727,589 (GRCm39) I36M possibly damaging Het
Zbtb7a G A 10: 80,980,274 (GRCm39) R156H probably damaging Het
Other mutations in Edem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Edem3 APN 1 151,694,264 (GRCm39) missense probably benign
IGL01065:Edem3 APN 1 151,653,302 (GRCm39) missense probably damaging 1.00
IGL01351:Edem3 APN 1 151,668,136 (GRCm39) missense possibly damaging 0.95
IGL01451:Edem3 APN 1 151,694,379 (GRCm39) missense probably benign 0.21
IGL01831:Edem3 APN 1 151,671,833 (GRCm39) missense probably damaging 0.97
IGL02096:Edem3 APN 1 151,680,470 (GRCm39) missense probably benign 0.00
IGL02207:Edem3 APN 1 151,684,111 (GRCm39) missense possibly damaging 0.77
IGL02507:Edem3 APN 1 151,687,407 (GRCm39) missense probably benign 0.20
IGL02690:Edem3 APN 1 151,680,550 (GRCm39) missense probably damaging 1.00
Abel UTSW 1 151,687,270 (GRCm39) missense probably damaging 1.00
adam UTSW 1 151,687,347 (GRCm39) nonsense probably null
eve UTSW 1 151,688,365 (GRCm39) splice site probably null
R0421:Edem3 UTSW 1 151,668,189 (GRCm39) splice site probably benign
R1463:Edem3 UTSW 1 151,683,261 (GRCm39) missense possibly damaging 0.81
R1934:Edem3 UTSW 1 151,680,034 (GRCm39) missense probably damaging 1.00
R1958:Edem3 UTSW 1 151,680,076 (GRCm39) missense probably damaging 1.00
R2090:Edem3 UTSW 1 151,680,577 (GRCm39) splice site probably benign
R2126:Edem3 UTSW 1 151,670,482 (GRCm39) missense possibly damaging 0.76
R2191:Edem3 UTSW 1 151,672,634 (GRCm39) missense probably damaging 1.00
R2211:Edem3 UTSW 1 151,680,453 (GRCm39) missense possibly damaging 0.74
R4005:Edem3 UTSW 1 151,635,506 (GRCm39) missense probably damaging 1.00
R4018:Edem3 UTSW 1 151,680,577 (GRCm39) splice site probably benign
R4818:Edem3 UTSW 1 151,668,136 (GRCm39) missense possibly damaging 0.95
R4871:Edem3 UTSW 1 151,679,982 (GRCm39) splice site probably null
R5205:Edem3 UTSW 1 151,687,270 (GRCm39) missense probably damaging 1.00
R5347:Edem3 UTSW 1 151,683,202 (GRCm39) missense probably damaging 0.97
R5910:Edem3 UTSW 1 151,646,578 (GRCm39) splice site probably null
R7021:Edem3 UTSW 1 151,631,423 (GRCm39) missense probably benign 0.01
R7366:Edem3 UTSW 1 151,688,365 (GRCm39) splice site probably null
R7481:Edem3 UTSW 1 151,683,974 (GRCm39) missense possibly damaging 0.46
R7481:Edem3 UTSW 1 151,683,973 (GRCm39) missense probably damaging 0.98
R7734:Edem3 UTSW 1 151,694,336 (GRCm39) missense probably benign 0.00
R7773:Edem3 UTSW 1 151,687,347 (GRCm39) nonsense probably null
R7828:Edem3 UTSW 1 151,687,386 (GRCm39) missense possibly damaging 0.51
R8556:Edem3 UTSW 1 151,660,586 (GRCm39) missense possibly damaging 0.77
R8559:Edem3 UTSW 1 151,694,169 (GRCm39) missense probably benign 0.27
R8724:Edem3 UTSW 1 151,651,624 (GRCm39) missense possibly damaging 0.79
R9193:Edem3 UTSW 1 151,694,270 (GRCm39) missense probably benign 0.00
R9201:Edem3 UTSW 1 151,694,324 (GRCm39) missense probably benign
X0028:Edem3 UTSW 1 151,694,313 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CTCAGTTAATATGCTTGGTAGGAGG -3'
(R):5'- TCTCAGTATCTCTGGTCGAAGTG -3'

Sequencing Primer
(F):5'- AGGAGGGGTTACTTACAATATTGTC -3'
(R):5'- TCTCTGGTCGAAGTGAAAAGTC -3'
Posted On 2015-10-21