Incidental Mutation 'IGL02207:Edem3'
ID 284550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edem3
Ensembl Gene ENSMUSG00000043019
Gene Name ER degradation enhancer, mannosidase alpha-like 3
Synonyms 2310050N11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # IGL02207
Quality Score
Status
Chromosome 1
Chromosomal Location 151631122-151697802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151684111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 733 (I733V)
Ref Sequence ENSEMBL: ENSMUSP00000140443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059498] [ENSMUST00000187951] [ENSMUST00000188145] [ENSMUST00000191070]
AlphaFold Q2HXL6
Predicted Effect possibly damaging
Transcript: ENSMUST00000059498
AA Change: I733V

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: I733V

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: I715V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: I715V

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: I733V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: I733V

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: I714V

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: I714V

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
Coding Region Coverage
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Cert1 T C 13: 96,761,300 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
H2-D1 T A 17: 35,482,390 (GRCm39) S37T possibly damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Herc4 G A 10: 63,135,023 (GRCm39) probably null Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdia4 A T 6: 47,773,741 (GRCm39) M536K probably benign Het
Pdyn A T 2: 129,530,438 (GRCm39) L77H probably damaging Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tbc1d12 A T 19: 38,905,091 (GRCm39) D602V probably damaging Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null 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
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
R4723:Edem3 UTSW 1 151,680,449 (GRCm39) missense possibly damaging 0.95
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
Posted On 2015-04-16