Incidental Mutation 'IGL01831:Edem3'
ID 154783
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: 0.394) question?
Stock # IGL01831
Quality Score
Status
Chromosome 1
Chromosomal Location 151631122-151697802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151671833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 394 (F394S)
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: F394S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: F394S

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 probably damaging
Transcript: ENSMUST00000187951
AA Change: F394S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: F394S

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 probably damaging
Transcript: ENSMUST00000188145
AA Change: F394S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: F394S

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: F394S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: F394S

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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,903,187 (GRCm39) D596Y probably damaging Het
Atr A G 9: 95,752,807 (GRCm39) R626G probably benign Het
Galk2 C A 2: 125,817,277 (GRCm39) N344K probably benign Het
Gm20507 T C 17: 33,861,038 (GRCm39) probably benign Het
Igkv2-112 A T 6: 68,197,481 (GRCm39) Y50F possibly damaging Het
Itgb1bp1 A T 12: 21,329,469 (GRCm39) F2I unknown Het
Klhl6 C T 16: 19,772,235 (GRCm39) C370Y probably damaging Het
Or56b1 T G 7: 104,285,267 (GRCm39) Y129D probably damaging Het
Or6c70 T C 10: 129,709,900 (GRCm39) H242R probably damaging Het
Pja2 A T 17: 64,616,402 (GRCm39) H164Q probably benign Het
Plau T A 14: 20,887,838 (GRCm39) probably benign Het
Snx4 C T 16: 33,104,792 (GRCm39) R247* 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
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
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 2014-02-04