Incidental Mutation 'R7481:Edem3'
ID 579777
Institutional Source Beutler Lab
Gene Symbol Edem3
Ensembl Gene ENSMUSG00000043019
Gene Name ER degradation enhancer, mannosidase alpha-like 3
Synonyms 2310050N11Rik
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 151631122-151697802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151683973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 687 (S687C)
Ref Sequence ENSEMBL: ENSMUSP00000058941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059498] [ENSMUST00000187951] [ENSMUST00000188145] [ENSMUST00000191070]
AlphaFold Q2HXL6
Predicted Effect probably damaging
Transcript: ENSMUST00000059498
AA Change: S687C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: S687C

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: S669C

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: S669C

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: S687C

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: S687C

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 probably damaging
Transcript: ENSMUST00000191070
AA Change: S668C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: S668C

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 0.1032 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign 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
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
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'- TGAGACTGATGATTGACCTATAGC -3'
(R):5'- TCTACTCTGCCCAATACGGTG -3'

Sequencing Primer
(F):5'- CCTATAGCTTTTGTAGGTGTGCACAC -3'
(R):5'- TGCCCAATACGGTGACCCAG -3'
Posted On 2019-10-07