Incidental Mutation 'R8135:Edem1'
ID 632218
Institutional Source Beutler Lab
Gene Symbol Edem1
Ensembl Gene ENSMUSG00000030104
Gene Name ER degradation enhancer, mannosidase alpha-like 1
Synonyms A130059K23Rik
MMRRC Submission 067563-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R8135 (G1)
Quality Score 99.0078
Status Not validated
Chromosome 6
Chromosomal Location 108805602-108836317 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 108806022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 108 (E108*)
Ref Sequence ENSEMBL: ENSMUSP00000086565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032196] [ENSMUST00000089162] [ENSMUST00000204804]
AlphaFold Q925U4
Predicted Effect probably benign
Transcript: ENSMUST00000032196
SMART Domains Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105

DomainStartEndE-ValueType
ARF 1 185 4.46e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000089162
AA Change: E108*
SMART Domains Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: E108*

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
low complexity region 70 92 N/A INTRINSIC
Pfam:Glyco_hydro_47 132 581 1.1e-123 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204804
AA Change: E108*
SMART Domains Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: E108*

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
low complexity region 70 92 N/A INTRINSIC
Pfam:Glyco_hydro_47 132 529 9.9e-97 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,674,712 (GRCm39) I420V probably benign Het
Adam7 A T 14: 68,754,022 (GRCm39) M359K probably damaging Het
Adra1d C T 2: 131,403,692 (GRCm39) A133T probably damaging Het
B3galnt2 T A 13: 14,145,454 (GRCm39) probably null Het
Camk1g A G 1: 193,036,335 (GRCm39) V175A possibly damaging Het
Cfi A G 3: 129,648,649 (GRCm39) N178D probably benign Het
Csf2rb T A 15: 78,232,319 (GRCm39) I542K possibly damaging Het
Ctsz T C 2: 174,270,946 (GRCm39) T183A probably benign Het
Dhx8 A G 11: 101,629,090 (GRCm39) D213G unknown Het
Dph7 T C 2: 24,859,556 (GRCm39) I271T probably benign Het
Enpp4 T C 17: 44,412,226 (GRCm39) T328A probably benign Het
Fasl A G 1: 161,614,697 (GRCm39) V122A probably benign Het
Fut2 T C 7: 45,300,566 (GRCm39) T69A probably damaging Het
Gaa T C 11: 119,169,210 (GRCm39) probably null Het
Galnt5 T A 2: 57,904,880 (GRCm39) V481D probably damaging Het
Gsdma2 A G 11: 98,542,872 (GRCm39) I211V probably benign Het
H2-M10.4 T C 17: 36,772,662 (GRCm39) T107A probably benign Het
Iqcg T A 16: 32,849,394 (GRCm39) K297N probably benign Het
Map2 A G 1: 66,452,828 (GRCm39) T573A probably damaging Het
Nhsl1 A G 10: 18,407,180 (GRCm39) D1438G probably damaging Het
Nipal2 A T 15: 34,678,719 (GRCm39) Y41N possibly damaging Het
Obscn A T 11: 58,922,703 (GRCm39) S5878T possibly damaging Het
Pde6a T C 18: 61,418,996 (GRCm39) F791L probably damaging Het
Phip A T 9: 82,812,427 (GRCm39) N308K probably benign Het
Pigc A G 1: 161,798,134 (GRCm39) K39E possibly damaging Het
Robo2 T G 16: 73,730,048 (GRCm39) I1050L probably benign Het
Rps2 A G 17: 24,939,409 (GRCm39) K54E probably benign Het
Set T A 2: 29,959,439 (GRCm39) D137E probably benign Het
Sipa1l1 A G 12: 82,388,075 (GRCm39) I100M probably benign Het
Spdye4b T C 5: 143,180,777 (GRCm39) V81A probably damaging Het
Tbc1d2 T C 4: 46,609,071 (GRCm39) D722G probably benign Het
Tecpr1 T A 5: 144,135,420 (GRCm39) D1011V probably damaging Het
Unc80 A T 1: 66,548,446 (GRCm39) I573F possibly damaging Het
Vmn1r74 T A 7: 11,581,530 (GRCm39) C277S probably benign Het
Vwa1 T A 4: 155,857,351 (GRCm39) D149V probably damaging Het
Zfp397 T A 18: 24,089,564 (GRCm39) V23E probably damaging Het
Zmynd8 T C 2: 165,654,346 (GRCm39) D722G probably damaging Het
Other mutations in Edem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Edem1 APN 6 108,832,520 (GRCm39) utr 3 prime probably benign
IGL00648:Edem1 APN 6 108,828,168 (GRCm39) splice site probably null
IGL00694:Edem1 APN 6 108,818,562 (GRCm39) missense possibly damaging 0.95
IGL02231:Edem1 APN 6 108,805,849 (GRCm39) missense probably benign 0.06
IGL02967:Edem1 APN 6 108,813,738 (GRCm39) missense probably damaging 1.00
IGL03018:Edem1 APN 6 108,806,103 (GRCm39) missense probably damaging 0.98
PIT4468001:Edem1 UTSW 6 108,821,828 (GRCm39) missense probably damaging 0.98
R0050:Edem1 UTSW 6 108,805,809 (GRCm39) missense possibly damaging 0.91
R0367:Edem1 UTSW 6 108,823,713 (GRCm39) missense probably damaging 1.00
R1165:Edem1 UTSW 6 108,828,214 (GRCm39) missense probably damaging 1.00
R1354:Edem1 UTSW 6 108,831,277 (GRCm39) missense possibly damaging 0.93
R1385:Edem1 UTSW 6 108,823,645 (GRCm39) missense probably damaging 1.00
R1588:Edem1 UTSW 6 108,818,640 (GRCm39) missense probably damaging 1.00
R1964:Edem1 UTSW 6 108,821,908 (GRCm39) missense probably benign 0.03
R2060:Edem1 UTSW 6 108,831,248 (GRCm39) missense probably damaging 0.99
R2106:Edem1 UTSW 6 108,825,686 (GRCm39) missense probably damaging 0.98
R2393:Edem1 UTSW 6 108,829,504 (GRCm39) missense probably damaging 1.00
R2443:Edem1 UTSW 6 108,828,230 (GRCm39) missense probably benign 0.13
R3732:Edem1 UTSW 6 108,818,582 (GRCm39) missense probably damaging 1.00
R3732:Edem1 UTSW 6 108,818,582 (GRCm39) missense probably damaging 1.00
R3733:Edem1 UTSW 6 108,818,582 (GRCm39) missense probably damaging 1.00
R3734:Edem1 UTSW 6 108,818,582 (GRCm39) missense probably damaging 1.00
R4754:Edem1 UTSW 6 108,818,658 (GRCm39) missense probably damaging 1.00
R4791:Edem1 UTSW 6 108,818,595 (GRCm39) missense probably damaging 1.00
R4792:Edem1 UTSW 6 108,805,707 (GRCm39) unclassified probably benign
R5326:Edem1 UTSW 6 108,831,290 (GRCm39) missense possibly damaging 0.92
R5334:Edem1 UTSW 6 108,825,793 (GRCm39) critical splice donor site probably null
R5501:Edem1 UTSW 6 108,820,061 (GRCm39) critical splice donor site probably null
R5542:Edem1 UTSW 6 108,831,290 (GRCm39) missense possibly damaging 0.92
R5976:Edem1 UTSW 6 108,819,923 (GRCm39) missense probably damaging 0.99
R6177:Edem1 UTSW 6 108,828,159 (GRCm39) splice site probably null
R6556:Edem1 UTSW 6 108,831,318 (GRCm39) missense probably benign 0.00
R6835:Edem1 UTSW 6 108,831,360 (GRCm39) missense probably benign 0.00
R7192:Edem1 UTSW 6 108,805,965 (GRCm39) missense probably benign 0.00
R7239:Edem1 UTSW 6 108,831,341 (GRCm39) missense probably benign
R7442:Edem1 UTSW 6 108,828,266 (GRCm39) nonsense probably null
R7780:Edem1 UTSW 6 108,818,589 (GRCm39) missense probably benign 0.00
R7902:Edem1 UTSW 6 108,831,338 (GRCm39) missense possibly damaging 0.88
R8103:Edem1 UTSW 6 108,829,524 (GRCm39) missense probably damaging 1.00
R8359:Edem1 UTSW 6 108,823,774 (GRCm39) missense probably benign 0.41
R9250:Edem1 UTSW 6 108,805,850 (GRCm39) missense probably benign
R9766:Edem1 UTSW 6 108,823,648 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTCAAAATAATGCCCGCG -3'
(R):5'- AAGACCCTGGTGTGTTCTCAG -3'

Sequencing Primer
(F):5'- ATGCAATGGCGAGCGCTTG -3'
(R):5'- TGTGTTCTCAGGGACCCG -3'
Posted On 2020-06-30