Incidental Mutation 'R2393:Edem1'
ID 247856
Institutional Source Beutler Lab
Gene Symbol Edem1
Ensembl Gene ENSMUSG00000030104
Gene Name ER degradation enhancer, mannosidase alpha-like 1
Synonyms A130059K23Rik
MMRRC Submission 040361-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R2393 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 108805602-108836317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 108829504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 541 (M541R)
Ref Sequence ENSEMBL: ENSMUSP00000086565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089162] [ENSMUST00000204804]
AlphaFold Q925U4
Predicted Effect probably damaging
Transcript: ENSMUST00000089162
AA Change: M541R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: M541R

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 noncoding transcript
Transcript: ENSMUST00000203302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204524
Predicted Effect probably benign
Transcript: ENSMUST00000204804
SMART Domains Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104

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
Meta Mutation Damage Score 0.9737 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,225,057 (GRCm39) L512* probably null Het
Adam4 A T 12: 81,467,485 (GRCm39) F379I probably benign Het
Ano6 C G 15: 95,863,906 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arfgef3 A G 10: 18,473,535 (GRCm39) V1588A possibly damaging Het
Arl8a T A 1: 135,080,604 (GRCm39) V93E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cd200r2 T A 16: 44,729,630 (GRCm39) I95N probably damaging Het
Cd209d A G 8: 3,928,436 (GRCm39) probably null Het
Cep290 A G 10: 100,397,100 (GRCm39) probably null Het
Chd2 G T 7: 73,157,631 (GRCm39) D171E possibly damaging Het
Chrna7 G A 7: 62,748,994 (GRCm39) A496V probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Colgalt1 C G 8: 72,076,385 (GRCm39) T612S probably benign Het
Copg2 T C 6: 30,787,893 (GRCm39) K602E probably benign Het
Crtc1 T A 8: 70,840,808 (GRCm39) T473S probably benign Het
Ctbp2 A T 7: 132,625,290 (GRCm39) probably null Het
Ehmt1 A C 2: 24,696,229 (GRCm39) V953G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgfr2 T C 7: 129,828,968 (GRCm39) probably null Het
Focad A G 4: 88,039,567 (GRCm39) D10G probably damaging Het
Gfus G T 15: 75,798,200 (GRCm39) L191I probably damaging Het
Gm5901 G T 7: 105,026,996 (GRCm39) V255F possibly damaging Het
Hsp90aa1 T C 12: 110,659,840 (GRCm39) N416S probably damaging Het
Hspb1 T C 5: 135,917,950 (GRCm39) F142L probably benign Het
Il17re C T 6: 113,439,314 (GRCm39) H75Y possibly damaging Het
Kctd3 A G 1: 188,713,568 (GRCm39) I389T probably damaging Het
Lhx6 T C 2: 35,981,402 (GRCm39) D63G probably benign Het
Mepe A G 5: 104,485,327 (GRCm39) T156A possibly damaging Het
Met A G 6: 17,534,197 (GRCm39) Y680C probably damaging Het
Mrgpra3 T C 7: 47,239,365 (GRCm39) Y187C possibly damaging Het
Mst1 T G 9: 107,960,151 (GRCm39) probably null Het
Myh13 T A 11: 67,231,184 (GRCm39) S394T possibly damaging Het
Nbeal1 T A 1: 60,290,529 (GRCm39) V1042E probably damaging Het
Ndrg4 T A 8: 96,432,839 (GRCm39) Y15* probably null Het
Neurl4 G A 11: 69,797,900 (GRCm39) R720H probably damaging Het
Nfkbia A G 12: 55,537,455 (GRCm39) probably benign Het
Nwd1 T A 8: 73,389,055 (GRCm39) M202K probably benign Het
Or10d4 G T 9: 39,580,569 (GRCm39) C72F possibly damaging Het
Or2av9 T A 11: 58,381,546 (GRCm39) I12F probably benign Het
Pate2 T C 9: 35,581,036 (GRCm39) probably benign Het
Pibf1 A G 14: 99,480,368 (GRCm39) T715A probably benign Het
Pitpnm1 T C 19: 4,160,935 (GRCm39) L858P probably benign Het
Pla2g3 A C 11: 3,443,115 (GRCm39) S483R probably benign Het
Rad51ap2 T A 12: 11,507,798 (GRCm39) D573E probably damaging Het
Rho T C 6: 115,912,352 (GRCm39) probably benign Het
Rpl39l A T 16: 9,992,328 (GRCm39) *52L probably null Het
Slco1a5 T A 6: 142,194,501 (GRCm39) R381W possibly damaging Het
Spns3 T A 11: 72,441,059 (GRCm39) probably benign Het
Srgap2 A G 1: 131,259,872 (GRCm39) S493P probably benign Het
Tecpr2 T C 12: 110,892,836 (GRCm39) S293P probably damaging Het
Ttn C T 2: 76,583,211 (GRCm39) V20815M probably benign Het
Ushbp1 T C 8: 71,847,132 (GRCm39) I167V probably benign Het
Wdr81 C T 11: 75,340,231 (GRCm39) A1296T probably damaging Het
Zmym2 A G 14: 57,158,180 (GRCm39) Y573C probably benign 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
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
R8135:Edem1 UTSW 6 108,806,022 (GRCm39) nonsense probably null
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'- ATGACGCAATCCAAGAATGCTTTC -3'
(R):5'- GACAAGGCCTGTAACTCCAG -3'

Sequencing Primer
(F):5'- GCCCTAGCAAAGTTATTTTCATGAGG -3'
(R):5'- TGTAACTCCAGGAACAGACACTGTC -3'
Posted On 2014-11-11