Incidental Mutation 'R5542:Edem1'
ID 436027
Institutional Source Beutler Lab
Gene Symbol Edem1
Ensembl Gene ENSMUSG00000030104
Gene Name ER degradation enhancer, mannosidase alpha-like 1
Synonyms A130059K23Rik
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 108805602-108836317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108831290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 584 (R584C)
Ref Sequence ENSEMBL: ENSMUSP00000086565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089162] [ENSMUST00000204804]
AlphaFold Q925U4
Predicted Effect possibly damaging
Transcript: ENSMUST00000089162
AA Change: R584C

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: R584C

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L 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
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
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'- AGGACTTAGTAGAGCTGTATGCC -3'
(R):5'- ATGTGCCTATACTGCTGCTC -3'

Sequencing Primer
(F):5'- TTCATGCAGTGGCTAGCCTAGAAC -3'
(R):5'- GAGTATGCCACCTACTTCATGTGAG -3'
Posted On 2016-10-24