Incidental Mutation 'R5976:Edem1'
ID 471758
Institutional Source Beutler Lab
Gene Symbol Edem1
Ensembl Gene ENSMUSG00000030104
Gene Name ER degradation enhancer, mannosidase alpha-like 1
Synonyms A130059K23Rik
MMRRC Submission 044158-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R5976 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 108805602-108836317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108819923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 236 (I236K)
Ref Sequence ENSEMBL: ENSMUSP00000144901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089162] [ENSMUST00000204804]
AlphaFold Q925U4
Predicted Effect probably damaging
Transcript: ENSMUST00000089162
AA Change: I236K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: I236K

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: ENSMUST00000203469
Predicted Effect probably damaging
Transcript: ENSMUST00000204804
AA Change: I236K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: I236K

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: 98.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Ankrd26 A T 6: 118,494,855 (GRCm39) probably null Het
Arih2 A T 9: 108,485,172 (GRCm39) *54R probably null Het
AW146154 T G 7: 41,129,721 (GRCm39) K465T probably damaging Het
Bend3 A G 10: 43,386,540 (GRCm39) Y311C probably benign Het
Bltp2 G A 11: 78,174,955 (GRCm39) A1697T probably benign Het
Ccdc110 A T 8: 46,396,536 (GRCm39) Y809F possibly damaging Het
Ccnh C T 13: 85,338,982 (GRCm39) P76L probably damaging Het
Chaf1a T A 17: 56,371,115 (GRCm39) C667S probably damaging Het
Clca3a1 A T 3: 144,452,636 (GRCm39) Y616N probably damaging Het
Cldn4 A G 5: 134,975,410 (GRCm39) C64R probably damaging Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Dclk2 C A 3: 86,694,532 (GRCm39) R752L possibly damaging Het
Dzank1 C A 2: 144,343,409 (GRCm39) G318W probably damaging Het
Eif4e1b T C 13: 54,932,635 (GRCm39) F75L probably damaging Het
Elmo3 A G 8: 106,034,279 (GRCm39) Y266C probably damaging Het
Enpep A G 3: 129,092,773 (GRCm39) S509P probably damaging Het
Exoc8 A G 8: 125,623,392 (GRCm39) M325T probably benign Het
Fah A G 7: 84,243,949 (GRCm39) M270T probably benign Het
Gabbr1 T C 17: 37,378,754 (GRCm39) L532P probably damaging Het
Gm10770 T A 2: 150,021,320 (GRCm39) K66* probably null Het
Gprc5c A T 11: 114,755,313 (GRCm39) Q330L possibly damaging Het
Grin3a T A 4: 49,792,602 (GRCm39) H377L probably damaging Het
Hipk3 T C 2: 104,301,529 (GRCm39) E221G probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Ighv1-7 T A 12: 114,502,379 (GRCm39) E29D probably benign Het
Ing3 T A 6: 21,971,173 (GRCm39) S326T probably benign Het
Ipo7 T C 7: 109,648,014 (GRCm39) L632P probably damaging Het
Kdm6b A G 11: 69,294,614 (GRCm39) probably null Het
Kif21a T G 15: 90,820,015 (GRCm39) D1583A probably damaging Het
Lama2 C T 10: 27,066,672 (GRCm39) V1070I probably benign Het
Lrp1 A T 10: 127,419,770 (GRCm39) S946R probably damaging Het
Lrrc37a A G 11: 103,389,897 (GRCm39) S1843P possibly damaging Het
Ltbp1 T C 17: 75,597,078 (GRCm39) Y517H probably damaging Het
Map2k4 T A 11: 65,600,778 (GRCm39) N51I probably benign Het
Mfsd2b G T 12: 4,916,522 (GRCm39) A216D probably damaging Het
Nbea T C 3: 55,761,268 (GRCm39) T2025A probably benign Het
Neb A G 2: 52,106,928 (GRCm39) V4162A possibly damaging Het
Nr3c1 A T 18: 39,554,602 (GRCm39) F599I probably damaging Het
Nsun2 T G 13: 69,771,271 (GRCm39) probably null Het
Or10ab4 T A 7: 107,655,005 (GRCm39) M272K possibly damaging Het
Or8b37 G T 9: 37,958,997 (GRCm39) V160F possibly damaging Het
Otoa T A 7: 120,726,936 (GRCm39) W524R probably benign Het
Paip1 T A 13: 119,593,533 (GRCm39) D182E probably damaging Het
Pde1a G A 2: 79,698,586 (GRCm39) Q415* probably null Het
Pfkfb2 T A 1: 130,635,816 (GRCm39) K72* probably null Het
Pigg A G 5: 108,480,057 (GRCm39) E444G probably null Het
Plec T C 15: 76,073,237 (GRCm39) Y669C probably damaging Het
Ptp4a3 T C 15: 73,627,885 (GRCm39) V94A possibly damaging Het
Ptprg A G 14: 12,211,625 (GRCm38) E969G probably damaging Het
R3hcc1l T A 19: 42,551,789 (GRCm39) V262E probably benign Het
Ranbp3l T G 15: 9,030,916 (GRCm39) F65C possibly damaging Het
Rbm19 T A 5: 120,278,372 (GRCm39) S718R probably benign Het
Recql4 C A 15: 76,593,624 (GRCm39) R162L probably benign Het
Rest T C 5: 77,416,119 (GRCm39) L111P probably benign Het
Rgma T C 7: 73,059,216 (GRCm39) S13P probably damaging Het
Rogdi T A 16: 4,831,175 (GRCm39) I31F probably benign Het
Serpinb9e T A 13: 33,439,112 (GRCm39) D179E probably benign Het
Slc1a5 T C 7: 16,529,807 (GRCm39) C409R probably damaging Het
Slc25a38 A G 9: 119,945,613 (GRCm39) T38A probably damaging Het
Spag17 C T 3: 100,003,107 (GRCm39) Q1897* probably null Het
St7 C A 6: 17,694,221 (GRCm39) A4E possibly damaging Het
Tbcel T A 9: 42,350,499 (GRCm39) I263F possibly damaging Het
Tmtc3 A G 10: 100,312,534 (GRCm39) V103A probably benign Het
Tnc G A 4: 63,936,403 (GRCm39) P178S probably benign Het
Vwf A G 6: 125,580,426 (GRCm39) D558G Het
Zfp541 A G 7: 15,810,344 (GRCm39) K127R 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
R5542:Edem1 UTSW 6 108,831,290 (GRCm39) missense possibly damaging 0.92
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'- TGCTGAGTCAGGTCCTTCTG -3'
(R):5'- AGGCCCATCCCTTTTATAAGTC -3'

Sequencing Primer
(F):5'- GAGTCAGGTCCTTCTGCTCCAG -3'
(R):5'- GGTAACTCATGCCTGCAATG -3'
Posted On 2017-03-31