Incidental Mutation 'R4775:Engase'
ID 367865
Institutional Source Beutler Lab
Gene Symbol Engase
Ensembl Gene ENSMUSG00000033857
Gene Name endo-beta-N-acetylglucosaminidase
Synonyms D230014K01Rik
MMRRC Submission 041991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4775 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 118367655-118380035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118373497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 280 (D280V)
Ref Sequence ENSEMBL: ENSMUSP00000117538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043447] [ENSMUST00000135383] [ENSMUST00000139917] [ENSMUST00000166995] [ENSMUST00000168689] [ENSMUST00000172279] [ENSMUST00000171769]
AlphaFold Q8BX80
Predicted Effect probably benign
Transcript: ENSMUST00000043447
Predicted Effect probably benign
Transcript: ENSMUST00000135383
AA Change: D280V

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: D280V

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 102 120 N/A INTRINSIC
Pfam:Glyco_hydro_85 127 404 2.6e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139813
Predicted Effect probably benign
Transcript: ENSMUST00000139917
SMART Domains Protein: ENSMUSP00000129698
Gene: ENSMUSG00000033857

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 79 92 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153825
Predicted Effect probably benign
Transcript: ENSMUST00000166995
SMART Domains Protein: ENSMUSP00000127862
Gene: ENSMUSG00000033857

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 102 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168785
Predicted Effect probably benign
Transcript: ENSMUST00000168689
SMART Domains Protein: ENSMUSP00000125886
Gene: ENSMUSG00000033857

DomainStartEndE-ValueType
PDB:3FHA|D 13 143 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000172279
Predicted Effect probably benign
Transcript: ENSMUST00000171769
SMART Domains Protein: ENSMUSP00000132734
Gene: ENSMUSG00000033857

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 79 92 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozgyous for knock-out alleles of this gene and Ngly1 exhibit restored endoplasmic reticulum (ER)-associated degradation (ERAD) process compared with MEFs lacking only Ngly1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,134,165 (GRCm39) Y426C probably damaging Het
Adam7 A G 14: 68,745,361 (GRCm39) I621T probably benign Het
Adamts1 A T 16: 85,597,278 (GRCm39) Y260* probably null Het
Adgrf1 C T 17: 43,622,054 (GRCm39) L764F probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Atp9b A G 18: 80,808,984 (GRCm39) probably null Het
C5ar2 A C 7: 15,971,540 (GRCm39) L129R probably damaging Het
Ccdc174 G A 6: 91,867,875 (GRCm39) probably null Het
Cidec T C 6: 113,411,695 (GRCm39) M1V probably null Het
Clec16a G T 16: 10,456,778 (GRCm39) R663L probably damaging Het
Col25a1 T C 3: 129,976,468 (GRCm39) C118R possibly damaging Het
Cox6b2 A G 7: 4,755,074 (GRCm39) C67R probably damaging Het
Cspg4b A T 13: 113,454,229 (GRCm39) I92F possibly damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
Dapk1 T A 13: 60,897,156 (GRCm39) S792T probably benign Het
Dis3l T A 9: 64,238,190 (GRCm39) N101Y probably benign Het
Dsg4 A G 18: 20,604,184 (GRCm39) T884A possibly damaging Het
Dvl1 T C 4: 155,942,584 (GRCm39) W617R probably benign Het
Eml5 A G 12: 98,768,566 (GRCm39) V1503A probably benign Het
F11r T C 1: 171,289,209 (GRCm39) S224P probably damaging Het
Fanca A G 8: 124,023,045 (GRCm39) V564A probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gle1 T C 2: 29,826,073 (GRCm39) W51R possibly damaging Het
Gm94 A G 18: 43,925,836 (GRCm39) probably null Het
Gm9830 A T 9: 44,375,721 (GRCm39) noncoding transcript Het
Gpaa1 T A 15: 76,218,891 (GRCm39) probably null Het
Grin1 C T 2: 25,182,475 (GRCm39) A929T possibly damaging Het
Grm7 T A 6: 110,891,332 (GRCm39) D188E probably damaging Het
Gtf2ird2 T C 5: 134,242,970 (GRCm39) F395L probably benign Het
Lipo3 C A 19: 33,757,795 (GRCm39) G225C probably damaging Het
Lonrf2 T A 1: 38,857,140 (GRCm39) probably null Het
Marveld2 A G 13: 100,753,303 (GRCm39) probably benign Het
Mpl A G 4: 118,305,777 (GRCm39) L416P probably damaging Het
Mppe1 A G 18: 67,359,930 (GRCm39) L312P possibly damaging Het
Mpzl3 T A 9: 44,977,730 (GRCm39) S113T probably damaging Het
Mylk3 G A 8: 86,085,689 (GRCm39) Q149* probably null Het
Myt1 T A 2: 181,464,470 (GRCm39) I968N probably damaging Het
Ndc80 A G 17: 71,821,265 (GRCm39) Y228H probably damaging Het
Nelfcd T G 2: 174,268,369 (GRCm39) C520G probably damaging Het
Nfrkb C A 9: 31,330,345 (GRCm39) T1199K possibly damaging Het
Nipa2 A G 7: 55,585,611 (GRCm39) I109T probably benign Het
Nlrp4e A G 7: 23,042,525 (GRCm39) T804A probably benign Het
Nsf A T 11: 103,763,419 (GRCm39) I395K possibly damaging Het
Nt5c1b G A 12: 10,425,449 (GRCm39) V331I probably damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or1e29 A G 11: 73,667,377 (GRCm39) Y259H probably damaging Het
Pask T C 1: 93,265,246 (GRCm39) D3G probably damaging Het
Pglyrp3 T C 3: 91,933,037 (GRCm39) V110A possibly damaging Het
Ppp4r3a C T 12: 101,019,825 (GRCm39) V377M probably damaging Het
Prr12 A G 7: 44,700,749 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,135,922 (GRCm39) probably null Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rph3a T A 5: 121,092,551 (GRCm39) Y350F probably benign Het
Skint4 A T 4: 111,993,261 (GRCm39) H328L probably damaging Het
Smyd4 G A 11: 75,282,018 (GRCm39) C497Y probably damaging Het
Stk11ip T C 1: 75,510,497 (GRCm39) W864R possibly damaging Het
Stkld1 T A 2: 26,841,757 (GRCm39) V543E probably damaging Het
Taok2 A G 7: 126,469,940 (GRCm39) S963P probably damaging Het
Tars2 A G 3: 95,653,959 (GRCm39) L354P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn2 A G 7: 144,821,079 (GRCm39) L325P probably damaging Het
Trappc3l C G 10: 33,974,807 (GRCm39) H96Q probably benign Het
Trim66 A T 7: 109,056,796 (GRCm39) Y1120* probably null Het
Trio G A 15: 27,881,428 (GRCm39) Q548* probably null Het
Wipf2 T A 11: 98,781,558 (GRCm39) D32E probably benign Het
Other mutations in Engase
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Engase APN 11 118,373,796 (GRCm39) missense possibly damaging 0.91
IGL00963:Engase APN 11 118,373,824 (GRCm39) missense probably damaging 1.00
IGL02652:Engase APN 11 118,369,776 (GRCm39) missense probably damaging 0.99
R0135:Engase UTSW 11 118,375,304 (GRCm39) missense possibly damaging 0.68
R1337:Engase UTSW 11 118,373,400 (GRCm39) missense possibly damaging 0.46
R1435:Engase UTSW 11 118,375,727 (GRCm39) missense probably damaging 1.00
R1515:Engase UTSW 11 118,377,966 (GRCm39) missense possibly damaging 0.53
R1889:Engase UTSW 11 118,369,759 (GRCm39) missense probably damaging 1.00
R1939:Engase UTSW 11 118,370,012 (GRCm39) missense probably damaging 1.00
R4628:Engase UTSW 11 118,375,731 (GRCm39) missense probably damaging 1.00
R4730:Engase UTSW 11 118,373,748 (GRCm39) missense probably damaging 1.00
R4762:Engase UTSW 11 118,377,920 (GRCm39) missense possibly damaging 0.89
R5155:Engase UTSW 11 118,372,107 (GRCm39) missense probably benign 0.25
R5271:Engase UTSW 11 118,372,223 (GRCm39) missense probably damaging 0.99
R5688:Engase UTSW 11 118,378,146 (GRCm39) missense possibly damaging 0.91
R6659:Engase UTSW 11 118,372,142 (GRCm39) missense probably benign 0.07
R7104:Engase UTSW 11 118,372,121 (GRCm39) missense probably damaging 0.98
R7233:Engase UTSW 11 118,373,827 (GRCm39) missense probably damaging 1.00
R7961:Engase UTSW 11 118,377,686 (GRCm39) missense possibly damaging 0.67
R8047:Engase UTSW 11 118,377,282 (GRCm39) missense probably benign
Z1177:Engase UTSW 11 118,376,583 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCATGACAGTAGTGCCCAGC -3'
(R):5'- TAAAGAAGCCATCGCAGGAGTC -3'

Sequencing Primer
(F):5'- AGCCTCGCAACGGTCTCATC -3'
(R):5'- TCGCAGGAGTCAAAGAAGACCC -3'
Posted On 2015-12-29