Incidental Mutation 'IGL00963:Engase'
ID 28605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Engase
Ensembl Gene ENSMUSG00000033857
Gene Name endo-beta-N-acetylglucosaminidase
Synonyms D230014K01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL00963
Quality Score
Status
Chromosome 11
Chromosomal Location 118367655-118380035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118373824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 322 (D322G)
Ref Sequence ENSEMBL: ENSMUSP00000117538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043447] [ENSMUST00000135383] [ENSMUST00000139917] [ENSMUST00000166995] [ENSMUST00000171769] [ENSMUST00000172279] [ENSMUST00000168689]
AlphaFold Q8BX80
Predicted Effect probably benign
Transcript: ENSMUST00000043447
Predicted Effect probably damaging
Transcript: ENSMUST00000135383
AA Change: D322G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: D322G

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000172279
Predicted Effect probably benign
Transcript: ENSMUST00000168689
SMART Domains Protein: ENSMUSP00000125886
Gene: ENSMUSG00000033857

DomainStartEndE-ValueType
PDB:3FHA|D 13 143 1e-5 PDB
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,582,228 (GRCm39) probably benign Het
Alyref2 C T 1: 171,331,816 (GRCm39) Q198* probably null Het
Ankrd13a T C 5: 114,939,863 (GRCm39) S497P probably damaging Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Col13a1 T C 10: 61,674,476 (GRCm39) probably benign Het
Ctnna3 T A 10: 64,781,728 (GRCm39) D730E probably damaging Het
Dock11 A G X: 35,296,035 (GRCm39) Q1197R possibly damaging Het
Drosha T A 15: 12,926,083 (GRCm39) I1224N probably damaging Het
Dsc1 T C 18: 20,245,043 (GRCm39) K42R probably null Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Fgfr2 C T 7: 129,830,491 (GRCm39) M47I probably damaging Het
Gad1-ps G T 10: 99,281,310 (GRCm39) noncoding transcript Het
Gatb A G 3: 85,526,255 (GRCm39) S378G probably benign Het
Hivep2 G A 10: 14,005,091 (GRCm39) S563N probably damaging Het
Irs2 G A 8: 11,055,867 (GRCm39) A855V probably benign Het
Jagn1 T C 6: 113,424,436 (GRCm39) S103P probably damaging Het
Kdm6a T A X: 18,112,665 (GRCm39) probably benign Het
Lmcd1 T C 6: 112,306,895 (GRCm39) C356R probably damaging Het
Mefv T A 16: 3,533,584 (GRCm39) Y229F possibly damaging Het
Myef2 T C 2: 124,957,395 (GRCm39) Y120C probably damaging Het
Myo9a T G 9: 59,807,655 (GRCm39) I2074S probably damaging Het
Nhs A G X: 160,630,045 (GRCm39) S337P probably damaging Het
Nphp4 T G 4: 152,622,318 (GRCm39) H566Q probably benign Het
Or2d2 A T 7: 106,728,272 (GRCm39) C109* probably null Het
Or52z13 T A 7: 103,246,844 (GRCm39) probably null Het
Pabpc2 C A 18: 39,908,390 (GRCm39) Q552K possibly damaging Het
Podn T A 4: 107,879,371 (GRCm39) N104I probably damaging Het
Rit1 T C 3: 88,633,738 (GRCm39) V94A probably damaging Het
Scn7a A T 2: 66,534,289 (GRCm39) probably benign Het
Septin4 A T 11: 87,474,199 (GRCm39) K29M possibly damaging Het
Sowahb T C 5: 93,191,870 (GRCm39) Y283C probably damaging Het
Srbd1 A T 17: 86,422,637 (GRCm39) W460R probably damaging Het
Svep1 T A 4: 58,072,791 (GRCm39) K2173* probably null Het
Tlr6 T C 5: 65,112,019 (GRCm39) N296S possibly damaging Het
Trpm8 A G 1: 88,307,549 (GRCm39) D1073G possibly damaging Het
Ttc28 A T 5: 111,434,255 (GRCm39) K2399* probably null Het
Ttn A G 2: 76,717,627 (GRCm39) probably benign Het
Uroc1 C T 6: 90,315,810 (GRCm39) T189I probably benign Het
Usp18 C T 6: 121,232,341 (GRCm39) Q122* probably null Het
Zfp420 T C 7: 29,574,518 (GRCm39) I246T probably damaging Het
Zfp644 T C 5: 106,786,503 (GRCm39) probably null Het
Zfp871 A T 17: 32,993,726 (GRCm39) V483E probably benign Het
Other mutations in Engase
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Engase APN 11 118,373,796 (GRCm39) missense possibly damaging 0.91
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
R4775:Engase UTSW 11 118,373,497 (GRCm39) missense probably benign 0.22
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
Posted On 2013-04-17