Incidental Mutation 'IGL02652:Engase'
ID 302204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Engase
Ensembl Gene ENSMUSG00000033857
Gene Name endo-beta-N-acetylglucosaminidase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02652
Quality Score
Status
Chromosome 11
Chromosomal Location 118476829-118489209 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118478950 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 63 (P63S)
Ref Sequence ENSEMBL: ENSMUSP00000127862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043447] [ENSMUST00000135383] [ENSMUST00000139917] [ENSMUST00000166995] [ENSMUST00000171769] [ENSMUST00000172279]
AlphaFold Q8BX80
Predicted Effect probably benign
Transcript: ENSMUST00000043447
Predicted Effect probably damaging
Transcript: ENSMUST00000135383
AA Change: P63S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: P63S

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 damaging
Transcript: ENSMUST00000139917
AA Change: P63S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129698
Gene: ENSMUSG00000033857
AA Change: P63S

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 damaging
Transcript: ENSMUST00000166995
AA Change: P63S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127862
Gene: ENSMUSG00000033857
AA Change: P63S

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 damaging
Transcript: ENSMUST00000171769
AA Change: P63S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132734
Gene: ENSMUSG00000033857
AA Change: P63S

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 79 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172279
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 67,884,800 D139E probably benign Het
Asph C T 4: 9,529,984 V347I probably benign Het
Ccdc138 A T 10: 58,513,079 D149V probably benign Het
Cep192 A G 18: 67,858,850 probably benign Het
Cnnm2 G A 19: 46,763,211 R480Q probably damaging Het
Col24a1 C A 3: 145,492,301 S1321* probably null Het
Cops6 T G 5: 138,161,438 probably null Het
Crim1 G A 17: 78,315,677 A435T probably damaging Het
Cttn G T 7: 144,441,731 Q382K probably benign Het
Dhx38 A G 8: 109,556,129 L635P probably damaging Het
Dmtf1 T A 5: 9,121,853 T458S probably benign Het
Dnah5 T C 15: 28,366,187 F2682S probably damaging Het
Dnah6 T A 6: 73,095,104 Q2413L probably damaging Het
Dock10 T C 1: 80,592,844 probably null Het
Grik4 A G 9: 42,675,277 V94A possibly damaging Het
Heatr6 T C 11: 83,769,732 V566A probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Inpp4b G A 8: 81,770,800 probably benign Het
Mertk A G 2: 128,801,270 E863G probably benign Het
Muc19 T A 15: 91,877,815 noncoding transcript Het
Myo9a T A 9: 59,863,928 F928I probably damaging Het
Nyap2 T C 1: 81,241,720 Y486H probably damaging Het
Oas1e T C 5: 120,795,405 R32G probably damaging Het
Olfr113 A T 17: 37,574,945 Y159* probably null Het
Olfr1298 A G 2: 111,645,494 F168L probably benign Het
Osbpl6 G A 2: 76,593,454 R848Q probably damaging Het
Piezo2 G A 18: 63,024,475 T2388I probably damaging Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Ptpn12 T C 5: 21,002,437 K308E probably benign Het
Rgsl1 A G 1: 153,825,490 L441P probably damaging Het
Rictor T C 15: 6,776,187 probably null Het
Scn2a T A 2: 65,702,038 S665T possibly damaging Het
Scn8a A G 15: 101,013,476 I926V probably damaging Het
Snrpg T C 6: 86,376,528 I30T probably damaging Het
Spryd3 A T 15: 102,118,990 probably null Het
Svil A G 18: 5,114,531 D2036G probably damaging Het
Synj2 A T 17: 6,017,593 I551F probably damaging Het
Tiam2 A T 17: 3,439,696 probably benign Het
Tmem132b T C 5: 125,787,575 F915S probably damaging Het
Try5 C A 6: 41,311,408 V204L probably benign Het
Vmn2r6 T C 3: 64,556,328 T362A probably benign Het
Other mutations in Engase
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Engase APN 11 118482970 missense possibly damaging 0.91
IGL00963:Engase APN 11 118482998 missense probably damaging 1.00
R0135:Engase UTSW 11 118484478 missense possibly damaging 0.68
R1337:Engase UTSW 11 118482574 missense possibly damaging 0.46
R1435:Engase UTSW 11 118484901 missense probably damaging 1.00
R1515:Engase UTSW 11 118487140 missense possibly damaging 0.53
R1889:Engase UTSW 11 118478933 missense probably damaging 1.00
R1939:Engase UTSW 11 118479186 missense probably damaging 1.00
R4628:Engase UTSW 11 118484905 missense probably damaging 1.00
R4730:Engase UTSW 11 118482922 missense probably damaging 1.00
R4762:Engase UTSW 11 118487094 missense possibly damaging 0.89
R4775:Engase UTSW 11 118482671 missense probably benign 0.22
R5155:Engase UTSW 11 118481281 missense probably benign 0.25
R5271:Engase UTSW 11 118481397 missense probably damaging 0.99
R5688:Engase UTSW 11 118487320 missense possibly damaging 0.91
R6659:Engase UTSW 11 118481316 missense probably benign 0.07
R7104:Engase UTSW 11 118481295 missense probably damaging 0.98
R7233:Engase UTSW 11 118483001 missense probably damaging 1.00
R7961:Engase UTSW 11 118486860 missense possibly damaging 0.67
R8047:Engase UTSW 11 118486456 missense probably benign
Z1177:Engase UTSW 11 118485757 missense possibly damaging 0.82
Posted On 2015-04-16