Incidental Mutation 'R5271:Engase'
ID 400333
Institutional Source Beutler Lab
Gene Symbol Engase
Ensembl Gene ENSMUSG00000033857
Gene Name endo-beta-N-acetylglucosaminidase
Synonyms D230014K01Rik
MMRRC Submission 042861-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5271 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118367655-118380035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 118372223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 172 (A172S)
Ref Sequence ENSEMBL: ENSMUSP00000117538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043447] [ENSMUST00000135383] [ENSMUST00000139917] [ENSMUST00000166995] [ENSMUST00000168689] [ENSMUST00000171769] [ENSMUST00000172279]
AlphaFold Q8BX80
Predicted Effect probably benign
Transcript: ENSMUST00000043447
Predicted Effect probably damaging
Transcript: ENSMUST00000135383
AA Change: A172S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: A172S

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 probably benign
Transcript: ENSMUST00000168689
SMART Domains Protein: ENSMUSP00000125886
Gene: ENSMUSG00000033857

DomainStartEndE-ValueType
PDB:3FHA|D 13 143 1e-5 PDB
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
Meta Mutation Damage Score 0.3584 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (65/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,496 (GRCm39) K33R possibly damaging Het
4632415L05Rik C T 3: 19,949,311 (GRCm39) noncoding transcript Het
4930542C16Rik A C 14: 24,665,598 (GRCm39) noncoding transcript Het
Adprh A T 16: 38,266,416 (GRCm39) L242* probably null Het
Anapc1 G A 2: 128,527,905 (GRCm39) Q18* probably null Het
Bfar T C 16: 13,510,261 (GRCm39) probably benign Het
Bmp1 T C 14: 70,745,568 (GRCm39) I206V probably benign Het
Cc2d1b T A 4: 108,480,826 (GRCm39) probably benign Het
Clock A G 5: 76,389,801 (GRCm39) I349T probably damaging Het
Cox11 A G 11: 90,534,558 (GRCm39) Y60C probably damaging Het
Cyp1a1 G A 9: 57,610,121 (GRCm39) V512M probably benign Het
Dcdc2a T C 13: 25,371,671 (GRCm39) F311S probably benign Het
Dnase1l3 T C 14: 7,993,843 (GRCm38) D48G probably damaging Het
F2 T C 2: 91,465,466 (GRCm39) probably benign Het
Galnt2l A G 8: 122,997,872 (GRCm39) probably benign Het
Gcc2 T C 10: 58,105,517 (GRCm39) V215A possibly damaging Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm20671 T C 5: 32,977,303 (GRCm39) K1817R possibly damaging Het
Gm20939 T A 17: 95,184,583 (GRCm39) Y410* probably null Het
Gm27013 T C 6: 130,653,878 (GRCm39) Y528C probably damaging Het
Il23r T C 6: 67,400,680 (GRCm39) H550R probably benign Het
Iqgap1 A T 7: 80,383,896 (GRCm39) V1056E probably damaging Het
Lrit3 T A 3: 129,581,950 (GRCm39) Y679F probably damaging Het
Megf8 A T 7: 25,041,131 (GRCm39) E1120V probably damaging Het
Mta1 A G 12: 113,095,577 (GRCm39) E518G probably damaging Het
Myo9a A G 9: 59,814,665 (GRCm39) I2200M probably damaging Het
Ncoa7 T C 10: 30,598,725 (GRCm39) H66R probably benign Het
Ncor1 A G 11: 62,231,371 (GRCm39) V812A probably damaging Het
Ndnf T C 6: 65,680,650 (GRCm39) Y310H possibly damaging Het
Ndst1 G A 18: 60,838,204 (GRCm39) T347I probably benign Het
Or10a3m T C 7: 108,313,424 (GRCm39) L276S probably damaging Het
Or4c15b A T 2: 89,113,297 (GRCm39) F60Y probably benign Het
Pcdhb10 C A 18: 37,546,222 (GRCm39) Q433K probably benign Het
Pcdhb18 G A 18: 37,624,649 (GRCm39) V660M possibly damaging Het
Pds5b T A 5: 150,646,818 (GRCm39) N202K possibly damaging Het
Pira12 A T 7: 3,900,566 (GRCm39) Y61* probably null Het
Polk T C 13: 96,620,047 (GRCm39) S718G probably benign Het
Ptpdc1 T C 13: 48,744,174 (GRCm39) D149G probably damaging Het
Rb1cc1 T A 1: 6,319,417 (GRCm39) C35* probably null Het
Samd9l C T 6: 3,376,156 (GRCm39) M368I probably benign Het
Shroom3 T C 5: 93,110,107 (GRCm39) M1739T probably damaging Het
Slc18a3 A G 14: 32,185,705 (GRCm39) L226P probably damaging Het
St7l A T 3: 104,775,376 (GRCm39) Y84F probably damaging Het
Svil A T 18: 5,062,329 (GRCm39) N392I probably benign Het
Syngr1 T A 15: 79,982,240 (GRCm39) M9K probably benign Het
Taar2 T C 10: 23,816,930 (GRCm39) S157P probably damaging Het
Tagap1 G T 17: 7,223,495 (GRCm39) Y400* probably null Het
Tbc1d8 T A 1: 39,412,848 (GRCm39) E976V probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Tnfaip2 A G 12: 111,414,894 (GRCm39) probably benign Het
Ttn C T 2: 76,536,861 (GRCm39) S34988N possibly damaging Het
Tubg1 T G 11: 101,011,064 (GRCm39) N15K probably damaging Het
Unc93a2 T C 17: 7,637,081 (GRCm39) N149S possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zap70 T A 1: 36,820,446 (GRCm39) V547D probably damaging Het
Zfp146 G T 7: 29,861,900 (GRCm39) N47K probably benign Het
Znrf1 T G 8: 112,335,976 (GRCm39) M159R 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
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
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'- CCACGAGCAATCACTGTGTC -3'
(R):5'- TGGCTGCCCATCATCTACAG -3'

Sequencing Primer
(F):5'- GAGCAATCACTGTGTCCTGATACTG -3'
(R):5'- TACAGATGCTCCCAGGCTGATC -3'
Posted On 2016-07-06