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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |