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 |
D230014K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
118367655-118380035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118369776 bp (GRCm39)
|
| 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
| 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 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
| 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 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
| 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 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
| 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
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,191,795 (GRCm39) |
D139E |
probably benign |
Het |
| Asph |
C |
T |
4: 9,529,984 (GRCm39) |
V347I |
probably benign |
Het |
| Ccdc138 |
A |
T |
10: 58,348,901 (GRCm39) |
D149V |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,991,921 (GRCm39) |
|
probably benign |
Het |
| Cnnm2 |
G |
A |
19: 46,751,650 (GRCm39) |
R480Q |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,198,056 (GRCm39) |
S1321* |
probably null |
Het |
| Cops6 |
T |
G |
5: 138,159,700 (GRCm39) |
|
probably null |
Het |
| Crim1 |
G |
A |
17: 78,623,106 (GRCm39) |
A435T |
probably damaging |
Het |
| Cttn |
G |
T |
7: 143,995,468 (GRCm39) |
Q382K |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,282,761 (GRCm39) |
L635P |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,171,853 (GRCm39) |
T458S |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,366,333 (GRCm39) |
F2682S |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,072,087 (GRCm39) |
Q2413L |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,570,561 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,586,573 (GRCm39) |
V94A |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,660,558 (GRCm39) |
V566A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Inpp4b |
G |
A |
8: 82,497,429 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,190 (GRCm39) |
E863G |
probably benign |
Het |
| Muc19 |
T |
A |
15: 91,762,009 (GRCm39) |
|
noncoding transcript |
Het |
| Myo9a |
T |
A |
9: 59,771,211 (GRCm39) |
F928I |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,435 (GRCm39) |
Y486H |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,470 (GRCm39) |
R32G |
probably damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,836 (GRCm39) |
Y159* |
probably null |
Het |
| Or4k48 |
A |
G |
2: 111,475,839 (GRCm39) |
F168L |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,423,798 (GRCm39) |
R848Q |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,157,546 (GRCm39) |
T2388I |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,207,435 (GRCm39) |
K308E |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,701,236 (GRCm39) |
L441P |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,805,668 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
A |
2: 65,532,382 (GRCm39) |
S665T |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,911,357 (GRCm39) |
I926V |
probably damaging |
Het |
| Snrpg |
T |
C |
6: 86,353,510 (GRCm39) |
I30T |
probably damaging |
Het |
| Spryd3 |
A |
T |
15: 102,027,425 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,114,531 (GRCm39) |
D2036G |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,067,868 (GRCm39) |
I551F |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,489,971 (GRCm39) |
|
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,639 (GRCm39) |
F915S |
probably damaging |
Het |
| Try5 |
C |
A |
6: 41,288,342 (GRCm39) |
V204L |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,749 (GRCm39) |
T362A |
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 |
|
IGL00963:Engase
|
APN |
11 |
118,373,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation