Incidental Mutation 'R1337:Engase'
| ID |
156914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Engase
|
| Ensembl Gene |
ENSMUSG00000033857 |
| Gene Name |
endo-beta-N-acetylglucosaminidase |
| Synonyms |
D230014K01Rik |
| MMRRC Submission |
039402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1337 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
118367655-118380035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118373400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 248
(T248A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043447]
[ENSMUST00000135383]
[ENSMUST00000139917]
[ENSMUST00000166995]
[ENSMUST00000168689]
[ENSMUST00000172279]
[ENSMUST00000171769]
|
| AlphaFold |
Q8BX80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043447
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135383
AA Change: T248A
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117538
Gene: ENSMUSG00000033857
AA Change: T248A
| 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 |
probably benign
Transcript: ENSMUST00000168689
|
| SMART Domains |
Protein: ENSMUSP00000125886
Gene: ENSMUSG00000033857
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FHA|D
|
13 |
143 |
1e-5 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172279
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,033 (GRCm39) |
S37P |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,333,978 (GRCm39) |
I1175V |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,596 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,604,416 (GRCm39) |
I1278T |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,645,721 (GRCm39) |
V1598A |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,497 (GRCm39) |
|
probably null |
Het |
| Ces2g |
A |
T |
8: 105,690,597 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,258 (GRCm39) |
M1015K |
probably benign |
Het |
| Gsdma |
C |
T |
11: 98,560,533 (GRCm39) |
Q162* |
probably null |
Het |
| Hapln3 |
T |
C |
7: 78,767,824 (GRCm39) |
E190G |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,458,196 (GRCm39) |
Q42R |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,987,837 (GRCm39) |
P20S |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,370,068 (GRCm39) |
R1564S |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,361 (GRCm39) |
Y1769C |
unknown |
Het |
| Nup88 |
T |
A |
11: 70,835,716 (GRCm39) |
Q576L |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,078 (GRCm39) |
N137S |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,099 (GRCm39) |
I280V |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,096,971 (GRCm39) |
S825L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,610,308 (GRCm39) |
M2301I |
possibly damaging |
Het |
| Sdk2 |
A |
C |
11: 113,723,157 (GRCm39) |
V1278G |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,866 (GRCm39) |
L100P |
probably damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,009,366 (GRCm39) |
T370A |
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,074,044 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,394,414 (GRCm39) |
D121G |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,597,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Xkr9 |
C |
A |
1: 13,771,348 (GRCm39) |
S288Y |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,420 (GRCm39) |
S376P |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGGCTAGGTCCTCCCTGATG -3'
(R):5'- TCCCTGATGCTCACAGGCACAC -3'
Sequencing Primer
(F):5'- GGCCATGAGACATGGGAC -3'
(R):5'- AATGGTCCCACCCGAGAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation