Incidental Mutation 'IGL02195:Manea'
| ID |
284036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Manea
|
| Ensembl Gene |
ENSMUSG00000040520 |
| Gene Name |
mannosidase, endo-alpha |
| Synonyms |
4932703L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
26324506-26346891 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 26340628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 111
(Y111*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041374]
[ENSMUST00000153813]
|
| AlphaFold |
Q6NXH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041374
AA Change: Y111*
|
| SMART Domains |
Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: Y111*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_99
|
98 |
448 |
3.2e-192 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153813
|
| SMART Domains |
Protein: ENSMUSP00000115791
Gene: ENSMUSG00000040520
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
G |
T |
7: 79,476,433 (GRCm39) |
A65D |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,004,376 (GRCm39) |
|
probably benign |
Het |
| Car11 |
G |
T |
7: 45,350,716 (GRCm39) |
V71L |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,367 (GRCm39) |
Y123C |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,336,545 (GRCm39) |
V52M |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,219 (GRCm39) |
C560S |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,755 (GRCm39) |
Y170F |
probably benign |
Het |
| Ighv1-54 |
A |
T |
12: 115,157,570 (GRCm39) |
S26T |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,221,222 (GRCm39) |
W718R |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,798,242 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
T |
C |
X: 99,769,822 (GRCm39) |
F1154S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,267,970 (GRCm39) |
C253R |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,917,549 (GRCm39) |
S149G |
probably benign |
Het |
| Lonrf1 |
G |
A |
8: 36,687,102 (GRCm39) |
R745* |
probably null |
Het |
| Map2k1 |
A |
G |
9: 64,101,090 (GRCm39) |
I196T |
probably benign |
Het |
| Matn4 |
T |
C |
2: 164,242,972 (GRCm39) |
D42G |
probably damaging |
Het |
| Meioc |
C |
A |
11: 102,565,683 (GRCm39) |
T433K |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,013,946 (GRCm39) |
V204A |
probably damaging |
Het |
| Nus1 |
A |
G |
10: 52,309,465 (GRCm39) |
D91G |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,417 (GRCm39) |
S53P |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,894,659 (GRCm39) |
L549P |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Prdm15 |
A |
G |
16: 97,637,029 (GRCm39) |
V96A |
probably damaging |
Het |
| Prune2 |
C |
A |
19: 17,096,921 (GRCm39) |
D808E |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,480,849 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
T |
15: 89,432,321 (GRCm39) |
Q947L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,201,882 (GRCm39) |
E616G |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,376 (GRCm39) |
H519R |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,462 (GRCm39) |
L148P |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,707,911 (GRCm39) |
T617A |
probably damaging |
Het |
| Tmem139 |
G |
T |
6: 42,240,901 (GRCm39) |
R162L |
probably damaging |
Het |
| Trim72 |
A |
T |
7: 127,607,136 (GRCm39) |
M222L |
probably damaging |
Het |
|
| Other mutations in Manea |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00685:Manea
|
APN |
4 |
26,340,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Manea
|
APN |
4 |
26,340,965 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02527:Manea
|
APN |
4 |
26,336,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02727:Manea
|
APN |
4 |
26,328,127 (GRCm39) |
nonsense |
probably null |
|
|
IGL02727:Manea
|
APN |
4 |
26,328,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0099:Manea
|
UTSW |
4 |
26,328,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Manea
|
UTSW |
4 |
26,329,080 (GRCm39) |
splice site |
probably null |
|
|
R0144:Manea
|
UTSW |
4 |
26,340,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0839:Manea
|
UTSW |
4 |
26,327,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Manea
|
UTSW |
4 |
26,327,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Manea
|
UTSW |
4 |
26,327,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Manea
|
UTSW |
4 |
26,336,630 (GRCm39) |
nonsense |
probably null |
|
|
R6621:Manea
|
UTSW |
4 |
26,340,363 (GRCm39) |
splice site |
probably null |
|
|
R7113:Manea
|
UTSW |
4 |
26,336,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Manea
|
UTSW |
4 |
26,328,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Manea
|
UTSW |
4 |
26,327,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Manea
|
UTSW |
4 |
26,328,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7680:Manea
|
UTSW |
4 |
26,340,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Manea
|
UTSW |
4 |
26,327,910 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7698:Manea
|
UTSW |
4 |
26,327,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Manea
|
UTSW |
4 |
26,340,758 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9568:Manea
|
UTSW |
4 |
26,340,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation