Incidental Mutation 'R6621:Manea'
| ID |
526320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Manea
|
| Ensembl Gene |
ENSMUSG00000040520 |
| Gene Name |
mannosidase, endo-alpha |
| Synonyms |
4932703L02Rik |
| MMRRC Submission |
044744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6621 (G1)
|
| Quality Score |
130.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
26324506-26346891 bp(-) (GRCm39) |
| Type of Mutation |
splice site (388 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 26340363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041374]
[ENSMUST00000153813]
|
| AlphaFold |
Q6NXH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041374
|
| SMART Domains |
Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
| 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 null
Transcript: ENSMUST00000153813
|
| SMART Domains |
Protein: ENSMUSP00000115791
Gene: ENSMUSG00000040520
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
C |
T |
8: 120,872,162 (GRCm39) |
T30M |
possibly damaging |
Het |
| Abcb8 |
T |
C |
5: 24,599,508 (GRCm39) |
F8L |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,219,729 (GRCm39) |
C44F |
probably damaging |
Het |
| Ankrd34a |
A |
G |
3: 96,505,531 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Chat |
C |
T |
14: 32,140,970 (GRCm39) |
A476T |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,487,719 (GRCm39) |
D100G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,472 (GRCm39) |
F615L |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,182,484 (GRCm39) |
D599V |
probably damaging |
Het |
| Dpysl5 |
T |
C |
5: 30,941,813 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,855 (GRCm39) |
L460P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,820,158 (GRCm39) |
V5297G |
possibly damaging |
Het |
| Gm28363 |
A |
G |
1: 117,655,087 (GRCm39) |
D102G |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,742,718 (GRCm39) |
V1377A |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,252,059 (GRCm39) |
F264I |
probably benign |
Het |
| Kif3a |
A |
G |
11: 53,469,957 (GRCm39) |
I152M |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,414,366 (GRCm39) |
S323G |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,439,409 (GRCm39) |
E588G |
probably damaging |
Het |
| Mllt3 |
T |
G |
4: 87,759,034 (GRCm39) |
K338T |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,469,610 (GRCm39) |
T1324A |
probably damaging |
Het |
| Nudt8 |
T |
A |
19: 4,051,320 (GRCm39) |
Y64N |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,368 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,598 (GRCm39) |
I31V |
probably benign |
Het |
| Or51ah3 |
A |
G |
7: 103,210,085 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,287 (GRCm39) |
W49R |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,541,899 (GRCm39) |
V117A |
probably benign |
Het |
| Or8c9 |
A |
T |
9: 38,241,758 (GRCm39) |
I289F |
probably damaging |
Het |
| Osm |
T |
A |
11: 4,189,541 (GRCm39) |
D108E |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,942,878 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,017,954 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
T |
C |
9: 45,807,468 (GRCm39) |
D245G |
probably damaging |
Het |
| Slc10a7 |
T |
C |
8: 79,242,263 (GRCm39) |
I50T |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,122 (GRCm39) |
V251A |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,966,242 (GRCm39) |
T320S |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,819 (GRCm39) |
E28G |
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 |
|
|
IGL02195:Manea
|
APN |
4 |
26,340,628 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGCACATGTGAATTCATCAGTTC -3'
(R):5'- ATCATCCGGTCCTGGAACAC -3'
Sequencing Primer
(F):5'- GTGAATTCATCAGTTCAATCCCTGG -3'
(R):5'- AACACTGGGACCCTCGGATAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation