Incidental Mutation 'IGL03369:Mgat4b'
| ID |
420223 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgat4b
|
| Ensembl Gene |
ENSMUSG00000036620 |
| Gene Name |
mannoside acetylglucosaminyltransferase 4, isoenzyme B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50116162-50125930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50124936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 457
(E457G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041725]
[ENSMUST00000101265]
[ENSMUST00000102772]
[ENSMUST00000125555]
[ENSMUST00000147468]
[ENSMUST00000221525]
|
| AlphaFold |
Q812F8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041725
AA Change: E457G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620
AA Change: E457G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_54
|
98 |
387 |
6.6e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101265
|
| SMART Domains |
Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
8 |
112 |
4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102772
|
| SMART Domains |
Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
8 |
131 |
1.1e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125555
|
| SMART Domains |
Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151803
|
| SMART Domains |
Protein: ENSMUSP00000116802
Gene: ENSMUSG00000036620
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
46 |
252 |
1.9e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222076
|
| 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 key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed targeted allele are viable and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,380 (GRCm39) |
N72S |
possibly damaging |
Het |
| A2m |
G |
A |
6: 121,653,862 (GRCm39) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 98,923,057 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,301,746 (GRCm39) |
D1106G |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,648,149 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,191 (GRCm39) |
H1371R |
probably benign |
Het |
| Chrna1 |
A |
T |
2: 73,400,789 (GRCm39) |
F247Y |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,879,923 (GRCm39) |
T813A |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,464,790 (GRCm39) |
V414A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,465,937 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
G |
2: 62,333,699 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,396 (GRCm39) |
V385D |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,088,008 (GRCm39) |
|
probably null |
Het |
| Gorasp2 |
G |
A |
2: 70,513,336 (GRCm39) |
G201D |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,783 (GRCm39) |
Q316L |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,696 (GRCm39) |
I202V |
probably damaging |
Het |
| Gsta3 |
A |
G |
1: 21,335,173 (GRCm39) |
K218R |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,686,340 (GRCm39) |
T1195I |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,514 (GRCm39) |
R488G |
possibly damaging |
Het |
| Mapt |
A |
T |
11: 104,173,259 (GRCm39) |
Y18F |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,544,143 (GRCm39) |
V12A |
probably benign |
Het |
| Mybl1 |
T |
A |
1: 9,742,780 (GRCm39) |
K609N |
probably damaging |
Het |
| Ncaph2 |
T |
G |
15: 89,247,858 (GRCm39) |
V75G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,068,049 (GRCm39) |
Y5795H |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,854,459 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
T |
C |
10: 129,638,340 (GRCm39) |
D18G |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,435 (GRCm39) |
I82N |
probably damaging |
Het |
| Plekhf2 |
G |
T |
4: 10,990,703 (GRCm39) |
T213K |
probably benign |
Het |
| Plekho2 |
C |
A |
9: 65,466,776 (GRCm39) |
G105W |
probably damaging |
Het |
| Polr3b |
G |
A |
10: 84,512,816 (GRCm39) |
G566D |
probably damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,892,504 (GRCm39) |
I1068T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,312,294 (GRCm39) |
E907V |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,881,107 (GRCm39) |
S469F |
probably damaging |
Het |
| Spata31e4 |
G |
T |
13: 50,857,200 (GRCm39) |
C946F |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,535,647 (GRCm39) |
D182V |
unknown |
Het |
| Uckl1 |
T |
C |
2: 181,211,982 (GRCm39) |
T375A |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,370 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,909,517 (GRCm39) |
I14N |
probably benign |
Het |
| Wbp4 |
A |
T |
14: 79,707,558 (GRCm39) |
N184K |
probably damaging |
Het |
|
| Other mutations in Mgat4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01628:Mgat4b
|
APN |
11 |
50,124,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01980:Mgat4b
|
APN |
11 |
50,121,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Mgat4b
|
APN |
11 |
50,124,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02729:Mgat4b
|
APN |
11 |
50,124,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02888:Mgat4b
|
APN |
11 |
50,123,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Mgat4b
|
UTSW |
11 |
50,121,826 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0136:Mgat4b
|
UTSW |
11 |
50,121,908 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0394:Mgat4b
|
UTSW |
11 |
50,121,746 (GRCm39) |
splice site |
probably null |
|
|
R0631:Mgat4b
|
UTSW |
11 |
50,121,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0657:Mgat4b
|
UTSW |
11 |
50,121,908 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3932:Mgat4b
|
UTSW |
11 |
50,124,165 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4419:Mgat4b
|
UTSW |
11 |
50,123,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Mgat4b
|
UTSW |
11 |
50,101,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6315:Mgat4b
|
UTSW |
11 |
50,122,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6677:Mgat4b
|
UTSW |
11 |
50,123,898 (GRCm39) |
splice site |
probably null |
|
|
R6786:Mgat4b
|
UTSW |
11 |
50,121,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Mgat4b
|
UTSW |
11 |
50,124,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Mgat4b
|
UTSW |
11 |
50,116,497 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8042:Mgat4b
|
UTSW |
11 |
50,123,203 (GRCm39) |
nonsense |
probably null |
|
|
R8165:Mgat4b
|
UTSW |
11 |
50,101,801 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8428:Mgat4b
|
UTSW |
11 |
50,121,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8859:Mgat4b
|
UTSW |
11 |
50,121,674 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2016-08-02 |
Incidental Mutation