Incidental Mutation 'IGL02888:Mgat4b'
| ID |
363057 |
| 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 # |
IGL02888
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50116162-50125930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50123159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 249
(Y249N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041725]
[ENSMUST00000101265]
[ENSMUST00000102772]
[ENSMUST00000125555]
[ENSMUST00000147468]
[ENSMUST00000221525]
|
| AlphaFold |
Q812F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041725
AA Change: Y249N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620
AA Change: Y249N
| 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 |
unknown
Transcript: ENSMUST00000151803
AA Change: Y196N
|
| SMART Domains |
Protein: ENSMUSP00000116802
Gene: ENSMUSG00000036620
AA Change: Y196N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_54
|
46 |
252 |
1.9e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221525
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,881,879 (GRCm39) |
Y272F |
probably damaging |
Het |
| AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
| Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
| Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,365 (GRCm39) |
R1043H |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
| Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
| Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
| Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
| Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
| Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,331,169 (GRCm39) |
P169L |
probably damaging |
Het |
| Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
| Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
| Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
| Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,080,980 (GRCm39) |
L438Q |
probably damaging |
Het |
| Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
| Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
| Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
| Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
| Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
| Sytl3 |
A |
G |
17: 7,000,483 (GRCm39) |
T218A |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,447,297 (GRCm39) |
D565G |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
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 |
|
IGL03369:Mgat4b
|
APN |
11 |
50,124,936 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2015-12-18 |
Incidental Mutation