Incidental Mutation 'IGL02533:Mgat4b'
| ID |
297398 |
| 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 # |
IGL02533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
50116162-50125930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50124379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 413
(F413Y)
|
| 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: F413Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620
AA Change: F413Y
| 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: ENSMUST00000185146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180443
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000221391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221081
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
| Bach2 |
T |
C |
4: 32,562,451 (GRCm39) |
V306A |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,057,168 (GRCm39) |
Y424H |
probably damaging |
Het |
| Cops9 |
T |
C |
1: 92,567,438 (GRCm39) |
E79G |
possibly damaging |
Het |
| Crebbp |
T |
C |
16: 3,925,296 (GRCm39) |
N769D |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dennd4b |
A |
T |
3: 90,179,617 (GRCm39) |
H636L |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,383,039 (GRCm39) |
R857C |
probably damaging |
Het |
| Gbp10 |
A |
T |
5: 105,367,901 (GRCm39) |
V424D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,429 (GRCm39) |
E146G |
possibly damaging |
Het |
| Has2 |
A |
T |
15: 56,545,091 (GRCm39) |
H170Q |
probably benign |
Het |
| Il22ra1 |
G |
A |
4: 135,472,034 (GRCm39) |
G190D |
possibly damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,838 (GRCm39) |
T563A |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,581,099 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,782,241 (GRCm39) |
|
noncoding transcript |
Het |
| Ncoa7 |
A |
T |
10: 30,566,895 (GRCm39) |
S545R |
possibly damaging |
Het |
| Ncoa7 |
A |
C |
10: 30,598,781 (GRCm39) |
D47E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,850,257 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,628 (GRCm39) |
M137L |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,047 (GRCm39) |
T309S |
probably benign |
Het |
| Or8i2 |
T |
A |
2: 86,852,697 (GRCm39) |
S64C |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,358,724 (GRCm39) |
I587T |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,606,932 (GRCm39) |
D65G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,297,572 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,438,451 (GRCm39) |
I304M |
possibly damaging |
Het |
| Ripor2 |
G |
T |
13: 24,885,378 (GRCm39) |
E538* |
probably null |
Het |
| Sart1 |
G |
A |
19: 5,433,749 (GRCm39) |
R363* |
probably null |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Spon2 |
C |
A |
5: 33,371,942 (GRCm39) |
C288F |
probably damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,562,386 (GRCm39) |
R320C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,643,282 (GRCm39) |
I22F |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,954,580 (GRCm39) |
F818L |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,787,063 (GRCm39) |
Q216P |
probably damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,305,840 (GRCm39) |
Y527* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,007,642 (GRCm39) |
Y125F |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation