Incidental Mutation 'IGL01980:Mgat4b'
ID |
182717 |
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 # |
IGL01980
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
50116162-50125930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50121540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 52
(L52Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041725]
[ENSMUST00000147468]
|
AlphaFold |
Q812F8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041725
AA Change: L44Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043346 Gene: ENSMUSG00000036620 AA Change: L44Q
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 |
noncoding transcript
Transcript: ENSMUST00000122977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133714
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147468
AA Change: L52Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: ENSMUST00000185146
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd60 |
C |
T |
2: 173,412,996 (GRCm39) |
C164Y |
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,733,463 (GRCm39) |
A979V |
probably benign |
Het |
Col5a2 |
C |
T |
1: 45,421,393 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,658,184 (GRCm39) |
N676S |
probably damaging |
Het |
Cpa1 |
T |
C |
6: 30,641,581 (GRCm39) |
F192L |
possibly damaging |
Het |
Entpd6 |
T |
A |
2: 150,604,286 (GRCm39) |
|
probably null |
Het |
Fam185a |
A |
G |
5: 21,664,171 (GRCm39) |
K302E |
probably damaging |
Het |
Il12rb2 |
T |
C |
6: 67,337,519 (GRCm39) |
K121E |
probably benign |
Het |
Impg2 |
G |
A |
16: 56,041,890 (GRCm39) |
C178Y |
probably damaging |
Het |
Kdm3b |
G |
T |
18: 34,967,289 (GRCm39) |
C1698F |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,851 (GRCm39) |
D451G |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,792,836 (GRCm39) |
S363R |
probably benign |
Het |
Mtfmt |
A |
G |
9: 65,344,356 (GRCm39) |
Y94C |
probably benign |
Het |
Myo7b |
G |
A |
18: 32,094,953 (GRCm39) |
L1881F |
possibly damaging |
Het |
Or51a10 |
A |
T |
7: 103,699,300 (GRCm39) |
M87K |
probably benign |
Het |
Or6c6 |
G |
T |
10: 129,187,386 (GRCm39) |
|
probably benign |
Het |
Pex5 |
T |
C |
6: 124,375,339 (GRCm39) |
N524S |
probably damaging |
Het |
Plppr1 |
A |
T |
4: 49,319,992 (GRCm39) |
Y206F |
possibly damaging |
Het |
Polr3e |
A |
G |
7: 120,539,519 (GRCm39) |
|
probably benign |
Het |
Rhbdd1 |
A |
G |
1: 82,318,555 (GRCm39) |
|
probably benign |
Het |
Rims4 |
A |
T |
2: 163,707,702 (GRCm39) |
|
probably benign |
Het |
Smarcal1 |
A |
T |
1: 72,655,679 (GRCm39) |
K653* |
probably null |
Het |
Stt3b |
C |
T |
9: 115,105,767 (GRCm39) |
|
probably null |
Het |
Syt8 |
C |
A |
7: 141,993,877 (GRCm39) |
L343M |
probably damaging |
Het |
Tbc1d23 |
G |
A |
16: 57,009,615 (GRCm39) |
|
probably benign |
Het |
Tfec |
T |
C |
6: 16,845,465 (GRCm39) |
I65V |
probably damaging |
Het |
Tmem236 |
A |
T |
2: 14,223,716 (GRCm39) |
Q168H |
probably benign |
Het |
Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
Tnip2 |
A |
G |
5: 34,654,212 (GRCm39) |
V288A |
probably benign |
Het |
Ttc1 |
G |
A |
11: 43,621,291 (GRCm39) |
|
probably benign |
Het |
Tubb4b-ps1 |
A |
C |
5: 7,229,843 (GRCm39) |
|
probably benign |
Het |
Tut1 |
T |
C |
19: 8,931,364 (GRCm39) |
C21R |
probably damaging |
Het |
Ubr4 |
C |
A |
4: 139,156,913 (GRCm39) |
Q2313K |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,615,966 (GRCm39) |
E119G |
probably damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,475 (GRCm39) |
Q101L |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,450,678 (GRCm39) |
D188G |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,686,290 (GRCm39) |
E557G |
possibly damaging |
Het |
Zfp738 |
A |
G |
13: 67,818,096 (GRCm39) |
F632L |
possibly 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 |
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 |
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 |
2014-05-07 |