Incidental Mutation 'IGL01134:Mgat3'
| ID |
52845 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mgat3
|
| Ensembl Gene |
ENSMUSG00000042428 |
| Gene Name |
mannoside acetylglucosaminyltransferase 3 |
| Synonyms |
GnT-III, 1110038J12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
80057922-80099720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 80096377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 401
(N401K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044970]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044970
AA Change: N401K
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000043077
Gene: ENSMUSG00000042428
AA Change: N401K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_17
|
191 |
362 |
3.2e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced DEN and PB-induced hepatic tumors and reduced hepatocyte proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
Het |
|
| Other mutations in Mgat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Mgat3
|
APN |
15 |
80,096,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Mgat3
|
UTSW |
15 |
80,096,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1171:Mgat3
|
UTSW |
15 |
80,095,838 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1885:Mgat3
|
UTSW |
15 |
80,095,820 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1886:Mgat3
|
UTSW |
15 |
80,095,820 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1986:Mgat3
|
UTSW |
15 |
80,096,390 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2125:Mgat3
|
UTSW |
15 |
80,096,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3081:Mgat3
|
UTSW |
15 |
80,096,055 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4819:Mgat3
|
UTSW |
15 |
80,096,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Mgat3
|
UTSW |
15 |
80,096,743 (GRCm39) |
missense |
probably benign |
|
|
R5083:Mgat3
|
UTSW |
15 |
80,095,499 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5356:Mgat3
|
UTSW |
15 |
80,096,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Mgat3
|
UTSW |
15 |
80,095,811 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6508:Mgat3
|
UTSW |
15 |
80,096,225 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6784:Mgat3
|
UTSW |
15 |
80,096,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7021:Mgat3
|
UTSW |
15 |
80,096,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Mgat3
|
UTSW |
15 |
80,096,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7592:Mgat3
|
UTSW |
15 |
80,095,193 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7774:Mgat3
|
UTSW |
15 |
80,095,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7819:Mgat3
|
UTSW |
15 |
80,095,973 (GRCm39) |
nonsense |
probably null |
|
|
R8559:Mgat3
|
UTSW |
15 |
80,096,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Mgat3
|
UTSW |
15 |
80,096,472 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9285:Mgat3
|
UTSW |
15 |
80,096,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Mgat3
|
UTSW |
15 |
80,095,641 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation