Incidental Mutation 'IGL02617:Gcnt3'
| ID |
300704 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gcnt3
|
| Ensembl Gene |
ENSMUSG00000032226 |
| Gene Name |
glucosaminyl (N-acetyl) transferase 3, mucin type |
| Synonyms |
2010013H22Rik, 2210401J11Rik, 2210021I22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
69938778-69945370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69941444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 375
(G375W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034751]
|
| AlphaFold |
Q5JCT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034751
AA Change: G375W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: G375W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
133 |
401 |
2.1e-63 |
PFAM |
|
| 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 member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygote null mice have decreases in core 2 O-glycan structures on cell surfaces, decreased immunoglobulin levels, and disrupted mucosal barrier in the intestines. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
| Adgrg5 |
A |
G |
8: 95,660,610 (GRCm39) |
D79G |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,348 (GRCm39) |
D249N |
possibly damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
| Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,296,206 (GRCm39) |
K289E |
probably benign |
Het |
| Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
| Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,504 (GRCm39) |
K248R |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,315,750 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
| Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
probably damaging |
Het |
|
| Other mutations in Gcnt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01415:Gcnt3
|
APN |
9 |
69,941,739 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02965:Gcnt3
|
APN |
9 |
69,942,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03113:Gcnt3
|
APN |
9 |
69,941,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:Gcnt3
|
APN |
9 |
69,941,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4131001:Gcnt3
|
UTSW |
9 |
69,941,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0012:Gcnt3
|
UTSW |
9 |
69,941,367 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0012:Gcnt3
|
UTSW |
9 |
69,941,367 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1241:Gcnt3
|
UTSW |
9 |
69,941,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1653:Gcnt3
|
UTSW |
9 |
69,942,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Gcnt3
|
UTSW |
9 |
69,941,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Gcnt3
|
UTSW |
9 |
69,941,989 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4588:Gcnt3
|
UTSW |
9 |
69,941,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Gcnt3
|
UTSW |
9 |
69,942,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Gcnt3
|
UTSW |
9 |
69,941,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5718:Gcnt3
|
UTSW |
9 |
69,941,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6974:Gcnt3
|
UTSW |
9 |
69,942,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Gcnt3
|
UTSW |
9 |
69,941,453 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8215:Gcnt3
|
UTSW |
9 |
69,941,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8483:Gcnt3
|
UTSW |
9 |
69,941,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Gcnt3
|
UTSW |
9 |
69,941,996 (GRCm39) |
nonsense |
probably null |
|
|
R8735:Gcnt3
|
UTSW |
9 |
69,941,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9156:Gcnt3
|
UTSW |
9 |
69,941,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Gcnt3
|
UTSW |
9 |
69,941,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Gcnt3
|
UTSW |
9 |
69,941,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Gcnt3
|
UTSW |
9 |
69,942,529 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9524:Gcnt3
|
UTSW |
9 |
69,941,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Gcnt3
|
UTSW |
9 |
69,942,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation