Incidental Mutation 'IGL01415:Gcnt3'
| ID |
80196 |
| 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 # |
IGL01415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
69938778-69945370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 69941739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 276
(H276Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034751]
|
| AlphaFold |
Q5JCT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034751
AA Change: H276Q
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: H276Q
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,890,100 (GRCm39) |
W98C |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
| Ighe |
A |
C |
12: 113,235,011 (GRCm39) |
L383R |
unknown |
Het |
| Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
| Marveld3 |
G |
A |
8: 110,688,705 (GRCm39) |
T12I |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
| Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,120,522 (GRCm39) |
E219K |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
probably benign |
Het |
|
| Other mutations in Gcnt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02617:Gcnt3
|
APN |
9 |
69,941,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-05 |
Incidental Mutation