Incidental Mutation 'IGL03374:Gcnt3'
ID |
420410 |
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 # |
IGL03374
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
69938778-69945370 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69941695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 291
(M291K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034751]
|
AlphaFold |
Q5JCT0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034751
AA Change: M291K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034751 Gene: ENSMUSG00000032226 AA Change: M291K
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 |
Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
Atl1 |
T |
C |
12: 70,002,141 (GRCm39) |
Y367H |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,411,633 (GRCm39) |
N367S |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,310,108 (GRCm39) |
E372G |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,574 (GRCm39) |
Q98L |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,053 (GRCm39) |
L66P |
probably damaging |
Het |
Phyhipl |
A |
G |
10: 70,401,109 (GRCm39) |
V163A |
possibly damaging |
Het |
Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
possibly 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 |
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 |
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 |
2016-08-02 |