Incidental Mutation 'IGL02977:Gcnt1'
| ID |
406423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gcnt1
|
| Ensembl Gene |
ENSMUSG00000038843 |
| Gene Name |
glucosaminyl (N-acetyl) transferase 1, core 2 |
| Synonyms |
C2 GlcNAcT, IGnT, 5630400D21Rik, beta-1, 6-N-acetylglucosaminyltransferase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
17303505-17350208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17306738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 329
(I329N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169897]
[ENSMUST00000174236]
|
| AlphaFold |
Q09324 |
| PDB Structure |
X-ray crystal structure of murine leukocyte-type Core 2 b1,6-N-acetylglucosaminyltransferase (C2GnT-L) [X-RAY DIFFRACTION]
X-ray crystal structure of murine leukocyte-type Core 2 b1,6-N-acetylglucosaminyltransferase (C2GnT-L) in complex with Galb1,3GalNAc [X-RAY DIFFRACTION]
Structure and mechanisim of core 2 beta1,6-n-acetylglucosaminyltransferase: a Metal-ion independent gt-a glycosyltransferase [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169897
AA Change: I329N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: I329N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
123 |
392 |
9.3e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174137
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174236
AA Change: I329N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: I329N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
127 |
396 |
5.7e-65 |
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 is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this allele display a grossly normal phenotype and are fertile. There are abnormalities in white blood cell counts and in inflammatory response however. [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 |
|---|
| 2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
| 4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
| Bmp5 |
A |
G |
9: 75,801,081 (GRCm39) |
T404A |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
| Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
| Dnaja4 |
T |
C |
9: 54,621,794 (GRCm39) |
L343P |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,196,246 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,319 (GRCm39) |
N569S |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
| Hspe1 |
T |
C |
1: 55,130,232 (GRCm39) |
Y88H |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
| Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,524 (GRCm39) |
D112G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
| Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
probably damaging |
Het |
|
| Other mutations in Gcnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02700:Gcnt1
|
APN |
19 |
17,306,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Gcnt1
|
APN |
19 |
17,307,493 (GRCm39) |
missense |
probably benign |
|
|
IGL03302:Gcnt1
|
APN |
19 |
17,306,547 (GRCm39) |
missense |
probably benign |
0.25 |
|
magenta
|
UTSW |
19 |
17,306,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Violet
|
UTSW |
19 |
17,306,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Gcnt1
|
UTSW |
19 |
17,306,481 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0440:Gcnt1
|
UTSW |
19 |
17,307,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1159:Gcnt1
|
UTSW |
19 |
17,307,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1523:Gcnt1
|
UTSW |
19 |
17,307,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Gcnt1
|
UTSW |
19 |
17,306,695 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4510:Gcnt1
|
UTSW |
19 |
17,307,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4511:Gcnt1
|
UTSW |
19 |
17,307,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Gcnt1
|
UTSW |
19 |
17,306,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Gcnt1
|
UTSW |
19 |
17,306,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Gcnt1
|
UTSW |
19 |
17,307,143 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8739:Gcnt1
|
UTSW |
19 |
17,307,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9082:Gcnt1
|
UTSW |
19 |
17,307,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9589:Gcnt1
|
UTSW |
19 |
17,307,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation