Incidental Mutation 'IGL03302:Gcnt1'
| ID |
416256 |
| 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 # |
IGL03302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
17303505-17350208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 17306547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 393
(R393S)
|
| 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 benign
Transcript: ENSMUST00000169897
AA Change: R393S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: R393S
| 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 benign
Transcript: ENSMUST00000174236
AA Change: R393S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: R393S
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
| Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
| Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
| Ccr9 |
T |
A |
9: 123,608,601 (GRCm39) |
D94E |
probably damaging |
Het |
| Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
| Cyp4a14 |
T |
C |
4: 115,348,575 (GRCm39) |
I330V |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
| Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
| Lctl |
C |
T |
9: 64,042,130 (GRCm39) |
|
probably benign |
Het |
| Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
| Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
| Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
| Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
| Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
| Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
| Tead2 |
T |
G |
7: 44,882,323 (GRCm39) |
Y121D |
possibly damaging |
Het |
| Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
| Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
| Zc3h7a |
T |
A |
16: 10,959,574 (GRCm39) |
H793L |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
possibly 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 |
|
|
IGL02977:Gcnt1
|
APN |
19 |
17,306,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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