Incidental Mutation 'R1159:Gcnt1'
| ID |
102004 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
039232-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
17303505-17350208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17307168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 186
(V186F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000169897
AA Change: V186F
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: V186F
| 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 |
possibly damaging
Transcript: ENSMUST00000174236
AA Change: V186F
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: V186F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
127 |
396 |
5.7e-65 |
PFAM |
|
| Meta Mutation Damage Score |
0.4178 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,115,137 (GRCm39) |
H164Y |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,138 (GRCm39) |
I288T |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,010,865 (GRCm39) |
R541C |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,229,222 (GRCm39) |
|
probably benign |
Het |
| Anp32b |
T |
C |
4: 46,471,478 (GRCm39) |
|
probably benign |
Het |
| Avil |
T |
C |
10: 126,847,659 (GRCm39) |
V528A |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdk10 |
T |
C |
8: 123,955,062 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,968,499 (GRCm39) |
F111Y |
probably damaging |
Het |
| Cryge |
A |
G |
1: 65,089,967 (GRCm39) |
F72L |
probably benign |
Het |
| Ercc3 |
C |
T |
18: 32,397,611 (GRCm39) |
T614I |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 91,965,483 (GRCm39) |
I572T |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,921,229 (GRCm39) |
D88G |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,138,162 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,781,602 (GRCm39) |
M426V |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,421,978 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
G |
A |
16: 21,880,603 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,358,607 (GRCm39) |
S215P |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,613,766 (GRCm39) |
M421T |
probably damaging |
Het |
| Mtif2 |
C |
A |
11: 29,490,729 (GRCm39) |
R478S |
possibly damaging |
Het |
| Nadk2 |
G |
A |
15: 9,106,925 (GRCm39) |
R351H |
possibly damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,274,169 (GRCm39) |
D167G |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,580,568 (GRCm39) |
S701T |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,695,224 (GRCm39) |
E29G |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,000,057 (GRCm39) |
S830P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,727,921 (GRCm39) |
L2690* |
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,040,839 (GRCm39) |
S883T |
probably damaging |
Het |
| Rxfp4 |
A |
G |
3: 88,559,894 (GRCm39) |
W186R |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,395,476 (GRCm39) |
S200P |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,212 (GRCm39) |
D295E |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 119,996,301 (GRCm39) |
V932A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,430,329 (GRCm38) |
S1568P |
possibly damaging |
Het |
| Tox |
T |
G |
4: 6,697,600 (GRCm39) |
N401T |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,933,412 (GRCm39) |
|
probably null |
Het |
| Unc79 |
T |
G |
12: 103,013,311 (GRCm39) |
|
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,613 (GRCm39) |
I599N |
probably benign |
Het |
| Zfa-ps |
T |
A |
10: 52,419,654 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation