Incidental Mutation 'R9589:Gcnt1'
| ID |
722949 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
17303505-17350208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17307422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 101
(A101V)
|
| 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: A101V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: A101V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
34 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
123 |
392 |
9.3e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174236
AA Change: A101V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: A101V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
127 |
396 |
5.7e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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 |
|---|
| Adgrg3 |
A |
G |
8: 95,760,093 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahnak2 |
G |
T |
12: 112,746,831 (GRCm39) |
D1166E |
|
Het |
| C2cd3 |
T |
A |
7: 100,081,756 (GRCm39) |
S1133T |
|
Het |
| Ccdc17 |
A |
G |
4: 116,454,791 (GRCm39) |
Q168R |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,668,941 (GRCm39) |
I668N |
probably damaging |
Het |
| Fyb2 |
C |
A |
4: 104,872,833 (GRCm39) |
N735K |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,416,284 (GRCm39) |
S248P |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,372,840 (GRCm39) |
M3132K |
possibly damaging |
Het |
| Htra3 |
T |
C |
5: 35,821,409 (GRCm39) |
I323V |
probably damaging |
Het |
| Ighv11-2 |
A |
T |
12: 114,012,047 (GRCm39) |
V56D |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,237,701 (GRCm39) |
G340R |
probably damaging |
Het |
| Kcnk15 |
C |
T |
2: 163,700,127 (GRCm39) |
T122M |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,956,020 (GRCm39) |
Q658K |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,013,759 (GRCm39) |
I1303T |
possibly damaging |
Het |
| Kifc3 |
A |
T |
8: 95,861,372 (GRCm39) |
S94R |
possibly damaging |
Het |
| Lrrc63 |
A |
T |
14: 75,322,379 (GRCm39) |
F575Y |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,136,398 (GRCm39) |
S2405P |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,449,753 (GRCm39) |
T159A |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,519 (GRCm39) |
I1315F |
probably damaging |
Het |
| Or51a39 |
T |
C |
7: 102,363,372 (GRCm39) |
T83A |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,403,197 (GRCm39) |
F191I |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,854,918 (GRCm39) |
D51N |
possibly damaging |
Het |
| Ppp4r2 |
C |
T |
6: 100,838,409 (GRCm39) |
T109M |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,525,122 (GRCm39) |
S771P |
possibly damaging |
Het |
| Sec11a |
T |
C |
7: 80,565,899 (GRCm39) |
*171W |
probably null |
Het |
| Secisbp2l |
C |
A |
2: 125,589,425 (GRCm39) |
V708L |
probably benign |
Het |
| Secisbp2l |
T |
G |
2: 125,589,430 (GRCm39) |
D706A |
probably damaging |
Het |
| Shpk |
C |
T |
11: 73,104,267 (GRCm39) |
P139S |
possibly damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,816,323 (GRCm39) |
L352P |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Smg9 |
T |
G |
7: 24,120,246 (GRCm39) |
S407A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,338 (GRCm39) |
E121G |
probably damaging |
Het |
| Tmem237 |
G |
A |
1: 59,159,146 (GRCm39) |
P10S |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,519,659 (GRCm39) |
I433T |
probably benign |
Het |
| Zfp28 |
T |
A |
7: 6,392,816 (GRCm39) |
M164K |
probably benign |
Het |
| Zswim8 |
A |
G |
14: 20,763,171 (GRCm39) |
M357V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGCCACAAAGACATTATC -3'
(R):5'- TGTCAGACACTTGGAGCTG -3'
Sequencing Primer
(F):5'- CGCGGCTAAAAAGGATTCCTCTG -3'
(R):5'- AGACACTTGGAGCTGGCTGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation