Incidental Mutation 'IGL00950:Gcnt4'
ID |
28877 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gcnt4
|
Ensembl Gene |
ENSMUSG00000091387 |
Gene Name |
glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) |
Synonyms |
LOC238786, C2GNT3, Gm73, LOC218476 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
IGL00950
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
97061197-97087414 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97083064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 120
(Y120C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171324]
|
AlphaFold |
E9Q649 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171324
AA Change: Y120C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130496 Gene: ENSMUSG00000091387 AA Change: Y120C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
Pfam:Branch
|
134 |
403 |
1.1e-52 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222094
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display neutrophilia, increased aggression towards males, reduced serum thyroxine levels, and altered O-glycan structures in the stomach, colon, and small intestine. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,272,295 (GRCm39) |
C25* |
probably null |
Het |
Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
Het |
|
Other mutations in Gcnt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02677:Gcnt4
|
APN |
13 |
97,083,741 (GRCm39) |
missense |
probably benign |
|
IGL02936:Gcnt4
|
APN |
13 |
97,082,919 (GRCm39) |
missense |
probably benign |
0.00 |
R0332:Gcnt4
|
UTSW |
13 |
97,083,018 (GRCm39) |
missense |
probably benign |
0.01 |
R0741:Gcnt4
|
UTSW |
13 |
97,082,940 (GRCm39) |
nonsense |
probably null |
|
R0853:Gcnt4
|
UTSW |
13 |
97,083,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Gcnt4
|
UTSW |
13 |
97,082,974 (GRCm39) |
missense |
probably damaging |
0.99 |
R3837:Gcnt4
|
UTSW |
13 |
97,083,522 (GRCm39) |
nonsense |
probably null |
|
R3838:Gcnt4
|
UTSW |
13 |
97,083,522 (GRCm39) |
nonsense |
probably null |
|
R3839:Gcnt4
|
UTSW |
13 |
97,083,522 (GRCm39) |
nonsense |
probably null |
|
R4434:Gcnt4
|
UTSW |
13 |
97,082,850 (GRCm39) |
missense |
probably benign |
0.00 |
R4611:Gcnt4
|
UTSW |
13 |
97,082,990 (GRCm39) |
missense |
probably benign |
|
R4782:Gcnt4
|
UTSW |
13 |
97,083,914 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5853:Gcnt4
|
UTSW |
13 |
97,083,160 (GRCm39) |
missense |
probably benign |
0.01 |
R6013:Gcnt4
|
UTSW |
13 |
97,083,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6139:Gcnt4
|
UTSW |
13 |
97,083,360 (GRCm39) |
missense |
probably benign |
0.16 |
R6329:Gcnt4
|
UTSW |
13 |
97,083,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Gcnt4
|
UTSW |
13 |
97,083,027 (GRCm39) |
missense |
probably damaging |
0.98 |
R7217:Gcnt4
|
UTSW |
13 |
97,082,818 (GRCm39) |
missense |
probably damaging |
0.98 |
R7497:Gcnt4
|
UTSW |
13 |
97,083,468 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7509:Gcnt4
|
UTSW |
13 |
97,083,678 (GRCm39) |
missense |
probably benign |
0.28 |
R7592:Gcnt4
|
UTSW |
13 |
97,083,669 (GRCm39) |
missense |
probably benign |
0.02 |
R8673:Gcnt4
|
UTSW |
13 |
97,082,997 (GRCm39) |
missense |
probably benign |
0.24 |
R8907:Gcnt4
|
UTSW |
13 |
97,083,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Gcnt4
|
UTSW |
13 |
97,083,042 (GRCm39) |
missense |
probably benign |
|
R9371:Gcnt4
|
UTSW |
13 |
97,083,634 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9464:Gcnt4
|
UTSW |
13 |
97,083,493 (GRCm39) |
missense |
probably benign |
0.00 |
R9780:Gcnt4
|
UTSW |
13 |
97,083,948 (GRCm39) |
missense |
probably benign |
0.17 |
R9789:Gcnt4
|
UTSW |
13 |
97,083,429 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Gcnt4
|
UTSW |
13 |
97,082,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2013-04-17 |