Incidental Mutation 'R6139:Gcnt4'
ID |
488502 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044286-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R6139 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
97061197-97087414 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97083360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 219
(V219I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171324]
|
AlphaFold |
E9Q649 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000171324
AA Change: V219I
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000130496 Gene: ENSMUSG00000091387 AA Change: V219I
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
A |
G |
11: 117,697,150 (GRCm39) |
T250A |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,350,713 (GRCm39) |
I1074T |
probably damaging |
Het |
Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,821,842 (GRCm39) |
D747G |
probably damaging |
Het |
Antxr2 |
A |
C |
5: 98,125,565 (GRCm39) |
|
probably null |
Het |
Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
Asap1 |
T |
A |
15: 64,038,388 (GRCm39) |
I223F |
possibly damaging |
Het |
C2cd5 |
A |
C |
6: 142,980,784 (GRCm39) |
D669E |
probably damaging |
Het |
Casz1 |
C |
T |
4: 149,036,154 (GRCm39) |
T1472M |
probably damaging |
Het |
Catsper4 |
A |
G |
4: 133,945,177 (GRCm39) |
L154P |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,829,025 (GRCm39) |
E293G |
probably benign |
Het |
Cma1 |
T |
A |
14: 56,180,157 (GRCm39) |
|
probably null |
Het |
Ddx42 |
C |
T |
11: 106,130,843 (GRCm39) |
A439V |
probably damaging |
Het |
Disp2 |
T |
A |
2: 118,621,143 (GRCm39) |
L625Q |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,007,984 (GRCm39) |
D2141G |
probably benign |
Het |
Dsp |
T |
C |
13: 38,376,382 (GRCm39) |
I1389T |
probably damaging |
Het |
Fam81a |
A |
T |
9: 70,010,100 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,821,388 (GRCm39) |
D5707G |
possibly damaging |
Het |
Gk2 |
A |
G |
5: 97,604,139 (GRCm39) |
V233A |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,622,075 (GRCm39) |
|
probably benign |
Het |
Gsap |
T |
A |
5: 21,486,538 (GRCm39) |
V649D |
probably damaging |
Het |
Kif1b |
G |
A |
4: 149,321,989 (GRCm39) |
H977Y |
possibly damaging |
Het |
Ktn1 |
T |
A |
14: 47,963,672 (GRCm39) |
|
probably null |
Het |
Lgals12 |
T |
A |
19: 7,581,742 (GRCm39) |
T29S |
probably benign |
Het |
Me3 |
G |
T |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
Mgst3 |
T |
G |
1: 167,205,874 (GRCm39) |
K35T |
possibly damaging |
Het |
Mtmr9 |
T |
C |
14: 63,767,227 (GRCm39) |
R354G |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,033,738 (GRCm39) |
E1059G |
probably damaging |
Het |
Nr4a2 |
T |
A |
2: 56,998,701 (GRCm39) |
H408L |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,453 (GRCm39) |
T81S |
probably damaging |
Het |
Or5ak23 |
A |
T |
2: 85,244,690 (GRCm39) |
F178I |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,724,242 (GRCm39) |
L1275Q |
possibly damaging |
Het |
Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
Pop1 |
T |
A |
15: 34,529,204 (GRCm39) |
C745S |
probably benign |
Het |
Ptpn14 |
T |
G |
1: 189,583,362 (GRCm39) |
S736R |
probably benign |
Het |
Rdh9 |
A |
T |
10: 127,612,606 (GRCm39) |
T85S |
possibly damaging |
Het |
Rnf223 |
T |
C |
4: 156,217,260 (GRCm39) |
C212R |
probably damaging |
Het |
Rnf39 |
A |
G |
17: 37,254,230 (GRCm39) |
E84G |
probably damaging |
Het |
Sfmbt1 |
T |
A |
14: 30,533,375 (GRCm39) |
V584D |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,834,231 (GRCm39) |
S728T |
probably damaging |
Het |
Slc16a12 |
T |
A |
19: 34,648,295 (GRCm39) |
|
probably null |
Het |
Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
St7 |
T |
C |
6: 17,694,353 (GRCm39) |
L48P |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,379,572 (GRCm39) |
N951D |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
Ugt2b36 |
A |
T |
5: 87,240,030 (GRCm39) |
D118E |
probably benign |
Het |
Vmn2r7 |
G |
A |
3: 64,623,339 (GRCm39) |
T327I |
probably damaging |
Het |
Wdr70 |
T |
C |
15: 8,108,735 (GRCm39) |
D137G |
probably benign |
Het |
Wrn |
A |
T |
8: 33,843,360 (GRCm39) |
M14K |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,447,613 (GRCm39) |
E283V |
probably benign |
Het |
|
Other mutations in Gcnt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00950:Gcnt4
|
APN |
13 |
97,083,064 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGATGCCATTATGGTTGAGCG -3'
(R):5'- CACCTGTCTGAGCTCATGATG -3'
Sequencing Primer
(F):5'- GGTTGATCCGAGCTATTTACAACCAG -3'
(R):5'- CATGATGGTAGGTGAACCTCTCC -3'
|
Posted On |
2017-10-10 |