Incidental Mutation 'R0853:Gcnt4'
| ID |
82632 |
| 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 |
039032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R0853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97061197-97087414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97083343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 213
(D213G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171324]
|
| AlphaFold |
E9Q649 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171324
AA Change: D213G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: D213G
| 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 |
0.7921 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.9%
|
| Validation Efficiency |
93% (42/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
G |
T |
9: 14,504,074 (GRCm39) |
P378Q |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,780,847 (GRCm39) |
E365G |
probably damaging |
Het |
| Asb6 |
G |
A |
2: 30,717,042 (GRCm39) |
P61L |
possibly damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,089,465 (GRCm38) |
|
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,522,664 (GRCm39) |
I290N |
probably damaging |
Het |
| Ccser2 |
A |
C |
14: 36,662,367 (GRCm39) |
S272R |
probably benign |
Het |
| Cfh |
T |
A |
1: 140,033,228 (GRCm39) |
H772L |
probably damaging |
Het |
| Cldn6 |
T |
G |
17: 23,900,438 (GRCm39) |
I134S |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,382,484 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
T |
C |
15: 84,932,726 (GRCm39) |
F156S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,292,251 (GRCm39) |
|
probably benign |
Het |
| Gckr |
G |
C |
5: 31,462,392 (GRCm39) |
A242P |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,779 (GRCm39) |
V237E |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,853,549 (GRCm39) |
L570P |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,107,495 (GRCm39) |
K827* |
probably null |
Het |
| Hyal6 |
T |
C |
6: 24,734,072 (GRCm39) |
F2L |
probably benign |
Het |
| Jak2 |
C |
A |
19: 29,262,326 (GRCm39) |
Y382* |
probably null |
Het |
| Kat8 |
C |
T |
7: 127,524,396 (GRCm39) |
H425Y |
probably benign |
Het |
| Kcnj3 |
T |
C |
2: 55,327,235 (GRCm39) |
F8S |
possibly damaging |
Het |
| Klk1 |
T |
A |
7: 43,870,922 (GRCm39) |
|
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,095,977 (GRCm39) |
Y205C |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,078,237 (GRCm39) |
E26G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,132 (GRCm39) |
S781P |
probably benign |
Het |
| Nqo2 |
A |
T |
13: 34,163,560 (GRCm39) |
H73L |
probably benign |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,412,080 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
G |
18: 37,442,938 (GRCm39) |
Y749* |
probably null |
Het |
| Pdgfrb |
C |
A |
18: 61,213,399 (GRCm39) |
N914K |
probably damaging |
Het |
| Ralyl |
A |
G |
3: 14,011,566 (GRCm39) |
Y4C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,559,503 (GRCm39) |
I1052N |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,712,241 (GRCm39) |
T1642I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,926,942 (GRCm39) |
T207M |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,564,827 (GRCm39) |
L148P |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Tdp1 |
G |
A |
12: 99,901,326 (GRCm39) |
R536H |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,599 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,324 (GRCm39) |
T302K |
probably damaging |
Het |
| Zfp1002 |
A |
T |
2: 150,097,398 (GRCm39) |
S38R |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGACCTGAAGTCACCGGACACG -3'
(R):5'- GGCACTGCCCACAAATACCTGAATG -3'
Sequencing Primer
(F):5'- GGACACGTTCAAAGCTGC -3'
(R):5'- ATCATAAGGCACCTGTCTGAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation