Incidental Mutation 'R0741:Gcnt4'
ID |
70701 |
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 |
038922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R0741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
97061197-97087414 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 97082940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 79
(E79*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171324]
|
AlphaFold |
E9Q649 |
Predicted Effect |
probably null
Transcript: ENSMUST00000171324
AA Change: E79*
|
SMART Domains |
Protein: ENSMUSP00000130496 Gene: ENSMUSG00000091387 AA Change: E79*
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCACTCAGCACTCTGTGGGATG -3'
(R):5'- TGGACGACCAGCGAATAGGCTATG -3'
Sequencing Primer
(F):5'- GTACCCAGTAAACTTGGGATAAAC -3'
(R):5'- CGAATAGGCTATGGGGAAGTCC -3'
|
Posted On |
2013-09-30 |