Incidental Mutation 'R3839:Gcnt4'
| ID |
277070 |
| 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 |
040892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R3839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97061197-97087414 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 97083522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 273
(R273*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171324]
|
| AlphaFold |
E9Q649 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000171324
AA Change: R273*
|
| SMART Domains |
Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: R273*
| 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 |
0.9701 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| Abraxas2 |
T |
A |
7: 132,484,867 (GRCm39) |
S303R |
probably benign |
Het |
| Ackr3 |
G |
A |
1: 90,141,850 (GRCm39) |
S103N |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,405,792 (GRCm39) |
H1560Y |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,722,700 (GRCm39) |
D122V |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,876,056 (GRCm39) |
V1011A |
probably benign |
Het |
| Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
| Cmbl |
T |
C |
15: 31,582,144 (GRCm39) |
V47A |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctnnd2 |
T |
A |
15: 31,009,174 (GRCm39) |
|
probably null |
Het |
| Cyp4a10 |
A |
C |
4: 115,382,544 (GRCm39) |
E278A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,217,712 (GRCm39) |
D3G |
probably benign |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Eif3d |
T |
A |
15: 77,848,300 (GRCm39) |
T211S |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Garnl3 |
C |
T |
2: 32,879,558 (GRCm39) |
G923S |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,808,962 (GRCm39) |
V228D |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,948,095 (GRCm39) |
|
probably null |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Msn |
C |
A |
X: 95,203,805 (GRCm39) |
Q303K |
probably damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Rala |
A |
T |
13: 18,067,759 (GRCm39) |
C91S |
probably damaging |
Het |
| Rps9 |
A |
G |
7: 3,709,823 (GRCm39) |
|
probably benign |
Het |
| Sdr16c5 |
C |
A |
4: 4,006,601 (GRCm39) |
M230I |
probably damaging |
Het |
| Sec14l3 |
A |
G |
11: 4,021,544 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
C |
16: 21,828,485 (GRCm39) |
S32P |
probably damaging |
Het |
| Skor1 |
A |
C |
9: 63,051,730 (GRCm39) |
S746R |
probably damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Slc47a1 |
G |
T |
11: 61,243,884 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,399,064 (GRCm39) |
N143I |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,704 (GRCm39) |
V217A |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,959,981 (GRCm39) |
I191V |
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 |
|
|
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'- TCAAGTCTTCCGTTCAGTGG -3'
(R):5'- TCCTGGTATCCGGATTAAGGTG -3'
Sequencing Primer
(F):5'- GAAGTACGTCATCAACCTCTGTGG -3'
(R):5'- TTAAGGTGGCCCAAAAGTGCTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation