Incidental Mutation 'R4130:A4gnt'
ID |
315509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
A4gnt
|
Ensembl Gene |
ENSMUSG00000037953 |
Gene Name |
alpha-1,4-N-acetylglucosaminyltransferase |
Synonyms |
alpha4GnT, LOC333424 |
MMRRC Submission |
041636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R4130 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
99494555-99504420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99502671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 277
(D277G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042553]
|
AlphaFold |
Q14BT6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042553
AA Change: D277G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045629 Gene: ENSMUSG00000037953 AA Change: D277G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
24 |
N/A |
INTRINSIC |
Pfam:Gly_transf_sug
|
65 |
188 |
4e-26 |
PFAM |
Pfam:Gb3_synth
|
197 |
324 |
2.5e-49 |
PFAM |
|
Meta Mutation Damage Score |
0.1902 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (29/29) |
MGI Phenotype |
FUNCTION: This gene encodes a protein from the glycosyltransferase 32 family. The encoded enzyme catalyzes the transfer of N-acetylglucosamine to alpha-1,4-linked beta-galactose residues. This enzyme is required for type III mucin synthesis and it is largely associated with the Golgi apparatus membrane. The encoded protein appears to be expressed in adenocarcinoma cells of pancreatic, biliary tract and gastric cancers.[provided by RefSeq, Jan 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in A4gnt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00979:A4gnt
|
APN |
9 |
99,502,489 (GRCm39) |
nonsense |
probably null |
|
IGL01509:A4gnt
|
APN |
9 |
99,495,819 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02335:A4gnt
|
APN |
9 |
99,502,266 (GRCm39) |
missense |
probably benign |
|
IGL03339:A4gnt
|
APN |
9 |
99,502,601 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4466001:A4gnt
|
UTSW |
9 |
99,502,613 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4472001:A4gnt
|
UTSW |
9 |
99,502,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R2027:A4gnt
|
UTSW |
9 |
99,502,254 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2061:A4gnt
|
UTSW |
9 |
99,502,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R4131:A4gnt
|
UTSW |
9 |
99,502,671 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5249:A4gnt
|
UTSW |
9 |
99,502,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R5338:A4gnt
|
UTSW |
9 |
99,502,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5672:A4gnt
|
UTSW |
9 |
99,502,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5785:A4gnt
|
UTSW |
9 |
99,502,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R6519:A4gnt
|
UTSW |
9 |
99,495,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6630:A4gnt
|
UTSW |
9 |
99,495,971 (GRCm39) |
missense |
probably benign |
0.00 |
R7296:A4gnt
|
UTSW |
9 |
99,502,335 (GRCm39) |
missense |
probably damaging |
0.97 |
R7514:A4gnt
|
UTSW |
9 |
99,502,598 (GRCm39) |
missense |
probably benign |
0.05 |
R7731:A4gnt
|
UTSW |
9 |
99,502,470 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9311:A4gnt
|
UTSW |
9 |
99,495,816 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9786:A4gnt
|
UTSW |
9 |
99,502,536 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1088:A4gnt
|
UTSW |
9 |
99,495,894 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGAACTTTGTAGAGCACTATG -3'
(R):5'- TCTCTACCTGGAACCTGTGC -3'
Sequencing Primer
(F):5'- GCACTATGACTCAACCATTTGGGG -3'
(R):5'- GCCTGGCTTCTTGGACACTG -3'
|
Posted On |
2015-05-14 |