Incidental Mutation 'R6630:A4gnt'
| ID |
525059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A4gnt
|
| Ensembl Gene |
ENSMUSG00000037953 |
| Gene Name |
alpha-1,4-N-acetylglucosaminyltransferase |
| Synonyms |
alpha4GnT, LOC333424 |
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99494555-99504420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99495971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 136
(T136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042553]
|
| AlphaFold |
Q14BT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042553
AA Change: T136A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: T136A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
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 |
|
R4130:A4gnt
|
UTSW |
9 |
99,502,671 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
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'- CTGCTGCTAAAATCTATCCTGAGC -3'
(R):5'- AGTGCAATTGCCAACGAGAATG -3'
Sequencing Primer
(F):5'- CAGCCCATCATCTTCTTCATGAAAGG -3'
(R):5'- TGCCAACGAGAATGACATTTACCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation