Incidental Mutation 'IGL02339:B4gat1'
| ID |
288997 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B4gat1
|
| Ensembl Gene |
ENSMUSG00000047379 |
| Gene Name |
beta-1,4-glucuronyltransferase 1 |
| Synonyms |
1500032M01Rik, iGNT, B3gnt1, B3gnt6, BETA3GNT1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5088854-5091159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5089446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 148
(E148K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053705]
[ENSMUST00000116567]
|
| AlphaFold |
Q8BWP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053705
AA Change: E148K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: E148K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
94 |
409 |
3.8e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116567
|
| SMART Domains |
Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
59 |
N/A |
INTRINSIC |
|
Pfam:Sds3
|
60 |
209 |
5.3e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display altered lymphocyte rolling and abnormal lymph node B and T cell numbers. Mice homozygous for a hypomorphic allele exhibit mild muscular dystrophy, abnormal axon guidance and fasciculation and abnormal dorsal funiculus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
A |
6: 23,093,965 (GRCm39) |
V119F |
probably damaging |
Het |
| Abcg5 |
T |
C |
17: 84,981,032 (GRCm39) |
I186V |
possibly damaging |
Het |
| Ccr6 |
A |
T |
17: 8,475,085 (GRCm39) |
T97S |
probably benign |
Het |
| Cd209f |
A |
C |
8: 4,154,483 (GRCm39) |
|
probably null |
Het |
| Chst1 |
T |
A |
2: 92,443,922 (GRCm39) |
D131E |
possibly damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,581,385 (GRCm39) |
S546P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,078,881 (GRCm39) |
Y2361H |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,857,228 (GRCm39) |
T333I |
probably damaging |
Het |
| Glt8d1 |
C |
A |
14: 30,730,767 (GRCm39) |
T91K |
probably damaging |
Het |
| Gm4952 |
G |
A |
19: 12,604,275 (GRCm39) |
R229Q |
probably damaging |
Het |
| Gm5117 |
T |
C |
8: 32,228,254 (GRCm39) |
|
noncoding transcript |
Het |
| Gp5 |
T |
C |
16: 30,128,008 (GRCm39) |
E222G |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,771,470 (GRCm39) |
D1077E |
probably benign |
Het |
| Hfe |
T |
C |
13: 23,888,373 (GRCm39) |
E171G |
probably damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,678 (GRCm39) |
V209A |
probably damaging |
Het |
| Ktn1 |
A |
T |
14: 47,920,835 (GRCm39) |
|
probably benign |
Het |
| Med13 |
T |
C |
11: 86,179,765 (GRCm39) |
I1394M |
probably benign |
Het |
| Meioc |
T |
G |
11: 102,559,274 (GRCm39) |
S65R |
probably benign |
Het |
| Myof |
T |
C |
19: 37,960,661 (GRCm39) |
Y460C |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,087,588 (GRCm39) |
T43S |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,314,324 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,685,724 (GRCm39) |
Q61P |
probably damaging |
Het |
| Rab29 |
A |
G |
1: 131,799,880 (GRCm39) |
T152A |
probably benign |
Het |
| Rest |
A |
G |
5: 77,423,135 (GRCm39) |
H313R |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,085,091 (GRCm39) |
Y531H |
probably damaging |
Het |
| St3gal3 |
T |
C |
4: 117,815,759 (GRCm39) |
T148A |
probably damaging |
Het |
| Stxbp5 |
C |
T |
10: 9,692,041 (GRCm39) |
V368I |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 120,331,019 (GRCm39) |
D33G |
probably damaging |
Het |
| Trim38 |
G |
A |
13: 23,972,213 (GRCm39) |
R178Q |
probably damaging |
Het |
| Uvssa |
A |
T |
5: 33,572,193 (GRCm39) |
K704N |
probably damaging |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,645 (GRCm39) |
Q29* |
probably null |
Het |
| Ypel2 |
T |
C |
11: 86,831,429 (GRCm39) |
D119G |
possibly damaging |
Het |
|
| Other mutations in B4gat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:B4gat1
|
APN |
19 |
5,090,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:B4gat1
|
APN |
19 |
5,089,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02717:B4gat1
|
APN |
19 |
5,088,997 (GRCm39) |
unclassified |
probably benign |
|
|
R0063:B4gat1
|
UTSW |
19 |
5,089,735 (GRCm39) |
nonsense |
probably null |
|
|
R0827:B4gat1
|
UTSW |
19 |
5,089,725 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5888:B4gat1
|
UTSW |
19 |
5,089,560 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5901:B4gat1
|
UTSW |
19 |
5,089,241 (GRCm39) |
nonsense |
probably null |
|
|
R6535:B4gat1
|
UTSW |
19 |
5,089,558 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6988:B4gat1
|
UTSW |
19 |
5,090,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7342:B4gat1
|
UTSW |
19 |
5,089,686 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8967:B4gat1
|
UTSW |
19 |
5,089,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9057:B4gat1
|
UTSW |
19 |
5,089,056 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9541:B4gat1
|
UTSW |
19 |
5,089,896 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9572:B4gat1
|
UTSW |
19 |
5,089,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9719:B4gat1
|
UTSW |
19 |
5,090,516 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation