Incidental Mutation 'IGL02717:B4gat1'
| ID |
304825 |
| 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 # |
IGL02717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5088854-5091159 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 5088997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053705]
[ENSMUST00000116567]
|
| AlphaFold |
Q8BWP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053705
|
| SMART Domains |
Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
G |
A |
14: 54,499,079 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,456,094 (GRCm39) |
N574I |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
| Cdh18 |
A |
T |
15: 23,410,801 (GRCm39) |
R429* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,223 (GRCm39) |
N423S |
probably damaging |
Het |
| Eef1a2 |
A |
C |
2: 180,794,694 (GRCm39) |
D168E |
probably benign |
Het |
| Eif4g2 |
A |
G |
7: 110,677,320 (GRCm39) |
I205T |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,845,763 (GRCm39) |
I409V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,781,370 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,043,559 (GRCm39) |
T52A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,279,203 (GRCm39) |
L37* |
probably null |
Het |
| Hoxc4 |
A |
G |
15: 102,943,273 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ifna16 |
T |
C |
4: 88,594,777 (GRCm39) |
D106G |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,005,666 (GRCm39) |
T498K |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,282,869 (GRCm39) |
T1031M |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,631,104 (GRCm39) |
R297L |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,439,116 (GRCm39) |
I46N |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,856,213 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,843,102 (GRCm39) |
V212E |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,315 (GRCm39) |
T4A |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,536,970 (GRCm39) |
R439C |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,358,076 (GRCm39) |
T722S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,392,439 (GRCm39) |
V332I |
possibly damaging |
Het |
| Taar7b |
T |
C |
10: 23,876,258 (GRCm39) |
I141T |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,601 (GRCm39) |
Y104C |
probably 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 |
|
IGL02339:B4gat1
|
APN |
19 |
5,089,446 (GRCm39) |
missense |
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