Incidental Mutation 'R6535:B4gat1'
| ID |
520371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4gat1
|
| Ensembl Gene |
ENSMUSG00000047379 |
| Gene Name |
beta-1,4-glucuronyltransferase 1 |
| Synonyms |
1500032M01Rik, iGNT, B3gnt1, B3gnt6, BETA3GNT1 |
| MMRRC Submission |
044661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5088854-5091159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5089558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 185
(V185A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053705]
[ENSMUST00000116567]
|
| AlphaFold |
Q8BWP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053705
AA Change: V185A
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: V185A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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 |
|---|
| Adgrf5 |
G |
A |
17: 43,750,920 (GRCm39) |
S495N |
probably benign |
Het |
| Ank3 |
G |
T |
10: 69,713,684 (GRCm39) |
A448S |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,781,950 (GRCm39) |
*47W |
probably null |
Het |
| Cers1 |
T |
A |
8: 70,782,804 (GRCm39) |
V58D |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,437 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,751,122 (GRCm39) |
E177V |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,415,788 (GRCm39) |
|
probably null |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,070,570 (GRCm39) |
L400P |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,493,924 (GRCm39) |
S2P |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,351 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 26,980,127 (GRCm39) |
L1896R |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,644,074 (GRCm39) |
S81G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,365,728 (GRCm39) |
V3011D |
possibly damaging |
Het |
| Macrod1 |
A |
G |
19: 7,034,515 (GRCm39) |
D86G |
probably damaging |
Het |
| Mettl8 |
G |
T |
2: 70,803,733 (GRCm39) |
H185N |
possibly damaging |
Het |
| Mipol1 |
A |
C |
12: 57,352,886 (GRCm39) |
Q75P |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,118,900 (GRCm39) |
V125M |
probably damaging |
Het |
| Pole |
A |
C |
5: 110,472,673 (GRCm39) |
Y1618S |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,381,241 (GRCm39) |
V21A |
unknown |
Het |
| Rhbdl1 |
A |
T |
17: 26,054,799 (GRCm39) |
Y111* |
probably null |
Het |
| Sbk3 |
A |
C |
7: 4,972,840 (GRCm39) |
M110R |
possibly damaging |
Het |
| Scn8a |
G |
A |
15: 100,857,588 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,190 (GRCm39) |
S10P |
probably damaging |
Het |
| Tshz3 |
T |
C |
7: 36,468,214 (GRCm39) |
S68P |
probably damaging |
Het |
| Vmn1r88 |
C |
T |
7: 12,912,112 (GRCm39) |
T156I |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,826,131 (GRCm39) |
H177R |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACACCTGTCCGGACTTCTG -3'
(R):5'- CTGATCCAACATTTCCCTCAGG -3'
Sequencing Primer
(F):5'- GTTTCAGTGTTCGCGGCCAC -3'
(R):5'- TCAGGCCTCTCCACAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation