Incidental Mutation 'IGL01323:B3gat1'
| ID |
74120 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B3gat1
|
| Ensembl Gene |
ENSMUSG00000045994 |
| Gene Name |
beta-1,3-glucuronyltransferase 1 |
| Synonyms |
0710007K08Rik, GlcAT-P |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL01323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26644813-26672646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26667206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 146
(V146A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115269]
[ENSMUST00000159799]
[ENSMUST00000160899]
[ENSMUST00000161115]
[ENSMUST00000161431]
|
| AlphaFold |
Q9CW73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115269
AA Change: V159A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: V159A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
118 |
329 |
6.6e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159527
|
| SMART Domains |
Protein: ENSMUSP00000125401
Gene: ENSMUSG00000045994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_43
|
48 |
259 |
2.1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159799
AA Change: V159A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: V159A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
118 |
329 |
6.6e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160899
AA Change: V159A
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: V159A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
118 |
328 |
1.7e-77 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161115
AA Change: V146A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: V146A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
105 |
316 |
3.7e-85 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161431
AA Change: V146A
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
AA Change: V146A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
105 |
202 |
1.9e-34 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced long term potentiation and impaired spatial learning. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Ascl2 |
A |
G |
7: 142,522,125 (GRCm39) |
S108P |
probably benign |
Het |
| Barhl1 |
C |
T |
2: 28,805,558 (GRCm39) |
S45N |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,929,920 (GRCm39) |
A2370V |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,766,602 (GRCm39) |
D67G |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,762,086 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,311,757 (GRCm39) |
Q247R |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,801,118 (GRCm39) |
V100D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,739,612 (GRCm39) |
T3A |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,484,038 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 82,937,518 (GRCm39) |
S132P |
probably damaging |
Het |
| Gpr6 |
T |
A |
10: 40,947,555 (GRCm39) |
N9I |
possibly damaging |
Het |
| Gvin2 |
A |
G |
7: 105,546,009 (GRCm39) |
S2348P |
possibly damaging |
Het |
| Hacd3 |
A |
G |
9: 64,905,587 (GRCm39) |
F184L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,413,819 (GRCm39) |
I132T |
possibly damaging |
Het |
| Igfbp7 |
A |
G |
5: 77,499,884 (GRCm39) |
|
probably benign |
Het |
| Ighv8-6 |
T |
C |
12: 115,129,477 (GRCm39) |
D93G |
possibly damaging |
Het |
| Izumo3 |
A |
G |
4: 92,034,627 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,716,165 (GRCm39) |
T347A |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,128,787 (GRCm39) |
T419A |
probably benign |
Het |
| Krt34 |
A |
G |
11: 99,929,606 (GRCm39) |
S267P |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,828,716 (GRCm39) |
K383Q |
probably damaging |
Het |
| Lgals7 |
G |
T |
7: 28,564,989 (GRCm39) |
E42D |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,356,293 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtif2 |
T |
A |
11: 29,491,447 (GRCm39) |
S557R |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,545,320 (GRCm39) |
F83I |
probably benign |
Het |
| Oosp2 |
A |
G |
19: 11,624,825 (GRCm39) |
L155S |
probably damaging |
Het |
| Or1o1 |
G |
T |
17: 37,717,031 (GRCm39) |
M197I |
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,943,760 (GRCm39) |
T1180S |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,089,498 (GRCm39) |
F79I |
possibly damaging |
Het |
| Prph |
G |
A |
15: 98,956,517 (GRCm39) |
S465N |
possibly damaging |
Het |
| Purg |
A |
T |
8: 33,876,631 (GRCm39) |
I90L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,037,136 (GRCm39) |
Q305K |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,144,280 (GRCm39) |
S816N |
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| Tmem201 |
G |
A |
4: 149,804,045 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
G |
A |
7: 143,197,111 (GRCm39) |
P76L |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,591,600 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
G |
11: 9,086,100 (GRCm39) |
*312W |
probably null |
Het |
| Wdfy3 |
G |
T |
5: 102,042,930 (GRCm39) |
S1940R |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,469,335 (GRCm39) |
Y804C |
probably damaging |
Het |
| Xrn2 |
C |
T |
2: 146,876,767 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,354,945 (GRCm39) |
D1275E |
possibly damaging |
Het |
|
| Other mutations in B3gat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01357:B3gat1
|
APN |
9 |
26,668,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02140:B3gat1
|
APN |
9 |
26,669,043 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0098:B3gat1
|
UTSW |
9 |
26,668,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:B3gat1
|
UTSW |
9 |
26,668,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:B3gat1
|
UTSW |
9 |
26,667,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:B3gat1
|
UTSW |
9 |
26,667,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0944:B3gat1
|
UTSW |
9 |
26,668,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:B3gat1
|
UTSW |
9 |
26,663,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:B3gat1
|
UTSW |
9 |
26,667,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3401:B3gat1
|
UTSW |
9 |
26,667,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:B3gat1
|
UTSW |
9 |
26,668,324 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4669:B3gat1
|
UTSW |
9 |
26,663,052 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4803:B3gat1
|
UTSW |
9 |
26,666,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4942:B3gat1
|
UTSW |
9 |
26,666,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6818:B3gat1
|
UTSW |
9 |
26,662,998 (GRCm39) |
start gained |
probably benign |
|
|
R7912:B3gat1
|
UTSW |
9 |
26,666,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8217:B3gat1
|
UTSW |
9 |
26,668,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:B3gat1
|
UTSW |
9 |
26,663,069 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation