Incidental Mutation 'IGL02140:B3gat1'
| ID |
281514 |
| 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 # |
IGL02140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26644813-26672646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26669043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 325
(K325E)
|
| 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: K338E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: K338E
| 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: K338E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: K338E
| 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: K338E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: K338E
| 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: K325E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: K325E
| 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: K325E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
AA Change: K325E
| 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 |
|---|
| 2700049A03Rik |
G |
A |
12: 71,195,034 (GRCm39) |
V144I |
probably benign |
Het |
| Cd36 |
T |
A |
5: 18,033,766 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
A |
G |
8: 105,782,263 (GRCm39) |
E325G |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,639 (GRCm39) |
G136D |
unknown |
Het |
| Cyp3a25 |
T |
G |
5: 145,946,273 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,039,690 (GRCm39) |
L321P |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,095,391 (GRCm39) |
S34P |
probably damaging |
Het |
| Defa27 |
A |
T |
8: 21,805,674 (GRCm39) |
K13* |
probably null |
Het |
| Disp2 |
T |
C |
2: 118,621,350 (GRCm39) |
F694S |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,437,732 (GRCm39) |
A454S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,147,791 (GRCm39) |
D946E |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,791,379 (GRCm39) |
E880G |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,308,992 (GRCm39) |
V371A |
probably benign |
Het |
| Frem3 |
G |
T |
8: 81,340,736 (GRCm39) |
V1010F |
possibly damaging |
Het |
| Gm13283 |
G |
A |
4: 88,679,272 (GRCm39) |
V88I |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,945 (GRCm39) |
V260I |
probably benign |
Het |
| Grhl2 |
A |
G |
15: 37,270,830 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,820,920 (GRCm39) |
W1090R |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,293,570 (GRCm39) |
V3506I |
probably benign |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Iglv3 |
T |
A |
16: 19,060,160 (GRCm39) |
Q56L |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,079,831 (GRCm39) |
M436K |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,359,113 (GRCm39) |
K1110N |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,959,776 (GRCm39) |
E694G |
probably damaging |
Het |
| Nup37 |
A |
C |
10: 87,994,791 (GRCm39) |
K118T |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,366,481 (GRCm39) |
M1T |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,420,586 (GRCm39) |
E291G |
probably damaging |
Het |
| P3h1 |
A |
G |
4: 119,095,062 (GRCm39) |
D273G |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,311,843 (GRCm39) |
D178G |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,406,660 (GRCm39) |
K53R |
probably damaging |
Het |
| Pkp3 |
T |
G |
7: 140,669,249 (GRCm39) |
L697R |
probably damaging |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,866 (GRCm39) |
V429A |
probably benign |
Het |
| Rgl2 |
A |
G |
17: 34,152,098 (GRCm39) |
N295S |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,206,459 (GRCm39) |
D817V |
possibly damaging |
Het |
| Tas2r117 |
C |
A |
6: 132,780,558 (GRCm39) |
T232K |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
| Timd4 |
T |
A |
11: 46,710,841 (GRCm39) |
S248T |
possibly damaging |
Het |
| Tmem207 |
A |
T |
16: 26,335,490 (GRCm39) |
N82K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,538,557 (GRCm39) |
T34714S |
possibly damaging |
Het |
| Vmn1r194 |
G |
A |
13: 22,428,706 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,757,631 (GRCm39) |
S166R |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,696 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,505 (GRCm39) |
Q739L |
probably benign |
Het |
|
| Other mutations in B3gat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:B3gat1
|
APN |
9 |
26,667,206 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01357:B3gat1
|
APN |
9 |
26,668,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation