Incidental Mutation 'R1608:B3gat1'
| ID |
176631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gat1
|
| Ensembl Gene |
ENSMUSG00000045994 |
| Gene Name |
beta-1,3-glucuronyltransferase 1 |
| Synonyms |
0710007K08Rik, GlcAT-P |
| MMRRC Submission |
039645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R1608 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
26644813-26672646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26663112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 13
(I13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115269]
[ENSMUST00000159799]
[ENSMUST00000160899]
[ENSMUST00000161115]
[ENSMUST00000161431]
|
| AlphaFold |
Q9CW73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115269
AA Change: I26T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: I26T
| 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 damaging
Transcript: ENSMUST00000159799
AA Change: I26T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: I26T
| 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 damaging
Transcript: ENSMUST00000160899
AA Change: I26T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: I26T
| 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 |
probably damaging
Transcript: ENSMUST00000161115
AA Change: I13T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: I13T
| 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 |
probably damaging
Transcript: ENSMUST00000161431
AA Change: I13T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
AA Change: I13T
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,813,775 (GRCm39) |
S797P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,783 (GRCm39) |
Y829H |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,279,375 (GRCm39) |
D74G |
probably damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,374,448 (GRCm39) |
V99D |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,309,799 (GRCm39) |
C1600Y |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,078 (GRCm39) |
N291K |
probably damaging |
Het |
| Dennd1a |
T |
G |
2: 37,742,446 (GRCm39) |
M3L |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,488,147 (GRCm39) |
P1017L |
probably damaging |
Het |
| Dnajc6 |
A |
T |
4: 101,456,364 (GRCm39) |
D86V |
probably damaging |
Het |
| Evx2 |
T |
G |
2: 74,488,195 (GRCm39) |
K208N |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,052,785 (GRCm39) |
V718A |
probably damaging |
Het |
| Fcho2 |
T |
C |
13: 98,862,706 (GRCm39) |
D757G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,232,094 (GRCm39) |
W424* |
probably null |
Het |
| Gata3 |
G |
T |
2: 9,879,579 (GRCm39) |
Y97* |
probably null |
Het |
| Gm15446 |
T |
A |
5: 110,090,323 (GRCm39) |
C192S |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,009,521 (GRCm39) |
D470E |
probably benign |
Het |
| Ier2 |
A |
G |
8: 85,389,055 (GRCm39) |
L109P |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,217 (GRCm39) |
T559A |
probably benign |
Het |
| Khk |
C |
T |
5: 31,087,938 (GRCm39) |
A204V |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,507,321 (GRCm39) |
M1169K |
possibly damaging |
Het |
| Krtap31-1 |
A |
G |
11: 99,798,919 (GRCm39) |
S41G |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,512,162 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,913,039 (GRCm39) |
D939G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,309 (GRCm39) |
N82I |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,340,974 (GRCm39) |
I1089T |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,424 (GRCm39) |
D558E |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,112 (GRCm39) |
D168G |
probably benign |
Het |
| Shisa8 |
G |
A |
15: 82,092,756 (GRCm39) |
P189L |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,054,204 (GRCm39) |
V89A |
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,950,457 (GRCm39) |
A332T |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,291,496 (GRCm39) |
Y373* |
probably null |
Het |
| Slf2 |
T |
C |
19: 44,937,440 (GRCm39) |
V722A |
probably benign |
Het |
| Spanxn4 |
A |
G |
12: 62,734,624 (GRCm39) |
|
noncoding transcript |
Het |
| Stag3 |
T |
A |
5: 138,296,901 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,628,038 (GRCm39) |
I612T |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,906,043 (GRCm39) |
M286L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,545,515 (GRCm39) |
N294K |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,302,644 (GRCm39) |
L1381V |
probably damaging |
Het |
| Trpm8 |
T |
G |
1: 88,254,154 (GRCm39) |
S126A |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,857 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Ubox5 |
C |
T |
2: 130,439,376 (GRCm39) |
G418D |
probably benign |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,907 (GRCm39) |
V57A |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,500 (GRCm39) |
H628R |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,216 (GRCm39) |
I231V |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCAACTTGCTTCCGCAATG -3'
(R):5'- AGCAGCTTCTGTGGCCTTTGTC -3'
Sequencing Primer
(F):5'- GGCCAGTGTTCGGCTTC -3'
(R):5'- agaaagaagaggaggagggg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation