Incidental Mutation 'IGL00786:B3gat3'
ID |
13318 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
B3gat3
|
Ensembl Gene |
ENSMUSG00000071649 |
Gene Name |
beta-1,3-glucuronyltransferase 3 |
Synonyms |
GlcAT-I, 2810405M13Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00786
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
8897740-8904600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8904149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 320
(E320G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093962
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096241]
[ENSMUST00000096242]
[ENSMUST00000096243]
[ENSMUST00000224272]
|
AlphaFold |
P58158 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096241
|
SMART Domains |
Protein: ENSMUSP00000093960 Gene: ENSMUSG00000071647
Domain | Start | End | E-Value | Type |
coiled coil region
|
12 |
47 |
N/A |
INTRINSIC |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
low complexity region
|
149 |
168 |
N/A |
INTRINSIC |
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
Pfam:HELP
|
215 |
286 |
5.3e-30 |
PFAM |
WD40
|
295 |
344 |
6.34e-2 |
SMART |
Blast:WD40
|
347 |
392 |
5e-22 |
BLAST |
WD40
|
395 |
434 |
1.56e-1 |
SMART |
WD40
|
450 |
487 |
2.64e2 |
SMART |
WD40
|
504 |
543 |
3.33e-1 |
SMART |
WD40
|
587 |
626 |
2.69e-5 |
SMART |
WD40
|
670 |
709 |
1.7e-2 |
SMART |
WD40
|
716 |
755 |
1.52e-4 |
SMART |
WD40
|
829 |
869 |
1.29e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096242
|
SMART Domains |
Protein: ENSMUSP00000093961 Gene: ENSMUSG00000071648
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Tetraspannin
|
17 |
291 |
1e-18 |
PFAM |
low complexity region
|
331 |
346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096243
AA Change: E320G
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093962 Gene: ENSMUSG00000071649 AA Change: E320G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_43
|
96 |
312 |
1.8e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224272
|
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, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013] PHENOTYPE: Homozygous mutants die prenatally before the 8-cell stage due to failed cytokinesis, and show reduction of the synthesis of chondroitin sulfate and heparan sulfate glycosaminoglycans. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
C |
2: 35,265,851 (GRCm39) |
N242S |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,120,522 (GRCm39) |
A3646E |
probably damaging |
Het |
Akt1 |
C |
A |
12: 112,624,105 (GRCm39) |
G233V |
probably damaging |
Het |
Bltp3a |
T |
A |
17: 28,098,266 (GRCm39) |
I136N |
probably damaging |
Het |
Bpifa5 |
G |
A |
2: 154,009,172 (GRCm39) |
C238Y |
probably damaging |
Het |
Camkmt |
T |
C |
17: 85,403,919 (GRCm39) |
V47A |
probably damaging |
Het |
Ccnl2 |
C |
T |
4: 155,905,337 (GRCm39) |
R284W |
probably damaging |
Het |
Chl1 |
G |
T |
6: 103,652,106 (GRCm39) |
V341F |
probably damaging |
Het |
Cst3 |
A |
T |
2: 148,714,797 (GRCm39) |
C93* |
probably null |
Het |
Ctsh |
T |
C |
9: 89,946,291 (GRCm39) |
V119A |
probably damaging |
Het |
Dmap1 |
C |
T |
4: 117,533,593 (GRCm39) |
R225Q |
possibly damaging |
Het |
Ehbp1 |
A |
G |
11: 22,050,460 (GRCm39) |
S479P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,936,507 (GRCm39) |
Y528C |
probably damaging |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
G6pc3 |
A |
G |
11: 102,083,931 (GRCm39) |
M186V |
probably benign |
Het |
Gpr37 |
A |
G |
6: 25,669,317 (GRCm39) |
V509A |
possibly damaging |
Het |
Heatr5b |
G |
T |
17: 79,132,063 (GRCm39) |
H347N |
possibly damaging |
Het |
Idh1 |
A |
G |
1: 65,205,402 (GRCm39) |
S188P |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,910,001 (GRCm39) |
V118A |
probably benign |
Het |
Mthfsd |
C |
T |
8: 121,831,207 (GRCm39) |
R91Q |
probably damaging |
Het |
Otor |
G |
A |
2: 142,921,846 (GRCm39) |
V86I |
probably damaging |
Het |
Pdk2 |
T |
A |
11: 94,922,761 (GRCm39) |
T140S |
probably benign |
Het |
Pnliprp2 |
A |
G |
19: 58,748,929 (GRCm39) |
N78S |
probably benign |
Het |
Rimbp3 |
C |
T |
16: 17,029,552 (GRCm39) |
T992M |
probably damaging |
Het |
Sdad1 |
A |
T |
5: 92,451,632 (GRCm39) |
|
probably null |
Het |
Sidt2 |
A |
G |
9: 45,861,101 (GRCm39) |
S71P |
possibly damaging |
Het |
Slc44a2 |
T |
A |
9: 21,257,231 (GRCm39) |
V390E |
probably damaging |
Het |
Tmem168 |
T |
C |
6: 13,602,674 (GRCm39) |
I231V |
probably benign |
Het |
Vim |
T |
C |
2: 13,583,321 (GRCm39) |
|
probably null |
Het |
|
Other mutations in B3gat3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03244:B3gat3
|
APN |
19 |
8,903,215 (GRCm39) |
missense |
probably damaging |
1.00 |
Bounce
|
UTSW |
19 |
8,902,996 (GRCm39) |
missense |
possibly damaging |
0.90 |
resilient
|
UTSW |
19 |
8,903,102 (GRCm39) |
missense |
probably benign |
0.16 |
spongy
|
UTSW |
19 |
8,903,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:B3gat3
|
UTSW |
19 |
8,902,996 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7140:B3gat3
|
UTSW |
19 |
8,903,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R7257:B3gat3
|
UTSW |
19 |
8,903,102 (GRCm39) |
missense |
probably benign |
0.16 |
|
Posted On |
2012-12-06 |