Incidental Mutation 'IGL02344:B3glct'
ID |
289215 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
B3glct
|
Ensembl Gene |
ENSMUSG00000051950 |
Gene Name |
beta-3-glucosyltransferase |
Synonyms |
B3galtl, LOC381694 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.219)
|
Stock # |
IGL02344
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
149601695-149686064 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 149650313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 139
(R139*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100404]
|
AlphaFold |
Q8BHT6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000100404
AA Change: R139*
|
SMART Domains |
Protein: ENSMUSP00000097972 Gene: ENSMUSG00000051950 AA Change: R139*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Fringe
|
93 |
216 |
7.4e-8 |
PFAM |
Pfam:Fringe
|
253 |
470 |
1.8e-59 |
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 beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI182371 |
T |
C |
2: 34,979,198 (GRCm39) |
N167D |
probably benign |
Het |
AI467606 |
G |
T |
7: 126,691,691 (GRCm39) |
A89S |
probably damaging |
Het |
Atrip |
T |
A |
9: 108,901,692 (GRCm39) |
K122* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,764,668 (GRCm39) |
T549A |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,439,107 (GRCm39) |
N64S |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,622,337 (GRCm39) |
I101V |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,180,191 (GRCm39) |
|
probably benign |
Het |
Ly6g5c |
A |
G |
17: 35,329,723 (GRCm39) |
T68A |
possibly damaging |
Het |
Mthfd1l |
A |
G |
10: 3,998,272 (GRCm39) |
|
probably null |
Het |
Nme8 |
T |
A |
13: 19,858,574 (GRCm39) |
E88V |
possibly damaging |
Het |
Ptpn4 |
A |
T |
1: 119,700,990 (GRCm39) |
D86E |
probably damaging |
Het |
Rnf169 |
A |
G |
7: 99,575,642 (GRCm39) |
S318P |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,856,590 (GRCm39) |
Y493C |
probably null |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tet3 |
A |
G |
6: 83,380,815 (GRCm39) |
V451A |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,258,302 (GRCm39) |
I431L |
probably benign |
Het |
Trp73 |
C |
T |
4: 154,146,500 (GRCm39) |
G420S |
possibly damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,689,405 (GRCm39) |
S517G |
probably damaging |
Het |
|
Other mutations in B3glct |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00954:B3glct
|
APN |
5 |
149,619,902 (GRCm39) |
missense |
probably benign |
|
IGL01066:B3glct
|
APN |
5 |
149,632,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01953:B3glct
|
APN |
5 |
149,669,000 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02093:B3glct
|
APN |
5 |
149,656,150 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03183:B3glct
|
APN |
5 |
149,677,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03277:B3glct
|
APN |
5 |
149,650,299 (GRCm39) |
missense |
probably damaging |
1.00 |
mnemonic
|
UTSW |
5 |
149,668,905 (GRCm39) |
missense |
probably benign |
0.19 |
past
|
UTSW |
5 |
149,677,651 (GRCm39) |
missense |
probably damaging |
0.98 |
R0336:B3glct
|
UTSW |
5 |
149,670,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R0782:B3glct
|
UTSW |
5 |
149,650,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R0881:B3glct
|
UTSW |
5 |
149,663,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:B3glct
|
UTSW |
5 |
149,677,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:B3glct
|
UTSW |
5 |
149,632,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R2164:B3glct
|
UTSW |
5 |
149,677,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R2340:B3glct
|
UTSW |
5 |
149,668,905 (GRCm39) |
missense |
probably benign |
0.19 |
R2395:B3glct
|
UTSW |
5 |
149,677,651 (GRCm39) |
missense |
probably damaging |
0.98 |
R4612:B3glct
|
UTSW |
5 |
149,663,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:B3glct
|
UTSW |
5 |
149,648,867 (GRCm39) |
splice site |
probably null |
|
R5303:B3glct
|
UTSW |
5 |
149,677,488 (GRCm39) |
intron |
probably benign |
|
R5405:B3glct
|
UTSW |
5 |
149,632,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R5444:B3glct
|
UTSW |
5 |
149,669,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:B3glct
|
UTSW |
5 |
149,653,399 (GRCm39) |
nonsense |
probably null |
|
R5683:B3glct
|
UTSW |
5 |
149,619,902 (GRCm39) |
missense |
probably benign |
|
R6240:B3glct
|
UTSW |
5 |
149,650,253 (GRCm39) |
missense |
probably benign |
0.01 |
R6409:B3glct
|
UTSW |
5 |
149,658,916 (GRCm39) |
missense |
probably benign |
|
R6904:B3glct
|
UTSW |
5 |
149,663,069 (GRCm39) |
splice site |
probably null |
|
R6908:B3glct
|
UTSW |
5 |
149,619,941 (GRCm39) |
critical splice donor site |
probably null |
|
R7265:B3glct
|
UTSW |
5 |
149,632,785 (GRCm39) |
missense |
probably benign |
0.00 |
R7395:B3glct
|
UTSW |
5 |
149,649,069 (GRCm39) |
splice site |
probably null |
|
R7543:B3glct
|
UTSW |
5 |
149,677,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R8098:B3glct
|
UTSW |
5 |
149,673,965 (GRCm39) |
nonsense |
probably null |
|
R8356:B3glct
|
UTSW |
5 |
149,650,254 (GRCm39) |
missense |
probably damaging |
0.99 |
R8456:B3glct
|
UTSW |
5 |
149,650,254 (GRCm39) |
missense |
probably damaging |
0.99 |
R9498:B3glct
|
UTSW |
5 |
149,673,894 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9797:B3glct
|
UTSW |
5 |
149,650,304 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2015-04-16 |