Incidental Mutation 'IGL00954:B3glct'
| ID |
27475 |
| 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: 0.232)
|
| Stock # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149601695-149686064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 149619902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 19
(M19K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100404]
|
| AlphaFold |
Q8BHT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100404
AA Change: M19K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: M19K
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
| Other mutations in B3glct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02344:B3glct
|
APN |
5 |
149,650,313 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-04-17 |
Incidental Mutation