Incidental Mutation 'IGL02093:B3glct'
| ID |
279499 |
| 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 # |
IGL02093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149601695-149686064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149656150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 194
(R194S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100404]
|
| AlphaFold |
Q8BHT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100404
AA Change: R194S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: R194S
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,160,396 (GRCm39) |
Y41F |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,095,214 (GRCm39) |
Y238H |
probably benign |
Het |
| Ankrd17 |
A |
G |
5: 90,390,822 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,632,119 (GRCm39) |
H49R |
possibly damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,965,360 (GRCm39) |
K34R |
probably damaging |
Het |
| Arsg |
A |
G |
11: 109,416,272 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Arv1 |
C |
A |
8: 125,457,617 (GRCm39) |
L56M |
probably damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,886,717 (GRCm39) |
Y297F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,936,854 (GRCm39) |
E1552G |
probably damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,987 (GRCm39) |
H140R |
probably damaging |
Het |
| Dock5 |
T |
G |
14: 68,076,992 (GRCm39) |
|
probably benign |
Het |
| Egr2 |
G |
A |
10: 67,375,854 (GRCm39) |
G92D |
probably damaging |
Het |
| Evi2a |
G |
A |
11: 79,418,490 (GRCm39) |
S40L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,309,317 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
A |
9: 61,977,821 (GRCm39) |
T21I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,092,755 (GRCm39) |
S44* |
probably null |
Het |
| Heatr5a |
T |
C |
12: 51,962,858 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,351,933 (GRCm39) |
H337Q |
probably benign |
Het |
| Jhy |
G |
T |
9: 40,856,163 (GRCm39) |
|
probably null |
Het |
| Kat5 |
A |
T |
19: 5,653,903 (GRCm39) |
M427K |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,830,380 (GRCm39) |
P1876S |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,777,667 (GRCm39) |
H104Q |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,548,462 (GRCm39) |
Y84H |
probably damaging |
Het |
| Mageb18 |
T |
A |
X: 91,163,872 (GRCm39) |
K123N |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,498 (GRCm39) |
N324K |
probably damaging |
Het |
| Nagk |
T |
C |
6: 83,776,352 (GRCm39) |
F189S |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,610,963 (GRCm39) |
M2218K |
probably benign |
Het |
| Nuak2 |
C |
A |
1: 132,259,850 (GRCm39) |
P543T |
probably benign |
Het |
| Or2ag17 |
C |
T |
7: 106,390,030 (GRCm39) |
M59I |
probably benign |
Het |
| Or5bh3 |
C |
T |
X: 49,098,705 (GRCm39) |
M136I |
possibly damaging |
Het |
| Prl8a9 |
T |
C |
13: 27,743,436 (GRCm39) |
Y123C |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,682,867 (GRCm39) |
F220S |
probably damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,530 (GRCm39) |
D135G |
probably benign |
Het |
| Slc39a10 |
C |
T |
1: 46,874,369 (GRCm39) |
R311Q |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,923,016 (GRCm39) |
|
noncoding transcript |
Het |
| Tfrc |
A |
G |
16: 32,449,012 (GRCm39) |
E717G |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,223 (GRCm39) |
N1141K |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,261,467 (GRCm39) |
S606G |
probably damaging |
Het |
| Usp11 |
A |
G |
X: 20,585,591 (GRCm39) |
D827G |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 64,012,130 (GRCm39) |
M664L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,275 (GRCm39) |
M239K |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,188,704 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
G |
A |
11: 50,791,831 (GRCm39) |
P71S |
probably benign |
Het |
| Zhx1 |
T |
A |
15: 57,916,264 (GRCm39) |
T661S |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation