Incidental Mutation 'R6904:B3glct'
| ID |
538676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3glct
|
| Ensembl Gene |
ENSMUSG00000051950 |
| Gene Name |
beta-3-glucosyltransferase |
| Synonyms |
B3galtl, LOC381694 |
| MMRRC Submission |
045033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R6904 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
149601695-149686064 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 149663069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100404]
|
| AlphaFold |
Q8BHT6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100404
|
| SMART Domains |
Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,516 (GRCm39) |
Y406* |
probably null |
Het |
| Acadvl |
T |
C |
11: 69,905,159 (GRCm39) |
D109G |
probably benign |
Het |
| Adam24 |
G |
A |
8: 41,134,542 (GRCm39) |
G670E |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,136 (GRCm39) |
M378V |
probably benign |
Het |
| Ankrd33 |
G |
A |
15: 101,014,993 (GRCm39) |
|
probably null |
Het |
| Apol7b |
G |
A |
15: 77,307,625 (GRCm39) |
T290I |
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,180 (GRCm39) |
W54R |
probably damaging |
Het |
| Bmp7 |
A |
G |
2: 172,714,706 (GRCm39) |
S368P |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,312,154 (GRCm39) |
V636A |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,259,002 (GRCm39) |
R1237H |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,980 (GRCm39) |
D697G |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,194 (GRCm39) |
T132A |
probably benign |
Het |
| Ces1b |
T |
A |
8: 93,787,038 (GRCm39) |
Y447F |
probably damaging |
Het |
| Cfhr4 |
T |
G |
1: 139,659,391 (GRCm39) |
N642H |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,674,544 (GRCm39) |
T1015S |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,838,741 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,684,828 (GRCm39) |
N262K |
possibly damaging |
Het |
| Jmjd8 |
G |
A |
17: 26,048,026 (GRCm39) |
R41H |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,178,259 (GRCm39) |
T344S |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,410,647 (GRCm39) |
D175G |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,227 (GRCm39) |
Y81C |
probably damaging |
Het |
| Mpdu1 |
T |
A |
11: 69,549,411 (GRCm39) |
T95S |
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,135 (GRCm39) |
I31N |
probably damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,700 (GRCm39) |
Y195* |
probably null |
Het |
| Or4c119 |
G |
A |
2: 88,987,157 (GRCm39) |
R121C |
possibly damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,652 (GRCm39) |
I45V |
probably benign |
Het |
| Or51v15-ps1 |
A |
T |
7: 103,278,790 (GRCm39) |
F126I |
probably benign |
Het |
| Or52z12 |
T |
A |
7: 103,233,727 (GRCm39) |
I166N |
possibly damaging |
Het |
| Or5w17 |
A |
G |
2: 87,584,223 (GRCm39) |
V38A |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,431 (GRCm39) |
I259F |
possibly damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,970 (GRCm39) |
D321E |
probably benign |
Het |
| Pi4kb |
G |
T |
3: 94,900,461 (GRCm39) |
R392L |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,291 (GRCm39) |
C180Y |
possibly damaging |
Het |
| Prss41 |
T |
C |
17: 24,056,622 (GRCm39) |
K151R |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,477 (GRCm39) |
V658D |
probably benign |
Het |
| Snx4 |
A |
G |
16: 33,115,108 (GRCm39) |
I430V |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,726,056 (GRCm39) |
H407Y |
possibly damaging |
Het |
| Tcf25 |
G |
A |
8: 124,127,437 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
T |
14: 76,743,923 (GRCm39) |
K24* |
probably null |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,323 (GRCm39) |
T319A |
probably benign |
Het |
| Zbtb1 |
C |
T |
12: 76,432,985 (GRCm39) |
R324* |
probably null |
Het |
| Zc3h7a |
A |
G |
16: 10,963,535 (GRCm39) |
Y729H |
probably damaging |
Het |
| Zfp329 |
C |
A |
7: 12,540,457 (GRCm39) |
|
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,384 (GRCm39) |
S441T |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTAAAACTACCATGGAAATGG -3'
(R):5'- AGAGCTATGACCACTCACGC -3'
Sequencing Primer
(F):5'- CATGGAAATGGATATCTATAGCATCG -3'
(R):5'- ATTGCCTCTGCTAAGTGATCTCAAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation