Incidental Mutation 'R0782:B3glct'
| ID |
76681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3glct
|
| Ensembl Gene |
ENSMUSG00000051950 |
| Gene Name |
beta-3-glucosyltransferase |
| Synonyms |
B3galtl, LOC381694 |
| MMRRC Submission |
038962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R0782 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149601695-149686064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149650275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 126
(T126M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100404]
|
| AlphaFold |
Q8BHT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100404
AA Change: T126M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: T126M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
| Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
| Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,982,269 (GRCm39) |
H90R |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
| Ilkap |
C |
T |
1: 91,306,272 (GRCm39) |
R103H |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,213 (GRCm39) |
R164C |
probably damaging |
Het |
| Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
| Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,177 (GRCm39) |
I308V |
probably benign |
Het |
| Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
| Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
| Serping1 |
G |
A |
2: 84,597,790 (GRCm39) |
P364S |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
| Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
| Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
| Vamp5 |
T |
C |
6: 72,346,453 (GRCm39) |
S48G |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGGTAGTCCCTGGCTTTCTTC -3'
(R):5'- TGTAAACGGCAGAGACTTTCACCAC -3'
Sequencing Primer
(F):5'- CTCAGTCGAGCTGAGATTCATAG -3'
(R):5'- GAGACTTTCACCACAACACTTTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation