Incidental Mutation 'R2253:B3gnt3'
| ID |
241817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gnt3
|
| Ensembl Gene |
ENSMUSG00000031803 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 |
| Synonyms |
2210008L19Rik |
| MMRRC Submission |
040253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2253 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72143400-72154433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72145462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 302
(M302K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034260]
[ENSMUST00000034261]
[ENSMUST00000051995]
[ENSMUST00000110012]
[ENSMUST00000110013]
|
| AlphaFold |
Q5JCS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034260
AA Change: M302K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
AA Change: M302K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
121 |
314 |
5.9e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034261
|
| SMART Domains |
Protein: ENSMUSP00000034261
Gene: ENSMUSG00000079019
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
IlGF
|
26 |
120 |
2.46e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051995
|
| SMART Domains |
Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
20 |
254 |
2.2e-42 |
SMART |
|
SH2
|
370 |
460 |
5.57e-8 |
SMART |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
STYKc
|
517 |
773 |
3.58e-12 |
SMART |
|
TyrKc
|
818 |
1091 |
4.59e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110012
|
| SMART Domains |
Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
20 |
254 |
2.2e-42 |
SMART |
|
SH2
|
370 |
460 |
5.57e-8 |
SMART |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
STYKc
|
517 |
773 |
3.58e-12 |
SMART |
|
TyrKc
|
818 |
1091 |
4.59e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110013
|
| SMART Domains |
Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
20 |
254 |
2.2e-42 |
SMART |
|
SH2
|
370 |
460 |
5.57e-8 |
SMART |
|
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
|
STYKc
|
517 |
773 |
3.58e-12 |
SMART |
|
TyrKc
|
818 |
1091 |
4.59e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212491
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display increases in thermal pain sensation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acss3 |
G |
A |
10: 106,840,609 (GRCm39) |
A384V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,878,409 (GRCm39) |
E732K |
possibly damaging |
Het |
| Atp12a |
A |
G |
14: 56,613,715 (GRCm39) |
T496A |
probably benign |
Het |
| Bptf |
G |
T |
11: 107,002,148 (GRCm39) |
D321E |
probably damaging |
Het |
| C1ql3 |
C |
T |
2: 13,015,130 (GRCm39) |
V177I |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,982,042 (GRCm39) |
Y607* |
probably null |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cd248 |
A |
G |
19: 5,118,154 (GRCm39) |
M1V |
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,410,891 (GRCm39) |
T405A |
probably benign |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,463 (GRCm39) |
I328N |
probably damaging |
Het |
| Krt9 |
A |
T |
11: 100,081,685 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lgals12 |
T |
A |
19: 7,584,130 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
| Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,821 (GRCm39) |
T57A |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,549 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,101,622 (GRCm39) |
K453E |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,278,981 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
| Rnf181 |
G |
T |
6: 72,338,467 (GRCm39) |
H14N |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,257,418 (GRCm39) |
V240A |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,224,447 (GRCm39) |
Y315H |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,392 (GRCm39) |
S23P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,442,143 (GRCm39) |
N721S |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,100,772 (GRCm39) |
E54G |
probably benign |
Het |
| Tesl2 |
G |
A |
X: 23,824,950 (GRCm39) |
A75V |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,853,563 (GRCm39) |
H131R |
probably benign |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,139 (GRCm39) |
C120Y |
probably damaging |
Het |
| Zdhhc18 |
A |
T |
4: 133,360,388 (GRCm39) |
|
probably null |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in B3gnt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:B3gnt3
|
APN |
8 |
72,145,648 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0046:B3gnt3
|
UTSW |
8 |
72,145,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:B3gnt3
|
UTSW |
8 |
72,145,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:B3gnt3
|
UTSW |
8 |
72,146,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1104:B3gnt3
|
UTSW |
8 |
72,146,481 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2125:B3gnt3
|
UTSW |
8 |
72,146,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:B3gnt3
|
UTSW |
8 |
72,145,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:B3gnt3
|
UTSW |
8 |
72,145,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:B3gnt3
|
UTSW |
8 |
72,145,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:B3gnt3
|
UTSW |
8 |
72,146,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4854:B3gnt3
|
UTSW |
8 |
72,145,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:B3gnt3
|
UTSW |
8 |
72,145,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5042:B3gnt3
|
UTSW |
8 |
72,145,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:B3gnt3
|
UTSW |
8 |
72,145,582 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6249:B3gnt3
|
UTSW |
8 |
72,145,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:B3gnt3
|
UTSW |
8 |
72,145,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:B3gnt3
|
UTSW |
8 |
72,145,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:B3gnt3
|
UTSW |
8 |
72,146,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8734:B3gnt3
|
UTSW |
8 |
72,146,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9012:B3gnt3
|
UTSW |
8 |
72,145,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:B3gnt3
|
UTSW |
8 |
72,146,409 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGGGGATGTCAACTCC -3'
(R):5'- CGGACAACATGGTCACCTAC -3'
Sequencing Primer
(F):5'- AAACCTCTCAGTAGGCGGG -3'
(R):5'- ACCAACACCTCTTCGTGGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation