Incidental Mutation 'R5042:B3gnt3'
| ID |
393259 |
| 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 |
042632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5042 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72143400-72154433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72145532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 279
(T279A)
|
| 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: T279A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
AA Change: T279A
| 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
|
| Meta Mutation Damage Score |
0.4683 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
A |
7: 29,273,927 (GRCm39) |
|
noncoding transcript |
Het |
| 4933413J09Rik |
C |
A |
14: 26,097,436 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,286 (GRCm39) |
I413V |
possibly damaging |
Het |
| Alpk2 |
C |
T |
18: 65,483,579 (GRCm39) |
W143* |
probably null |
Het |
| Anpep |
G |
T |
7: 79,489,217 (GRCm39) |
N318K |
probably benign |
Het |
| Art5 |
A |
T |
7: 101,748,672 (GRCm39) |
L10H |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,587,521 (GRCm39) |
H1981P |
probably benign |
Het |
| Bmp10 |
G |
T |
6: 87,411,039 (GRCm39) |
E277D |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,916,255 (GRCm39) |
T191A |
probably damaging |
Het |
| Dars2 |
T |
A |
1: 160,872,664 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Fndc7 |
A |
T |
3: 108,770,102 (GRCm39) |
V608D |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gbp2b |
A |
G |
3: 142,317,224 (GRCm39) |
K527E |
probably benign |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,500 (GRCm39) |
S150C |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,949,419 (GRCm39) |
M1K |
probably null |
Het |
| Il17rd |
T |
A |
14: 26,817,998 (GRCm39) |
V229E |
probably damaging |
Het |
| Iqch |
A |
G |
9: 63,403,516 (GRCm39) |
M634T |
possibly damaging |
Het |
| Magel2 |
C |
T |
7: 62,029,354 (GRCm39) |
R753W |
unknown |
Het |
| Med26 |
A |
G |
8: 73,250,919 (GRCm39) |
V60A |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Nat1 |
T |
G |
8: 67,944,228 (GRCm39) |
D201E |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,605,129 (GRCm39) |
S981R |
probably benign |
Het |
| Nbn |
C |
A |
4: 15,981,446 (GRCm39) |
L513M |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,834,757 (GRCm39) |
V701A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,270,703 (GRCm39) |
D911G |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,647,002 (GRCm39) |
I712F |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,909 (GRCm39) |
R235* |
probably null |
Het |
| Or10a48 |
A |
G |
7: 108,424,678 (GRCm39) |
I176T |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,649 (GRCm39) |
Y247N |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,630 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,788,861 (GRCm39) |
D873V |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,991,765 (GRCm39) |
V839A |
probably damaging |
Het |
| Ppm1j |
A |
T |
3: 104,690,036 (GRCm39) |
Q148L |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,097,161 (GRCm39) |
N888K |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,066 (GRCm39) |
D12G |
probably benign |
Het |
| Snph |
T |
A |
2: 151,442,977 (GRCm39) |
I35F |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,465 (GRCm39) |
D1442V |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,936,767 (GRCm39) |
T113A |
probably benign |
Het |
| St13 |
A |
T |
15: 81,249,693 (GRCm39) |
N349K |
probably damaging |
Het |
| Ttll6 |
C |
T |
11: 96,045,430 (GRCm39) |
S549F |
possibly damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,252,097 (GRCm39) |
S473T |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,422 (GRCm39) |
V112A |
possibly damaging |
Het |
| Vmn2r57 |
G |
A |
7: 41,078,086 (GRCm39) |
S124L |
probably benign |
Het |
| Wasf2 |
A |
T |
4: 132,903,875 (GRCm39) |
R28W |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,117 (GRCm39) |
N417K |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,576,836 (GRCm39) |
D1648V |
probably damaging |
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 |
|
R2253: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 |
|
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'- TTCAGCGCATCCCACATCAG -3'
(R):5'- CGGACAACATGGTCACCTAC -3'
Sequencing Primer
(F):5'- CATCAGCAGCATCTCGAAGGG -3'
(R):5'- GGTCACCTACCTGCAGGAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation