Incidental Mutation 'IGL01455:B3gnt2'
| ID |
84747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B3gnt2
|
| Ensembl Gene |
ENSMUSG00000051650 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 |
| Synonyms |
B3gnt1, B3Galt6 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
IGL01455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
22784739-22810336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22787042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 49
(W49R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055549]
[ENSMUST00000062844]
[ENSMUST00000160826]
[ENSMUST00000173660]
|
| AlphaFold |
Q9Z222 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055549
AA Change: W49R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: W49R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Galactosyl_T
|
156 |
351 |
2.9e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062844
AA Change: W49R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: W49R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Galactosyl_T
|
156 |
351 |
2.9e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160826
|
| SMART Domains |
Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
1 |
99 |
1.3e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173660
AA Change: W49R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189990
|
| Coding Region Coverage |
|
| 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. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(3) Gene trapped(2)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
| Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
| Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
| Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,441,451 (GRCm39) |
I106V |
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,481,922 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
| Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,261,511 (GRCm39) |
E411G |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
| Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
| Nme4 |
A |
T |
17: 26,311,036 (GRCm39) |
D176E |
probably benign |
Het |
| Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
| Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
| Tmcc3 |
A |
T |
10: 94,422,617 (GRCm39) |
I356F |
probably damaging |
Het |
| Tmem262 |
G |
T |
19: 6,130,189 (GRCm39) |
R6L |
probably damaging |
Het |
| Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
probably damaging |
Het |
|
| Other mutations in B3gnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:B3gnt2
|
APN |
11 |
22,786,151 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01061:B3gnt2
|
APN |
11 |
22,786,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01123:B3gnt2
|
APN |
11 |
22,786,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0094:B3gnt2
|
UTSW |
11 |
22,786,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0309:B3gnt2
|
UTSW |
11 |
22,786,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0747:B3gnt2
|
UTSW |
11 |
22,786,316 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1163:B3gnt2
|
UTSW |
11 |
22,786,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2016:B3gnt2
|
UTSW |
11 |
22,786,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:B3gnt2
|
UTSW |
11 |
22,786,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:B3gnt2
|
UTSW |
11 |
22,786,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:B3gnt2
|
UTSW |
11 |
22,786,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3768:B3gnt2
|
UTSW |
11 |
22,786,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4604:B3gnt2
|
UTSW |
11 |
22,786,426 (GRCm39) |
frame shift |
probably null |
|
|
R4680:B3gnt2
|
UTSW |
11 |
22,787,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:B3gnt2
|
UTSW |
11 |
22,787,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6589:B3gnt2
|
UTSW |
11 |
22,787,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:B3gnt2
|
UTSW |
11 |
22,786,888 (GRCm39) |
nonsense |
probably null |
|
|
R7391:B3gnt2
|
UTSW |
11 |
22,786,482 (GRCm39) |
nonsense |
probably null |
|
|
R7970:B3gnt2
|
UTSW |
11 |
22,786,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:B3gnt2
|
UTSW |
11 |
22,786,373 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8801:B3gnt2
|
UTSW |
11 |
22,787,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-11 |
Incidental Mutation