Incidental Mutation 'R3817:B3galt2'
| ID |
274730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3galt2
|
| Ensembl Gene |
ENSMUSG00000033849 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 |
| Synonyms |
|
| MMRRC Submission |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
143516435-143525675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 143522811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 316
(G316C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018337]
[ENSMUST00000038252]
|
| AlphaFold |
O54905 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018337
|
| SMART Domains |
Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC73_N
|
1 |
297 |
3.4e-135 |
PFAM |
|
Pfam:CDC73_C
|
356 |
521 |
2.6e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038252
AA Change: G316C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046118
Gene: ENSMUSG00000033849
AA Change: G316C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
165 |
359 |
3.8e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189597
|
| Meta Mutation Damage Score |
0.8993 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,967,366 (GRCm39) |
N14T |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,122 (GRCm39) |
V422A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp672 |
G |
T |
11: 58,207,462 (GRCm39) |
H286Q |
possibly damaging |
Het |
|
| Other mutations in B3galt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:B3galt2
|
APN |
1 |
143,522,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:B3galt2
|
APN |
1 |
143,522,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01406:B3galt2
|
APN |
1 |
143,522,844 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01736:B3galt2
|
APN |
1 |
143,522,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02427:B3galt2
|
APN |
1 |
143,522,254 (GRCm39) |
missense |
probably benign |
|
|
IGL03289:B3galt2
|
APN |
1 |
143,523,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:B3galt2
|
UTSW |
1 |
143,523,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0620:B3galt2
|
UTSW |
1 |
143,521,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0665:B3galt2
|
UTSW |
1 |
143,522,191 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1765:B3galt2
|
UTSW |
1 |
143,522,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2325:B3galt2
|
UTSW |
1 |
143,522,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5248:B3galt2
|
UTSW |
1 |
143,522,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5863:B3galt2
|
UTSW |
1 |
143,522,104 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6339:B3galt2
|
UTSW |
1 |
143,522,640 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6419:B3galt2
|
UTSW |
1 |
143,522,839 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7529:B3galt2
|
UTSW |
1 |
143,522,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7577:B3galt2
|
UTSW |
1 |
143,523,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:B3galt2
|
UTSW |
1 |
143,521,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:B3galt2
|
UTSW |
1 |
143,522,364 (GRCm39) |
nonsense |
probably null |
|
|
R9508:B3galt2
|
UTSW |
1 |
143,522,280 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9593:B3galt2
|
UTSW |
1 |
143,522,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9743:B3galt2
|
UTSW |
1 |
143,522,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAACATACTGTCCACATACTC -3'
(R):5'- CAGCTTGAATAAGAAACTCGCC -3'
Sequencing Primer
(F):5'- CCCTATGTTATGAAAACGGACAGTG -3'
(R):5'- TCGCCAGTGATTGAACACG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation