Incidental Mutation 'R8196:B3galt1'
| ID |
635432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3galt1
|
| Ensembl Gene |
ENSMUSG00000034780 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 |
| Synonyms |
6330417G03Rik |
| MMRRC Submission |
067619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
67396215-67953033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67948530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 82
(I82V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042456]
[ENSMUST00000112346]
[ENSMUST00000180887]
|
| AlphaFold |
O54904 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042456
AA Change: I82V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: I82V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
92 |
283 |
5.4e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112346
AA Change: I82V
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: I82V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
92 |
283 |
6.4e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180887
|
| SMART Domains |
Protein: ENSMUSP00000137947
Gene: ENSMUSG00000034780
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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 is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
T |
A |
19: 21,656,024 (GRCm39) |
V102D |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,087 (GRCm39) |
D301E |
probably benign |
Het |
| Adnp |
A |
C |
2: 168,025,092 (GRCm39) |
D734E |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,723,532 (GRCm39) |
T932S |
probably damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,760,277 (GRCm39) |
D709E |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,707,226 (GRCm39) |
D307G |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,118,285 (GRCm39) |
D1111G |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,059,468 (GRCm39) |
D2089G |
probably benign |
Het |
| Dach1 |
T |
A |
14: 98,256,370 (GRCm39) |
H296L |
probably damaging |
Het |
| Dennd4b |
T |
G |
3: 90,178,904 (GRCm39) |
L556R |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,405,151 (GRCm39) |
S326T |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,306 (GRCm39) |
H286Q |
probably damaging |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fn3k |
T |
A |
11: 121,341,222 (GRCm39) |
F292L |
probably damaging |
Het |
| Gm1123 |
G |
A |
9: 98,905,309 (GRCm39) |
A67V |
probably benign |
Het |
| Hey2 |
C |
T |
10: 30,710,273 (GRCm39) |
C160Y |
probably benign |
Het |
| Jph2 |
T |
A |
2: 163,180,621 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,343,166 (GRCm39) |
S1084P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,276,497 (GRCm39) |
D6084G |
probably damaging |
Het |
| Mdfic |
G |
T |
6: 15,740,989 (GRCm39) |
A115S |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,297,237 (GRCm39) |
E2599G |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,509,689 (GRCm39) |
S131P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,556,630 (GRCm39) |
T3221K |
unknown |
Het |
| Or1q1 |
T |
A |
2: 36,886,873 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,904 (GRCm39) |
S245G |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdgfc |
A |
G |
3: 80,944,811 (GRCm39) |
E23G |
possibly damaging |
Het |
| Pfkp |
T |
C |
13: 6,655,698 (GRCm39) |
T312A |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,683,768 (GRCm39) |
E200G |
probably damaging |
Het |
| Rai1 |
C |
T |
11: 60,076,796 (GRCm39) |
H287Y |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,445,275 (GRCm39) |
V319I |
probably benign |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,961,490 (GRCm39) |
D401V |
possibly damaging |
Het |
| Sh3bp5 |
A |
G |
14: 31,139,399 (GRCm39) |
V58A |
probably benign |
Het |
| Shpk |
A |
T |
11: 73,094,775 (GRCm39) |
I64F |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,189,646 (GRCm39) |
Y171H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,075,661 (GRCm39) |
T183A |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,328,862 (GRCm39) |
L549F |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,051,329 (GRCm39) |
M301K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,311 (GRCm39) |
V532I |
probably benign |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,938 (GRCm39) |
K574I |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,782,156 (GRCm39) |
N668S |
possibly damaging |
Het |
|
| Other mutations in B3galt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:B3galt1
|
APN |
2 |
67,948,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00834:B3galt1
|
APN |
2 |
67,949,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02555:B3galt1
|
APN |
2 |
67,948,905 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02678:B3galt1
|
APN |
2 |
67,949,254 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02904:B3galt1
|
APN |
2 |
67,949,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02931:B3galt1
|
APN |
2 |
67,948,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:B3galt1
|
APN |
2 |
67,948,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:B3galt1
|
UTSW |
2 |
67,948,932 (GRCm39) |
missense |
probably benign |
|
|
R0735:B3galt1
|
UTSW |
2 |
67,948,923 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4946:B3galt1
|
UTSW |
2 |
67,948,913 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5327:B3galt1
|
UTSW |
2 |
67,949,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5638:B3galt1
|
UTSW |
2 |
67,949,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6364:B3galt1
|
UTSW |
2 |
67,949,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:B3galt1
|
UTSW |
2 |
67,949,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7578:B3galt1
|
UTSW |
2 |
67,948,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:B3galt1
|
UTSW |
2 |
67,948,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:B3galt1
|
UTSW |
2 |
67,948,320 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8846:B3galt1
|
UTSW |
2 |
67,948,717 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8924:B3galt1
|
UTSW |
2 |
67,949,059 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9062:B3galt1
|
UTSW |
2 |
67,948,890 (GRCm39) |
missense |
|
|
|
R9104:B3galt1
|
UTSW |
2 |
67,948,406 (GRCm39) |
missense |
probably benign |
|
|
Z1177:B3galt1
|
UTSW |
2 |
67,948,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTCAAAGGTCTCCTGC -3'
(R):5'- ATGGAAGATCTGGCTCTCTTG -3'
Sequencing Primer
(F):5'- CTCTGGTACTTGAGCATAACCAG -3'
(R):5'- GAAGATCTGGCTCTCTTGCTCCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation