Incidental Mutation 'R1259:B4galt6'
ID |
151565 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
B4galt6
|
Ensembl Gene |
ENSMUSG00000056124 |
Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 |
Synonyms |
|
MMRRC Submission |
039326-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R1259 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
20817656-20879461 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 20839559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 125
(E125A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070080]
|
AlphaFold |
Q9WVK5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070080
AA Change: E125A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000066515 Gene: ENSMUSG00000056124 AA Change: E125A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_7N
|
108 |
243 |
3.3e-56 |
PFAM |
Pfam:Glyco_transf_7C
|
247 |
325 |
2e-28 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype with reduced lactosylceramide synthase in MEFs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,021,684 (GRCm39) |
D602V |
probably benign |
Het |
Adam26a |
T |
C |
8: 44,021,750 (GRCm39) |
D580G |
possibly damaging |
Het |
Dnm1l |
A |
G |
16: 16,141,870 (GRCm39) |
I292T |
possibly damaging |
Het |
Elp3 |
A |
T |
14: 65,785,388 (GRCm39) |
I471K |
probably damaging |
Het |
Fbxw13 |
A |
T |
9: 109,014,439 (GRCm39) |
V83E |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,111 (GRCm39) |
|
noncoding transcript |
Het |
Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
Lpcat2b |
C |
T |
5: 107,581,763 (GRCm39) |
A364V |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Lypd9 |
A |
G |
11: 58,338,296 (GRCm39) |
I32T |
probably benign |
Het |
Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,226,464 (GRCm39) |
|
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,169 (GRCm39) |
L197Q |
probably damaging |
Het |
Or8k16 |
T |
A |
2: 85,519,875 (GRCm39) |
I34N |
probably damaging |
Het |
Pbrm1 |
T |
C |
14: 30,796,771 (GRCm39) |
F871L |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,097,324 (GRCm39) |
D493V |
probably damaging |
Het |
Pik3cd |
G |
A |
4: 149,735,105 (GRCm39) |
R1046* |
probably null |
Het |
Pom121l2 |
G |
A |
13: 22,166,297 (GRCm39) |
W189* |
probably null |
Het |
Prex2 |
C |
A |
1: 11,359,494 (GRCm39) |
N1567K |
probably damaging |
Het |
Prl |
A |
G |
13: 27,245,472 (GRCm39) |
|
probably null |
Het |
Ptpro |
T |
C |
6: 137,369,739 (GRCm39) |
V517A |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,239,763 (GRCm39) |
I267F |
probably damaging |
Het |
Wasf3 |
T |
C |
5: 146,388,786 (GRCm39) |
V80A |
probably damaging |
Het |
|
Other mutations in B4galt6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:B4galt6
|
APN |
18 |
20,822,070 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02260:B4galt6
|
APN |
18 |
20,833,804 (GRCm39) |
missense |
probably benign |
0.00 |
H8786:B4galt6
|
UTSW |
18 |
20,822,001 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4515001:B4galt6
|
UTSW |
18 |
20,821,524 (GRCm39) |
missense |
probably benign |
0.01 |
R0578:B4galt6
|
UTSW |
18 |
20,861,013 (GRCm39) |
splice site |
probably benign |
|
R1471:B4galt6
|
UTSW |
18 |
20,878,410 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1487:B4galt6
|
UTSW |
18 |
20,839,571 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1689:B4galt6
|
UTSW |
18 |
20,839,553 (GRCm39) |
missense |
probably benign |
0.05 |
R4541:B4galt6
|
UTSW |
18 |
20,878,496 (GRCm39) |
missense |
probably benign |
0.04 |
R4845:B4galt6
|
UTSW |
18 |
20,821,517 (GRCm39) |
missense |
probably benign |
0.20 |
R4968:B4galt6
|
UTSW |
18 |
20,861,026 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5379:B4galt6
|
UTSW |
18 |
20,822,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:B4galt6
|
UTSW |
18 |
20,878,409 (GRCm39) |
critical splice donor site |
probably null |
|
R6755:B4galt6
|
UTSW |
18 |
20,822,386 (GRCm39) |
missense |
probably benign |
0.01 |
R7296:B4galt6
|
UTSW |
18 |
20,861,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R8726:B4galt6
|
UTSW |
18 |
20,821,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8884:B4galt6
|
UTSW |
18 |
20,822,072 (GRCm39) |
missense |
probably benign |
|
R8929:B4galt6
|
UTSW |
18 |
20,821,422 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9282:B4galt6
|
UTSW |
18 |
20,825,509 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGGACCCAACTGAAAACAAGG -3'
(R):5'- AGGAGTAGCCCATACTGTCCATCAC -3'
Sequencing Primer
(F):5'- CTCTCAGTTCCAGAAACTGGTGG -3'
(R):5'- ATCACTCTGTGACTGATGCTG -3'
|
Posted On |
2014-01-29 |