Incidental Mutation 'R5144:B4galt5'
| ID |
470560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galt5
|
| Ensembl Gene |
ENSMUSG00000017929 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5 |
| Synonyms |
9430078I07Rik |
| MMRRC Submission |
042728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5144 (G1)
|
| Quality Score |
74 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
167140364-167191103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 167148516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 201
(E201K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109221]
|
| AlphaFold |
Q9JMK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109221
AA Change: E201K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: E201K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
114 |
249 |
3.1e-57 |
PFAM |
|
Pfam:Glyco_transf_7C
|
253 |
332 |
1.6e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149698
|
| SMART Domains |
Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1j8wb_
|
15 |
86 |
9e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155623
|
| Meta Mutation Damage Score |
0.8093 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| 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 function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Heterozygous mutant mice exhibit increased anxiety-like response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,604 (GRCm39) |
|
probably benign |
Het |
| Arpc2 |
A |
T |
1: 74,287,367 (GRCm39) |
K62N |
probably damaging |
Het |
| Bub1b |
C |
T |
2: 118,445,980 (GRCm39) |
T334M |
possibly damaging |
Het |
| Ccdc71 |
T |
C |
9: 108,341,051 (GRCm39) |
V288A |
probably benign |
Het |
| Cep350 |
G |
A |
1: 155,786,896 (GRCm39) |
R1444W |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,623 (GRCm39) |
L605P |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,482 (GRCm39) |
I1813F |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,278,434 (GRCm39) |
I821V |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,847 (GRCm39) |
D43G |
probably damaging |
Het |
| Depdc7 |
T |
C |
2: 104,560,598 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,137,666 (GRCm39) |
V216A |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,020,325 (GRCm39) |
N598K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,162,238 (GRCm39) |
T195A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,058,895 (GRCm39) |
V1883A |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,935 (GRCm39) |
D150V |
probably benign |
Het |
| Kcnb1 |
T |
A |
2: 166,947,864 (GRCm39) |
Y328F |
probably damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,337,059 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
G |
11: 62,240,290 (GRCm39) |
S894R |
probably damaging |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,254,650 (GRCm39) |
T194A |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,156 (GRCm39) |
T33S |
probably benign |
Het |
| Or8b53 |
C |
T |
9: 38,667,689 (GRCm39) |
S235L |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,703 (GRCm39) |
R102S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,950,021 (GRCm39) |
N1332S |
probably benign |
Het |
| Plppr1 |
T |
A |
4: 49,319,800 (GRCm39) |
V142E |
possibly damaging |
Het |
| Prdm6 |
C |
A |
18: 53,598,110 (GRCm39) |
|
probably benign |
Het |
| Prm2 |
T |
A |
16: 10,609,732 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,435,883 (GRCm39) |
S155P |
possibly damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,793 (GRCm39) |
Y481H |
probably benign |
Het |
| Rgs2 |
G |
A |
1: 143,877,437 (GRCm39) |
T206M |
probably benign |
Het |
| Slc2a8 |
C |
T |
2: 32,871,785 (GRCm39) |
R56H |
probably damaging |
Het |
| Spmip11 |
C |
A |
15: 98,483,148 (GRCm39) |
|
probably null |
Het |
| Stk35 |
T |
A |
2: 129,652,855 (GRCm39) |
M452K |
probably damaging |
Het |
| Tcf3 |
G |
A |
10: 80,251,071 (GRCm39) |
H454Y |
probably damaging |
Het |
| Tgm3 |
C |
T |
2: 129,890,202 (GRCm39) |
S655F |
possibly damaging |
Het |
| Tssc4 |
T |
G |
7: 142,623,770 (GRCm39) |
L26R |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,572,695 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
C |
G |
17: 21,534,688 (GRCm39) |
A137G |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps8 |
T |
C |
16: 21,378,103 (GRCm39) |
L1038P |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,462,660 (GRCm39) |
A290V |
probably damaging |
Het |
| Zdhhc25 |
T |
G |
15: 88,485,259 (GRCm39) |
L198R |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,302,998 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in B4galt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01997:B4galt5
|
APN |
2 |
167,143,261 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02573:B4galt5
|
APN |
2 |
167,146,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03305:B4galt5
|
APN |
2 |
167,147,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0115:B4galt5
|
UTSW |
2 |
167,151,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:B4galt5
|
UTSW |
2 |
167,151,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:B4galt5
|
UTSW |
2 |
167,146,923 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2507:B4galt5
|
UTSW |
2 |
167,148,558 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2508:B4galt5
|
UTSW |
2 |
167,148,558 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5717:B4galt5
|
UTSW |
2 |
167,148,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6315:B4galt5
|
UTSW |
2 |
167,147,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:B4galt5
|
UTSW |
2 |
167,148,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:B4galt5
|
UTSW |
2 |
167,143,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:B4galt5
|
UTSW |
2 |
167,146,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7868:B4galt5
|
UTSW |
2 |
167,143,340 (GRCm39) |
nonsense |
probably null |
|
|
R7995:B4galt5
|
UTSW |
2 |
167,143,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:B4galt5
|
UTSW |
2 |
167,143,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:B4galt5
|
UTSW |
2 |
167,144,023 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8322:B4galt5
|
UTSW |
2 |
167,190,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8371:B4galt5
|
UTSW |
2 |
167,151,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:B4galt5
|
UTSW |
2 |
167,143,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATACTCAGGAGAGGCAC -3'
(R):5'- TGCAGAGAACTTGCTGGTAAG -3'
Sequencing Primer
(F):5'- CACAGGAATGTGCTGATTGTCAACC -3'
(R):5'- CTGGTAAGCTGGAGCCAG -3'
|
| Posted On |
2017-03-14 |
Incidental Mutation