Incidental Mutation 'IGL01356:B4galt4'
| ID |
75543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
B4galt4
|
| Ensembl Gene |
ENSMUSG00000022793 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 4 |
| Synonyms |
9130402O08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
IGL01356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38562626-38589411 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38574506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 224
(I224N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023482]
[ENSMUST00000114712]
[ENSMUST00000154902]
[ENSMUST00000231655]
[ENSMUST00000232454]
|
| AlphaFold |
Q9JJ04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023482
AA Change: I160N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: I160N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
209 |
8.4e-63 |
PFAM |
|
Pfam:Glyco_transf_7C
|
213 |
290 |
1e-30 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
224 |
289 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114712
AA Change: I160N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: I160N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
211 |
6.2e-58 |
PFAM |
|
Pfam:Glyco_transf_7C
|
213 |
290 |
6.9e-31 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
224 |
289 |
3.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119414
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154902
AA Change: I160N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
AA Change: I160N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
211 |
5.9e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231655
AA Change: I224N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232454
|
| 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 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 appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
C |
8: 46,964,500 (GRCm39) |
|
probably null |
Het |
| Adck2 |
T |
C |
6: 39,560,854 (GRCm39) |
V463A |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
| Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
| Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,619,341 (GRCm39) |
L241P |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
| Lrig1 |
A |
G |
6: 94,631,901 (GRCm39) |
Y100H |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,586,874 (GRCm39) |
P601S |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,660,865 (GRCm39) |
D419G |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
| Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
| Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
| Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
| Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
| Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
| Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
| Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,293,733 (GRCm39) |
V607L |
probably benign |
Het |
| Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
Het |
|
| Other mutations in B4galt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01414:B4galt4
|
APN |
16 |
38,578,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0831:B4galt4
|
UTSW |
16 |
38,588,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2125:B4galt4
|
UTSW |
16 |
38,586,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3950:B4galt4
|
UTSW |
16 |
38,588,384 (GRCm39) |
missense |
probably benign |
|
|
R4334:B4galt4
|
UTSW |
16 |
38,572,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4773:B4galt4
|
UTSW |
16 |
38,572,658 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6499:B4galt4
|
UTSW |
16 |
38,578,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6706:B4galt4
|
UTSW |
16 |
38,578,173 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7208:B4galt4
|
UTSW |
16 |
38,574,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:B4galt4
|
UTSW |
16 |
38,588,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:B4galt4
|
UTSW |
16 |
38,574,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:B4galt4
|
UTSW |
16 |
38,578,172 (GRCm39) |
nonsense |
probably null |
|
|
R8058:B4galt4
|
UTSW |
16 |
38,586,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8202:B4galt4
|
UTSW |
16 |
38,588,274 (GRCm39) |
missense |
probably benign |
|
|
R8900:B4galt4
|
UTSW |
16 |
38,572,404 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R9575:B4galt4
|
UTSW |
16 |
38,583,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation