Incidental Mutation 'R8202:B4galt4'
| ID |
635735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galt4
|
| Ensembl Gene |
ENSMUSG00000022793 |
| Gene Name |
UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 4 |
| Synonyms |
9130402O08Rik |
| MMRRC Submission |
067625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R8202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38562626-38589411 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38588274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 306
(Q306R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023482]
[ENSMUST00000114708]
[ENSMUST00000114710]
[ENSMUST00000114711]
[ENSMUST00000114712]
[ENSMUST00000154902]
|
| AlphaFold |
Q9JJ04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023482
AA Change: Q306R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: Q306R
| 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 benign
Transcript: ENSMUST00000114708
AA Change: Q35R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110356
Gene: ENSMUSG00000022793
AA Change: Q35R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1j8wb_
|
1 |
71 |
2e-30 |
SMART |
|
PDB:2FYD|D
|
1 |
73 |
3e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114710
AA Change: Q35R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110358
Gene: ENSMUSG00000022793
AA Change: Q35R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1j8wb_
|
1 |
71 |
2e-30 |
SMART |
|
PDB:2FYD|D
|
1 |
73 |
3e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114711
AA Change: Q35R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110359
Gene: ENSMUSG00000022793
AA Change: Q35R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1j8wb_
|
1 |
71 |
2e-30 |
SMART |
|
PDB:2FYD|D
|
1 |
73 |
3e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114712
AA Change: Q306R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: Q306R
| 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 |
probably benign
Transcript: ENSMUST00000154902
|
| SMART Domains |
Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
77 |
211 |
5.9e-59 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,057 (GRCm39) |
R36C |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,728,874 (GRCm39) |
H127L |
probably damaging |
Het |
| Bckdha |
G |
A |
7: 25,329,738 (GRCm39) |
H431Y |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,274,195 (GRCm39) |
M2256L |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,607,768 (GRCm39) |
F298L |
possibly damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,896,953 (GRCm39) |
A640T |
|
Het |
| Cers3 |
A |
G |
7: 66,435,761 (GRCm39) |
D240G |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,919,495 (GRCm39) |
E99G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,369,649 (GRCm39) |
V1609A |
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,502,486 (GRCm39) |
F1329S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,355,202 (GRCm39) |
Q1825R |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,720,545 (GRCm39) |
A335E |
possibly damaging |
Het |
| Heatr6 |
C |
A |
11: 83,650,234 (GRCm39) |
T230K |
possibly damaging |
Het |
| Klhl11 |
G |
A |
11: 100,354,150 (GRCm39) |
S557L |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,647 (GRCm39) |
N347D |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,227,497 (GRCm39) |
I313V |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,532,448 (GRCm39) |
T131M |
probably damaging |
Het |
| Npr1 |
T |
A |
3: 90,368,731 (GRCm39) |
Y443F |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,765 (GRCm39) |
N163S |
possibly damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,604 (GRCm39) |
I78V |
probably benign |
Het |
| Oplah |
C |
T |
15: 76,186,669 (GRCm39) |
G670D |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,734,198 (GRCm39) |
S30P |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,968 (GRCm39) |
E269D |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,518 (GRCm39) |
*313W |
probably null |
Het |
| Pcnx1 |
T |
G |
12: 81,941,821 (GRCm39) |
I73S |
probably benign |
Het |
| Pigp |
A |
T |
16: 94,165,528 (GRCm39) |
N204K |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,065,802 (GRCm39) |
I78F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,189,750 (GRCm39) |
Y1516C |
probably damaging |
Het |
| Rab31 |
T |
C |
17: 65,974,881 (GRCm39) |
E157G |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,180 (GRCm39) |
Y445H |
probably damaging |
Het |
| Rnf220 |
T |
A |
4: 117,347,070 (GRCm39) |
H114L |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,790,457 (GRCm39) |
W1450R |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,761,786 (GRCm39) |
Y69C |
probably benign |
Het |
| Smc3 |
T |
C |
19: 53,617,123 (GRCm39) |
I512T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| St3gal3 |
T |
A |
4: 117,964,868 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,011,917 (GRCm39) |
F338L |
probably damaging |
Het |
| Tgs1 |
G |
A |
4: 3,586,097 (GRCm39) |
A325T |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,494 (GRCm39) |
I261K |
probably damaging |
Het |
| Trim3 |
A |
T |
7: 105,260,632 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Unc13c |
C |
T |
9: 73,643,844 (GRCm39) |
V1207M |
probably damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,749 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,557,153 (GRCm39) |
C516S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,851,328 (GRCm39) |
V2321A |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,387,589 (GRCm39) |
T4874K |
unknown |
Het |
| Zfp677 |
T |
C |
17: 21,613,535 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,642,760 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in B4galt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:B4galt4
|
APN |
16 |
38,574,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCACAAATACCTGGCTGTC -3'
(R):5'- AGTTCTTAACGTTGTGCTACTATGG -3'
Sequencing Primer
(F):5'- CCACAAATACCTGGCTGTCATTATTG -3'
(R):5'- GCTACTATGGAAGTCTCTAGGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation