Incidental Mutation 'R6499:B4galt4'
| ID |
519649 |
| 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 |
044631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R6499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38562626-38589411 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38578184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 210
(D210E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023482]
[ENSMUST00000114708]
[ENSMUST00000114710]
[ENSMUST00000114711]
[ENSMUST00000114712]
[ENSMUST00000154902]
[ENSMUST00000231655]
[ENSMUST00000232454]
|
| AlphaFold |
Q9JJ04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023482
AA Change: D210E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: D210E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110356
Gene: ENSMUSG00000022793
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110358
Gene: ENSMUSG00000022793
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110359
Gene: ENSMUSG00000022793
| 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: D210E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: D210E
| 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
AA Change: D210E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
AA Change: D210E
| 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 benign
Transcript: ENSMUST00000231655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232454
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
| Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
| Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
| Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
| Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
| Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
| Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
| Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
| Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
| Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
| Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
| Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
| Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
| Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
| Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
| Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
| Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
| Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCCTAGAGTATGTTGTCTTG -3'
(R):5'- TGCTGCTCTGCACATTAAGG -3'
Sequencing Primer
(F):5'- TAACACTCCTAAATGGCGGTG -3'
(R):5'- CATTAAGGGAAAATGGGCGTCTTTCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation