Incidental Mutation 'R4638:B4galt7'
| ID |
350805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B4galt7
|
| Ensembl Gene |
ENSMUSG00000021504 |
| Gene Name |
beta-1,4-galactosyltransferase 7 |
| Synonyms |
|
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
98 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55747709-55758256 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 55747959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064701]
[ENSMUST00000100764]
[ENSMUST00000109905]
[ENSMUST00000133176]
[ENSMUST00000224741]
|
| AlphaFold |
Q8R087 |
| Predicted Effect |
silent
Transcript: ENSMUST00000064701
|
| SMART Domains |
Protein: ENSMUSP00000068532
Gene: ENSMUSG00000021504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
62 |
177 |
8.5e-27 |
PFAM |
|
Pfam:Glyco_transf_7C
|
181 |
260 |
2.6e-28 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000100764
|
| SMART Domains |
Protein: ENSMUSP00000098327
Gene: ENSMUSG00000021504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
72 |
180 |
9.2e-29 |
PFAM |
|
Pfam:Glyco_transf_7C
|
181 |
263 |
1.3e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109905
|
| SMART Domains |
Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
37 |
230 |
2.43e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133176
|
| SMART Domains |
Protein: ENSMUSP00000123292
Gene: ENSMUSG00000021504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7N
|
18 |
124 |
1.1e-28 |
PFAM |
|
Pfam:Glyco_transf_7C
|
125 |
204 |
5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225723
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member 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 which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
| Other mutations in B4galt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00797:B4galt7
|
APN |
13 |
55,755,006 (GRCm39) |
splice site |
probably benign |
|
|
IGL01515:B4galt7
|
APN |
13 |
55,757,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03384:B4galt7
|
APN |
13 |
55,757,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:B4galt7
|
UTSW |
13 |
55,756,152 (GRCm39) |
splice site |
probably null |
|
|
R4633:B4galt7
|
UTSW |
13 |
55,756,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:B4galt7
|
UTSW |
13 |
55,752,111 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4672:B4galt7
|
UTSW |
13 |
55,757,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:B4galt7
|
UTSW |
13 |
55,752,162 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7200:B4galt7
|
UTSW |
13 |
55,756,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8427:B4galt7
|
UTSW |
13 |
55,757,138 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9645:B4galt7
|
UTSW |
13 |
55,756,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2015-10-08 |
Incidental Mutation