Incidental Mutation 'R6607:A4galt'
| ID |
525770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A4galt
|
| Ensembl Gene |
ENSMUSG00000047878 |
| Gene Name |
alpha 1,4-galactosyltransferase |
| Synonyms |
Gb3 synthase |
| MMRRC Submission |
044730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83110923-83135930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83112507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 92
(D92G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049530]
[ENSMUST00000164614]
[ENSMUST00000229687]
|
| AlphaFold |
Q67BJ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049530
AA Change: D92G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057999
Gene: ENSMUSG00000047878
AA Change: D92G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:Gly_transf_sug
|
97 |
221 |
2.6e-30 |
PFAM |
|
Pfam:Gb3_synth
|
228 |
355 |
2.3e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164614
AA Change: D92G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129719
Gene: ENSMUSG00000047878
AA Change: D92G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:Gly_transf_sug
|
97 |
221 |
2.6e-30 |
PFAM |
|
Pfam:Gb3_synth
|
227 |
359 |
3.8e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229687
|
| Meta Mutation Damage Score |
0.1441 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (27/28) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mice display reduced sensitivity to verotoxin but do not display any gross morphological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
| Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
| Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,163,128 (GRCm39) |
D172G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
| Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
| Esyt2 |
G |
A |
12: 116,332,360 (GRCm39) |
D781N |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,270 (GRCm39) |
T106S |
possibly damaging |
Het |
| Foxq1 |
A |
G |
13: 31,743,129 (GRCm39) |
D77G |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
| Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
| Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Rbks |
C |
T |
5: 31,805,136 (GRCm39) |
V243M |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,891 (GRCm39) |
Y224C |
probably benign |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
| Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
possibly damaging |
Het |
|
| Other mutations in A4galt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01729:A4galt
|
APN |
15 |
83,112,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01827:A4galt
|
APN |
15 |
83,112,135 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02745:A4galt
|
APN |
15 |
83,112,282 (GRCm39) |
missense |
probably benign |
|
|
IGL03201:A4galt
|
APN |
15 |
83,112,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:A4galt
|
UTSW |
15 |
83,112,490 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0440:A4galt
|
UTSW |
15 |
83,112,694 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2763:A4galt
|
UTSW |
15 |
83,111,871 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4331:A4galt
|
UTSW |
15 |
83,111,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:A4galt
|
UTSW |
15 |
83,111,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:A4galt
|
UTSW |
15 |
83,112,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:A4galt
|
UTSW |
15 |
83,112,312 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6247:A4galt
|
UTSW |
15 |
83,112,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7908:A4galt
|
UTSW |
15 |
83,112,577 (GRCm39) |
missense |
probably benign |
|
|
R8479:A4galt
|
UTSW |
15 |
83,112,061 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGTCGTATCCAGACATTAGG -3'
(R):5'- TGTTCCCATCTGGAGGAGAC -3'
Sequencing Primer
(F):5'- GTCGTATCCAGACATTAGGAAAAC -3'
(R):5'- ATCTGGAGGAGACCATGTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation