Incidental Mutation 'IGL02270:St3gal2'
| ID |
287092 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St3gal2
|
| Ensembl Gene |
ENSMUSG00000031749 |
| Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 2 |
| Synonyms |
Siat5, ST3GalII |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02270
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111646554-111699112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111684398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 19
(I19V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034197]
[ENSMUST00000117534]
|
| AlphaFold |
Q11204 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034197
AA Change: I19V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749
AA Change: I19V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
94 |
349 |
3.8e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117534
AA Change: I19V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113900
Gene: ENSMUSG00000031749
AA Change: I19V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
90 |
296 |
7.2e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141464
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene apparently display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,707,314 (GRCm39) |
|
probably null |
Het |
| Bmi1 |
T |
A |
2: 18,689,269 (GRCm39) |
S318T |
probably benign |
Het |
| Cntnap5c |
G |
A |
17: 58,341,848 (GRCm39) |
V180I |
probably benign |
Het |
| Cyp2b10 |
A |
G |
7: 25,613,362 (GRCm39) |
E186G |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,465,708 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,315,790 (GRCm39) |
F901L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,052 (GRCm39) |
N3003I |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,476,402 (GRCm39) |
D124G |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,995,139 (GRCm39) |
I1144N |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,556,961 (GRCm39) |
V489I |
possibly damaging |
Het |
| Garem1 |
A |
G |
18: 21,281,507 (GRCm39) |
V283A |
probably damaging |
Het |
| Gfra2 |
G |
A |
14: 71,163,347 (GRCm39) |
R210H |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,901,371 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
A |
T |
14: 51,759,341 (GRCm39) |
M107L |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,229,479 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,300,361 (GRCm39) |
D1558N |
probably damaging |
Het |
| Mylk4 |
A |
G |
13: 32,913,049 (GRCm39) |
|
probably benign |
Het |
| Or14j9 |
G |
T |
17: 37,874,471 (GRCm39) |
H244N |
possibly damaging |
Het |
| Or1e16 |
A |
G |
11: 73,286,191 (GRCm39) |
V219A |
probably benign |
Het |
| Or52n5 |
A |
G |
7: 104,588,576 (GRCm39) |
N281S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,630 (GRCm39) |
C146S |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,368 (GRCm39) |
R480G |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,835,416 (GRCm39) |
E185G |
probably damaging |
Het |
| S1pr3 |
T |
C |
13: 51,573,092 (GRCm39) |
I91T |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,728,398 (GRCm39) |
T104A |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,215,357 (GRCm39) |
D419G |
probably damaging |
Het |
| Sycp1 |
C |
A |
3: 102,803,259 (GRCm39) |
C517F |
probably benign |
Het |
| Trav15-1-dv6-1 |
G |
A |
14: 53,797,455 (GRCm39) |
E35K |
possibly damaging |
Het |
| Vmn1r121 |
T |
C |
7: 20,832,401 (GRCm39) |
E13G |
probably damaging |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,176 (GRCm39) |
S114T |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,686,950 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in St3gal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00694:St3gal2
|
APN |
8 |
111,696,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02004:St3gal2
|
APN |
8 |
111,696,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:St3gal2
|
UTSW |
8 |
111,696,738 (GRCm39) |
splice site |
probably null |
|
|
R3695:St3gal2
|
UTSW |
8 |
111,688,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4297:St3gal2
|
UTSW |
8 |
111,688,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4298:St3gal2
|
UTSW |
8 |
111,688,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:St3gal2
|
UTSW |
8 |
111,688,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4464:St3gal2
|
UTSW |
8 |
111,694,134 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4691:St3gal2
|
UTSW |
8 |
111,684,417 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4831:St3gal2
|
UTSW |
8 |
111,684,480 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5072:St3gal2
|
UTSW |
8 |
111,684,350 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5992:St3gal2
|
UTSW |
8 |
111,696,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:St3gal2
|
UTSW |
8 |
111,688,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation