Incidental Mutation 'IGL02004:St3gal2'
ID |
182226 |
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 # |
IGL02004
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
111646554-111699112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 111696804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 317
(A317E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034197]
[ENSMUST00000040416]
[ENSMUST00000117534]
|
AlphaFold |
Q11204 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034197
AA Change: A317E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034197 Gene: ENSMUSG00000031749 AA Change: A317E
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: ENSMUST00000040416
|
SMART Domains |
Protein: ENSMUSP00000047898 Gene: ENSMUSG00000015023
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
DEXDc
|
110 |
309 |
8.58e-44 |
SMART |
HELICc
|
346 |
433 |
2.59e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117534
|
SMART Domains |
Protein: ENSMUSP00000113900 Gene: ENSMUSG00000031749
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
90 |
296 |
7.2e-82 |
PFAM |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
probably benign |
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 |
IGL02270:St3gal2
|
APN |
8 |
111,684,398 (GRCm39) |
missense |
probably benign |
|
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 |
2014-05-07 |