Incidental Mutation 'IGL00694:St3gal2'
| ID |
14248 |
| 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 # |
IGL00694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111646554-111699112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111696213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 266
(H266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034197]
[ENSMUST00000117534]
|
| AlphaFold |
Q11204 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034197
AA Change: H266L
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749
AA Change: H266L
| 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 damaging
Transcript: ENSMUST00000117534
AA Change: H266L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113900
Gene: ENSMUSG00000031749
AA Change: H266L
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,145,033 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
T |
2: 113,982,006 (GRCm39) |
D259E |
probably damaging |
Het |
| Arl14ep |
A |
T |
2: 106,797,537 (GRCm39) |
F153L |
probably damaging |
Het |
| Asb15 |
G |
T |
6: 24,570,663 (GRCm39) |
R547L |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,455,427 (GRCm39) |
V1020G |
probably damaging |
Het |
| Coq2 |
C |
T |
5: 100,803,180 (GRCm39) |
S370N |
probably benign |
Het |
| Crebl2 |
T |
A |
6: 134,826,158 (GRCm39) |
S36R |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,310,079 (GRCm39) |
T263S |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,562 (GRCm39) |
I190T |
possibly damaging |
Het |
| Fbn2 |
T |
G |
18: 58,170,881 (GRCm39) |
E2170A |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,761,500 (GRCm39) |
*129C |
probably null |
Het |
| Hc |
T |
C |
2: 34,881,641 (GRCm39) |
I1436V |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,498,159 (GRCm39) |
F534I |
probably damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,057,925 (GRCm39) |
R800Q |
probably benign |
Het |
| Npat |
A |
G |
9: 53,474,817 (GRCm39) |
T870A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Potegl |
A |
T |
2: 23,120,180 (GRCm39) |
Q192L |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,511,204 (GRCm39) |
I127N |
probably damaging |
Het |
| Spag1 |
A |
T |
15: 36,227,317 (GRCm39) |
E658V |
possibly damaging |
Het |
| Sult6b2 |
A |
G |
6: 142,736,015 (GRCm39) |
I193T |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,238 (GRCm39) |
F107L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,744 (GRCm39) |
D475G |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,155,993 (GRCm39) |
R169S |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,156 (GRCm39) |
N175S |
probably benign |
Het |
|
| Other mutations in St3gal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02004:St3gal2
|
APN |
8 |
111,696,804 (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 |
2012-12-06 |
Incidental Mutation