Incidental Mutation 'IGL01682:St8sia5'
| ID |
103847 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St8sia5
|
| Ensembl Gene |
ENSMUSG00000025425 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
| Synonyms |
ST8SiaV, Siat8e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77336196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 210
(K210E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075290]
[ENSMUST00000079618]
|
| AlphaFold |
P70126 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075290
AA Change: K210E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: K210E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
152 |
407 |
6.4e-74 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079618
AA Change: K174E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: K174E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
112 |
372 |
5.4e-79 |
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 may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
T |
C |
12: 37,407,626 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,330,041 (GRCm39) |
G93D |
probably damaging |
Het |
| C2cd6 |
T |
G |
1: 59,101,660 (GRCm39) |
Y333S |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,263,067 (GRCm39) |
E414G |
possibly damaging |
Het |
| Capn10 |
C |
A |
1: 92,868,106 (GRCm39) |
T191K |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,287,187 (GRCm39) |
R328S |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,954,397 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,228 (GRCm39) |
V486D |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,943,267 (GRCm39) |
L241I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,052,785 (GRCm39) |
A2965E |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,205,743 (GRCm39) |
C1112S |
probably damaging |
Het |
| Gm10228 |
T |
A |
16: 88,838,073 (GRCm39) |
Y77F |
unknown |
Het |
| Gng3 |
T |
C |
19: 8,815,944 (GRCm39) |
I25V |
probably benign |
Het |
| Gramd2a |
A |
G |
9: 59,619,393 (GRCm39) |
I61M |
possibly damaging |
Het |
| Hcar2 |
T |
C |
5: 124,002,582 (GRCm39) |
N307S |
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,863,134 (GRCm39) |
E529K |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,412,941 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,465,981 (GRCm39) |
Q33R |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,410,847 (GRCm39) |
K1447R |
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,671,376 (GRCm39) |
D426G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,314,188 (GRCm39) |
G138S |
probably damaging |
Het |
| Or51f2 |
C |
T |
7: 102,526,440 (GRCm39) |
L38F |
probably benign |
Het |
| Pip4k2a |
A |
G |
2: 19,002,779 (GRCm39) |
S10P |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,552,774 (GRCm39) |
|
probably null |
Het |
| Rprd1b |
T |
C |
2: 157,892,080 (GRCm39) |
I201T |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,869,696 (GRCm39) |
N719S |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,169,944 (GRCm39) |
G939E |
probably benign |
Het |
| Trav3-1 |
G |
A |
14: 52,818,649 (GRCm39) |
V108M |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,416,170 (GRCm39) |
I820T |
possibly damaging |
Het |
|
| Other mutations in St8sia5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:St8sia5
|
APN |
18 |
77,342,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01320:St8sia5
|
APN |
18 |
77,342,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01984:St8sia5
|
APN |
18 |
77,336,157 (GRCm39) |
missense |
probably benign |
0.03 |
|
ANU22:St8sia5
|
UTSW |
18 |
77,342,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:St8sia5
|
UTSW |
18 |
77,342,420 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0392:St8sia5
|
UTSW |
18 |
77,342,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:St8sia5
|
UTSW |
18 |
77,333,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0696:St8sia5
|
UTSW |
18 |
77,342,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1231:St8sia5
|
UTSW |
18 |
77,320,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1559:St8sia5
|
UTSW |
18 |
77,299,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2058:St8sia5
|
UTSW |
18 |
77,342,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:St8sia5
|
UTSW |
18 |
77,342,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:St8sia5
|
UTSW |
18 |
77,320,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4399:St8sia5
|
UTSW |
18 |
77,340,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:St8sia5
|
UTSW |
18 |
77,342,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5986:St8sia5
|
UTSW |
18 |
77,342,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6301:St8sia5
|
UTSW |
18 |
77,333,836 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7020:St8sia5
|
UTSW |
18 |
77,333,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7087:St8sia5
|
UTSW |
18 |
77,342,238 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7784:St8sia5
|
UTSW |
18 |
77,342,246 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8037:St8sia5
|
UTSW |
18 |
77,336,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8153:St8sia5
|
UTSW |
18 |
77,340,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8544:St8sia5
|
UTSW |
18 |
77,342,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:St8sia5
|
UTSW |
18 |
77,320,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8906:St8sia5
|
UTSW |
18 |
77,336,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8980:St8sia5
|
UTSW |
18 |
77,333,761 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9294:St8sia5
|
UTSW |
18 |
77,342,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation