Incidental Mutation 'IGL01984:St8sia5'
| ID |
181841 |
| 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 # |
IGL01984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77336157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 197
(F197L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075290]
[ENSMUST00000079618]
|
| AlphaFold |
P70126 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075290
AA Change: F197L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: F197L
| 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 |
probably benign
Transcript: ENSMUST00000079618
AA Change: F161L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: F161L
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,970,537 (GRCm39) |
L24F |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,935,266 (GRCm39) |
D442G |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,487 (GRCm39) |
T634A |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,982,630 (GRCm39) |
|
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,270 (GRCm39) |
L202P |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,382,614 (GRCm39) |
S325T |
probably damaging |
Het |
| Clec2d |
A |
T |
6: 129,161,192 (GRCm39) |
E96D |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,369 (GRCm39) |
|
probably benign |
Het |
| Dcun1d5 |
T |
A |
9: 7,205,307 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,741,174 (GRCm39) |
|
probably null |
Het |
| Dpcd |
C |
T |
19: 45,565,469 (GRCm39) |
H148Y |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,629,134 (GRCm39) |
D937E |
probably benign |
Het |
| Erg |
T |
G |
16: 95,210,786 (GRCm39) |
D15A |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,547 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,103,926 (GRCm39) |
R1083Q |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,299,533 (GRCm39) |
S1012P |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,159,057 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,951,525 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
T |
6: 93,685,155 (GRCm39) |
V740D |
probably damaging |
Het |
| Nme8 |
C |
A |
13: 19,873,150 (GRCm39) |
V165L |
probably damaging |
Het |
| Odf2l |
G |
T |
3: 144,845,590 (GRCm39) |
E5* |
probably null |
Het |
| Or14j4 |
T |
C |
17: 37,934,552 (GRCm39) |
|
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,451,927 (GRCm39) |
L164S |
probably benign |
Het |
| Or56a5 |
A |
T |
7: 104,792,923 (GRCm39) |
D192E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,183 (GRCm39) |
V1001A |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,459,922 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,526,643 (GRCm39) |
A1305T |
probably benign |
Het |
| Rnps1 |
T |
C |
17: 24,643,371 (GRCm39) |
|
probably benign |
Het |
| Sult3a1 |
G |
T |
10: 33,755,205 (GRCm39) |
G257* |
probably null |
Het |
| Svep1 |
A |
C |
4: 58,068,877 (GRCm39) |
Y2970D |
possibly damaging |
Het |
| Tns3 |
G |
T |
11: 8,498,992 (GRCm39) |
Y30* |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,751,867 (GRCm39) |
P791T |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,392 (GRCm39) |
V1039A |
probably benign |
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 |
|
IGL01682:St8sia5
|
APN |
18 |
77,336,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation