Incidental Mutation 'IGL01566:St8sia4'
| ID |
90985 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St8sia4
|
| Ensembl Gene |
ENSMUSG00000040710 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
| Synonyms |
PST-1, PST, Siat8d, ST8SiaIV |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
95515407-95595296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95581482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 87
(R87S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043336]
[ENSMUST00000189556]
|
| AlphaFold |
Q64692 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043336
AA Change: R87S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: R87S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
94 |
354 |
2.2e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189556
AA Change: R87S
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: R87S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
90 |
266 |
2.2e-42 |
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 catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null adult mice exhibit impaired long term potentiation and impaired long term depression in hippocampal CA1 synapses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,447,285 (GRCm39) |
V149A |
possibly damaging |
Het |
| Casc3 |
T |
C |
11: 98,714,227 (GRCm39) |
|
probably null |
Het |
| Dhdds |
T |
C |
4: 133,718,648 (GRCm39) |
I162V |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,469,840 (GRCm39) |
|
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,034,714 (GRCm39) |
D58V |
unknown |
Het |
| Gcn1 |
A |
G |
5: 115,749,117 (GRCm39) |
N1883S |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,634,661 (GRCm39) |
L235P |
probably damaging |
Het |
| Jkampl |
G |
A |
6: 73,445,673 (GRCm39) |
T292I |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Mme |
T |
C |
3: 63,269,350 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
G |
T |
2: 38,617,901 (GRCm39) |
Q419K |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,603,422 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
C |
A |
8: 34,101,791 (GRCm39) |
R110S |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,965,551 (GRCm39) |
Y322C |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,465 (GRCm39) |
V174A |
probably damaging |
Het |
| Tfdp2 |
A |
G |
9: 96,177,083 (GRCm39) |
E5G |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,442,881 (GRCm39) |
I267T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,365 (GRCm39) |
L957P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,445 (GRCm39) |
|
probably benign |
Het |
| Ubqln1 |
A |
T |
13: 58,327,481 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,044,454 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in St8sia4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02109:St8sia4
|
APN |
1 |
95,588,617 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03117:St8sia4
|
APN |
1 |
95,519,508 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03280:St8sia4
|
APN |
1 |
95,581,499 (GRCm39) |
splice site |
probably benign |
|
|
IGL03328:St8sia4
|
APN |
1 |
95,588,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0336:St8sia4
|
UTSW |
1 |
95,581,283 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0433:St8sia4
|
UTSW |
1 |
95,519,429 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1217:St8sia4
|
UTSW |
1 |
95,581,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:St8sia4
|
UTSW |
1 |
95,581,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:St8sia4
|
UTSW |
1 |
95,519,537 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1891:St8sia4
|
UTSW |
1 |
95,519,433 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1909:St8sia4
|
UTSW |
1 |
95,555,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:St8sia4
|
UTSW |
1 |
95,581,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2322:St8sia4
|
UTSW |
1 |
95,581,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:St8sia4
|
UTSW |
1 |
95,555,411 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4365:St8sia4
|
UTSW |
1 |
95,519,517 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4852:St8sia4
|
UTSW |
1 |
95,588,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:St8sia4
|
UTSW |
1 |
95,519,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5074:St8sia4
|
UTSW |
1 |
95,594,910 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5220:St8sia4
|
UTSW |
1 |
95,555,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5611:St8sia4
|
UTSW |
1 |
95,555,409 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5970:St8sia4
|
UTSW |
1 |
95,581,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:St8sia4
|
UTSW |
1 |
95,581,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6683:St8sia4
|
UTSW |
1 |
95,581,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:St8sia4
|
UTSW |
1 |
95,519,418 (GRCm39) |
missense |
probably benign |
|
|
R7937:St8sia4
|
UTSW |
1 |
95,581,320 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8775:St8sia4
|
UTSW |
1 |
95,519,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8775-TAIL:St8sia4
|
UTSW |
1 |
95,519,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9095:St8sia4
|
UTSW |
1 |
95,519,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9252:St8sia4
|
UTSW |
1 |
95,555,232 (GRCm39) |
frame shift |
probably null |
|
|
R9433:St8sia4
|
UTSW |
1 |
95,555,364 (GRCm39) |
missense |
|
|
|
X0063:St8sia4
|
UTSW |
1 |
95,519,648 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:St8sia4
|
UTSW |
1 |
95,595,181 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation