Incidental Mutation 'R8775:St8sia4'
| ID |
664642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia4
|
| Ensembl Gene |
ENSMUSG00000040710 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
| Synonyms |
PST-1, PST, Siat8d, ST8SiaIV |
| MMRRC Submission |
068719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
95515407-95595296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95519472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 339
(T339S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043336]
|
| AlphaFold |
Q64692 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043336
AA Change: T339S
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: T339S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
94 |
354 |
2.2e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
| Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
| Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
| Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
| Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
| Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
| Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
| Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
| Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
| Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly damaging |
Het |
|
| Other mutations in St8sia4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01566:St8sia4
|
APN |
1 |
95,581,482 (GRCm39) |
missense |
probably benign |
0.19 |
|
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-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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCAGTCAAGTGGTGGATGC -3'
(R):5'- TACTGGCTGACTAACAAAGTTCC -3'
Sequencing Primer
(F):5'- CAGTCAAGTGGTGGATGCTGAATC -3'
(R):5'- TAGCACAGGTCTCCTCATGTATACAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation