Incidental Mutation 'R5220:St8sia4'
ID |
402253 |
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 |
042793-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5220 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
95515407-95595296 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95555460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 190
(M190T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043336]
[ENSMUST00000189556]
|
AlphaFold |
Q64692 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043336
AA Change: M190T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043477 Gene: ENSMUSG00000040710 AA Change: M190T
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 |
possibly damaging
Transcript: ENSMUST00000189556
AA Change: M190T
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140534 Gene: ENSMUSG00000040710 AA Change: M190T
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
Atg9a |
C |
T |
1: 75,162,372 (GRCm39) |
V505M |
probably damaging |
Het |
Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
Clec2g |
A |
G |
6: 128,958,269 (GRCm39) |
S100G |
probably benign |
Het |
Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
Fbxw8 |
T |
C |
5: 118,233,776 (GRCm39) |
D285G |
possibly damaging |
Het |
Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
Hycc1 |
A |
C |
5: 24,170,220 (GRCm39) |
S376R |
possibly damaging |
Het |
Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
Slc1a5 |
T |
A |
7: 16,527,759 (GRCm39) |
W352R |
probably damaging |
Het |
Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
Zfp109 |
A |
G |
7: 23,928,179 (GRCm39) |
V418A |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCGCACTTGCAGTTTGTTC -3'
(R):5'- ACCAGGCAGATTAATTGGGG -3'
Sequencing Primer
(F):5'- CGCACTTGCAGTTTGTTCTTAAG -3'
(R):5'- CCAGGCAGATTAATTGGGGAGATTTG -3'
|
Posted On |
2016-07-22 |