Incidental Mutation 'R2098:St8sia4'
| ID |
230345 |
| 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 |
040102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2098 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
95515407-95595296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95581253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 163
(H163R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043336]
[ENSMUST00000189556]
|
| AlphaFold |
Q64692 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043336
AA Change: H163R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: H163R
| 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 damaging
Transcript: ENSMUST00000189556
AA Change: H163R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: H163R
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,927,405 (GRCm39) |
E1316G |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,171,207 (GRCm39) |
T1329K |
probably damaging |
Het |
| Arhgef10l |
G |
C |
4: 140,306,743 (GRCm39) |
L104V |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,386,500 (GRCm39) |
S298P |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,540,558 (GRCm39) |
V1385M |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Cd84 |
G |
A |
1: 171,713,148 (GRCm39) |
C291Y |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,863,457 (GRCm39) |
I113V |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,719,053 (GRCm39) |
Q318* |
probably null |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,084,479 (GRCm39) |
I25F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,216,279 (GRCm39) |
N1208K |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,609,832 (GRCm39) |
S203P |
probably damaging |
Het |
| Ehbp1l1 |
G |
T |
19: 5,758,686 (GRCm39) |
T1652K |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,935,705 (GRCm39) |
|
probably null |
Het |
| Fam3d |
T |
C |
14: 8,361,479 (GRCm38) |
I47V |
probably benign |
Het |
| Gm10250 |
A |
G |
15: 5,150,296 (GRCm39) |
|
probably benign |
Het |
| Gm9772 |
T |
C |
17: 22,225,618 (GRCm39) |
H94R |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,247,420 (GRCm39) |
G1184D |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,906,043 (GRCm39) |
D255V |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,932,064 (GRCm39) |
H1651R |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,167,464 (GRCm39) |
V385A |
possibly damaging |
Het |
| Mmp1b |
G |
A |
9: 7,386,984 (GRCm39) |
S76L |
probably benign |
Het |
| Mrps2 |
C |
A |
2: 28,358,327 (GRCm39) |
T39K |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,188,808 (GRCm39) |
Y715H |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,441,055 (GRCm39) |
E392G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,960,817 (GRCm39) |
E3374K |
probably damaging |
Het |
| Or2a20 |
G |
A |
6: 43,194,437 (GRCm39) |
V197I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,215 (GRCm39) |
I89F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,478 (GRCm39) |
V137A |
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,524,073 (GRCm39) |
M51K |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,626,768 (GRCm39) |
P317S |
probably damaging |
Het |
| Prl5a1 |
T |
C |
13: 28,329,488 (GRCm39) |
S56P |
probably damaging |
Het |
| Psmd1 |
A |
G |
1: 86,009,823 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
T |
C |
11: 121,733,305 (GRCm39) |
C732R |
probably damaging |
Het |
| Rad51c |
A |
T |
11: 87,293,589 (GRCm39) |
V71E |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,621,560 (GRCm39) |
I619K |
possibly damaging |
Het |
| Sgpp1 |
T |
G |
12: 75,763,284 (GRCm39) |
D299A |
probably damaging |
Het |
| Slc16a4 |
C |
A |
3: 107,208,163 (GRCm39) |
Y224* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,378,175 (GRCm39) |
S167L |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,595,315 (GRCm39) |
I559T |
probably damaging |
Het |
| Spire1 |
A |
G |
18: 67,636,536 (GRCm39) |
F364L |
probably damaging |
Het |
| Srek1 |
G |
A |
13: 103,881,363 (GRCm39) |
T421I |
unknown |
Het |
| Supt6 |
A |
G |
11: 78,104,087 (GRCm39) |
|
probably null |
Het |
| Tas2r103 |
T |
C |
6: 133,013,560 (GRCm39) |
T169A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,823 (GRCm39) |
S308P |
probably damaging |
Het |
| V1rd19 |
C |
T |
7: 23,703,160 (GRCm39) |
L209F |
probably damaging |
Het |
| Zfp267 |
T |
A |
3: 36,220,289 (GRCm39) |
S771T |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGACAAGGTATTCGACTTTTC -3'
(R):5'- GTCATACACTATGTGCTGGACAG -3'
Sequencing Primer
(F):5'- CCACATAAATGGTGACGT -3'
(R):5'- ACTATGTGCTGGACAGACGCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation