Incidental Mutation 'R3717:St8sia6'
| ID |
259943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia6
|
| Ensembl Gene |
ENSMUSG00000003418 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
| Synonyms |
Siat8f, 1700007J08Rik, ST8Sia VI |
| MMRRC Submission |
040709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
13659745-13798659 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13661745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 362
(N362S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003509]
|
| AlphaFold |
Q8K4T1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003509
AA Change: N362S
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003509
Gene: ENSMUSG00000003418
AA Change: N362S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
138 |
393 |
4.2e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150781
|
| Meta Mutation Damage Score |
0.1909 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd10 |
C |
T |
16: 45,552,137 (GRCm39) |
W245* |
probably null |
Het |
| Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Bpifb6 |
A |
G |
2: 153,750,061 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,386 (GRCm39) |
V232A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,995 (GRCm39) |
M2031K |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Fgfr2 |
G |
A |
7: 129,784,487 (GRCm39) |
T270M |
probably damaging |
Het |
| Hoxd10 |
C |
T |
2: 74,524,474 (GRCm39) |
T262I |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,968,866 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,598 (GRCm39) |
H324L |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,129 (GRCm39) |
F561S |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,886 (GRCm39) |
S559P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,369 (GRCm39) |
I127F |
possibly damaging |
Het |
| Ptx3 |
G |
T |
3: 66,132,376 (GRCm39) |
S299I |
probably benign |
Het |
| Rbbp4 |
T |
A |
4: 129,222,425 (GRCm39) |
D89V |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,716,088 (GRCm39) |
E375G |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,999,420 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
| Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| Tmub2 |
G |
T |
11: 102,175,887 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,775,054 (GRCm39) |
D1996G |
possibly damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Vdac1 |
A |
G |
11: 52,267,473 (GRCm39) |
|
probably null |
Het |
| Vps51 |
G |
A |
19: 6,127,198 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,682 (GRCm39) |
R132G |
probably benign |
Het |
|
| Other mutations in St8sia6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:St8sia6
|
APN |
2 |
13,670,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:St8sia6
|
APN |
2 |
13,661,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02302:St8sia6
|
APN |
2 |
13,728,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02338:St8sia6
|
APN |
2 |
13,798,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0395:St8sia6
|
UTSW |
2 |
13,670,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0621:St8sia6
|
UTSW |
2 |
13,662,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0736:St8sia6
|
UTSW |
2 |
13,673,696 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0969:St8sia6
|
UTSW |
2 |
13,701,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1258:St8sia6
|
UTSW |
2 |
13,661,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1587:St8sia6
|
UTSW |
2 |
13,677,416 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1931:St8sia6
|
UTSW |
2 |
13,797,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3892:St8sia6
|
UTSW |
2 |
13,677,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4518:St8sia6
|
UTSW |
2 |
13,797,562 (GRCm39) |
splice site |
probably null |
|
|
R4763:St8sia6
|
UTSW |
2 |
13,677,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4933:St8sia6
|
UTSW |
2 |
13,670,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:St8sia6
|
UTSW |
2 |
13,798,188 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7199:St8sia6
|
UTSW |
2 |
13,661,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:St8sia6
|
UTSW |
2 |
13,661,896 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8937:St8sia6
|
UTSW |
2 |
13,701,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:St8sia6
|
UTSW |
2 |
13,701,664 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCGCCTTTGTAATTCATGC -3'
(R):5'- ATCCCAGGTACCTGAGACAC -3'
Sequencing Primer
(F):5'- AGCGCCTTTGTAATTCATGCTTTCTC -3'
(R):5'- CCTCGCTCTTTTCTGGAGAACTAAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation