Incidental Mutation 'R2283:St8sia3'
| ID |
243229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia3
|
| Ensembl Gene |
ENSMUSG00000056812 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
| Synonyms |
Siat8c, ST8SiaIII |
| MMRRC Submission |
040282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R2283 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
64387430-64409217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64404801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 359
(E359D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025477]
[ENSMUST00000139622]
|
| AlphaFold |
Q64689 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025477
AA Change: E359D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025477
Gene: ENSMUSG00000056812
AA Change: E359D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
113 |
377 |
8.4e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139622
|
| SMART Domains |
Protein: ENSMUSP00000121367
Gene: ENSMUSG00000056812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
53 |
229 |
2e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140903
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
| Bhmt |
G |
A |
13: 93,756,809 (GRCm39) |
P273L |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,802,140 (GRCm39) |
V283A |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
| Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
| Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
| Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
| Or2b6 |
G |
A |
13: 21,823,190 (GRCm39) |
R168C |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
| Ppa1 |
G |
A |
10: 61,496,788 (GRCm39) |
W92* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sp3 |
A |
C |
2: 72,801,521 (GRCm39) |
I164S |
possibly damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,714 (GRCm39) |
V11A |
possibly damaging |
Het |
|
| Other mutations in St8sia3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02162:St8sia3
|
APN |
18 |
64,398,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02682:St8sia3
|
APN |
18 |
64,402,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0088:St8sia3
|
UTSW |
18 |
64,400,056 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0784:St8sia3
|
UTSW |
18 |
64,404,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:St8sia3
|
UTSW |
18 |
64,402,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:St8sia3
|
UTSW |
18 |
64,402,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2433:St8sia3
|
UTSW |
18 |
64,402,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3237:St8sia3
|
UTSW |
18 |
64,402,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:St8sia3
|
UTSW |
18 |
64,398,634 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4798:St8sia3
|
UTSW |
18 |
64,404,820 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6700:St8sia3
|
UTSW |
18 |
64,398,452 (GRCm39) |
unclassified |
probably benign |
|
|
R6957:St8sia3
|
UTSW |
18 |
64,404,853 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7016:St8sia3
|
UTSW |
18 |
64,402,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7337:St8sia3
|
UTSW |
18 |
64,402,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:St8sia3
|
UTSW |
18 |
64,404,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:St8sia3
|
UTSW |
18 |
64,400,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9431:St8sia3
|
UTSW |
18 |
64,398,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACCCAAACGACTGAGC -3'
(R):5'- GAGAAGGCGTCTTTCCTTGTAAG -3'
Sequencing Primer
(F):5'- CTGAGCACAGGTATCCTAATGTATAC -3'
(R):5'- TCCTTGTAAGTGGCAGACAGGC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation