Incidental Mutation 'IGL02162:St8sia3'
| ID |
282509 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St8sia3
|
| Ensembl Gene |
ENSMUSG00000056812 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
| Synonyms |
Siat8c, ST8SiaIII |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
IGL02162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
64387430-64409217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64398651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 37
(N37D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025477]
[ENSMUST00000139622]
|
| AlphaFold |
Q64689 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025477
AA Change: N37D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025477
Gene: ENSMUSG00000056812
AA Change: N37D
| 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: 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
T |
C |
14: 44,199,966 (GRCm39) |
L10S |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,177,489 (GRCm39) |
T577A |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,460,564 (GRCm39) |
P297T |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,911,531 (GRCm39) |
|
probably benign |
Het |
| Ctss |
A |
G |
3: 95,454,132 (GRCm39) |
K227R |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,094,230 (GRCm39) |
R2902Q |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,881,810 (GRCm39) |
A2862S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,796,502 (GRCm39) |
|
probably null |
Het |
| Fbxw5 |
C |
A |
2: 25,393,283 (GRCm39) |
Q16K |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,774,660 (GRCm39) |
C78Y |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,076,003 (GRCm39) |
Y688F |
possibly damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,353 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,298,671 (GRCm39) |
H63R |
possibly damaging |
Het |
| Ikbke |
A |
G |
1: 131,201,452 (GRCm39) |
S132P |
possibly damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,153,089 (GRCm39) |
I340T |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,446,163 (GRCm39) |
|
probably benign |
Het |
| Nfkbie |
T |
G |
17: 45,867,242 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
G |
T |
3: 109,842,311 (GRCm39) |
S154* |
probably null |
Het |
| Or6c208 |
C |
T |
10: 129,223,973 (GRCm39) |
P157L |
probably benign |
Het |
| Or8b12b |
A |
G |
9: 37,684,227 (GRCm39) |
I91V |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,179 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
C |
T |
8: 105,966,605 (GRCm39) |
|
probably benign |
Het |
| Plec |
C |
T |
15: 76,064,360 (GRCm39) |
M1971I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,717,714 (GRCm39) |
F1067I |
probably damaging |
Het |
| Qpctl |
A |
G |
7: 18,878,606 (GRCm39) |
F290L |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,523,970 (GRCm39) |
Y288F |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,422 (GRCm39) |
D311G |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,688 (GRCm39) |
I33V |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,218,210 (GRCm39) |
F78L |
probably benign |
Het |
| Zfp541 |
C |
A |
7: 15,813,393 (GRCm39) |
T682K |
possibly damaging |
Het |
|
| Other mutations in St8sia3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2283:St8sia3
|
UTSW |
18 |
64,404,801 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation