Incidental Mutation 'IGL02161:St8sia2'
| ID |
282464 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St8sia2
|
| Ensembl Gene |
ENSMUSG00000025789 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 |
| Synonyms |
ST8SiaII, Siat8b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
73588867-73663408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73626430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 46
(N46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026896]
[ENSMUST00000191970]
|
| AlphaFold |
O35696 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026896
AA Change: N46S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: N46S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
39 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
109 |
369 |
2.7e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191970
|
| SMART Domains |
Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
84 |
206 |
5.8e-36 |
PFAM |
|
| Coding Region Coverage |
|
| 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 is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal mossy fiber morphology, increased exploration in new environment and impaired fear responses. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,838,490 (GRCm39) |
V1024D |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,400,154 (GRCm39) |
M262L |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,498 (GRCm39) |
T1135A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,726,623 (GRCm39) |
Y2177* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,855,832 (GRCm39) |
H214P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,375,674 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,778,000 (GRCm39) |
T149I |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,436,569 (GRCm39) |
R942S |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,761,302 (GRCm39) |
A941V |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,957,654 (GRCm39) |
Q471R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,408,426 (GRCm39) |
V380I |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,648,432 (GRCm39) |
Q857L |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,745,702 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
A |
9: 15,908,346 (GRCm39) |
R2552I |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,908,347 (GRCm39) |
R2552* |
probably null |
Het |
| Fbln7 |
A |
T |
2: 128,731,711 (GRCm39) |
K166I |
probably benign |
Het |
| Glrx2 |
C |
T |
1: 143,615,421 (GRCm39) |
S8L |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,846 (GRCm39) |
I630L |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,377 (GRCm39) |
W423R |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,550,245 (GRCm39) |
E468G |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,059,762 (GRCm39) |
S566P |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,409,625 (GRCm39) |
S509P |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,602,875 (GRCm39) |
F221S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,441 (GRCm39) |
F370S |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,797 (GRCm39) |
V255L |
possibly damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,555 (GRCm39) |
S596T |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,281,887 (GRCm39) |
S472I |
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,235,940 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
C |
T |
2: 51,024,088 (GRCm39) |
V164M |
probably benign |
Het |
| Rtn4rl1 |
G |
A |
11: 75,156,666 (GRCm39) |
R366Q |
probably damaging |
Het |
| Sesn2 |
A |
T |
4: 132,224,229 (GRCm39) |
I393N |
probably damaging |
Het |
| Svopl |
A |
G |
6: 38,013,750 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,635,583 (GRCm39) |
Q178* |
probably null |
Het |
| Vax2 |
T |
C |
6: 83,714,885 (GRCm39) |
S267P |
probably damaging |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,298 (GRCm39) |
Y143* |
probably null |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,123 (GRCm39) |
S375P |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,814 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,835,146 (GRCm39) |
S94N |
possibly damaging |
Het |
|
| Other mutations in St8sia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02261:St8sia2
|
APN |
7 |
73,616,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:St8sia2
|
APN |
7 |
73,626,397 (GRCm39) |
intron |
probably benign |
|
|
IGL02971:St8sia2
|
APN |
7 |
73,616,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB001:St8sia2
|
UTSW |
7 |
73,616,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:St8sia2
|
UTSW |
7 |
73,616,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:St8sia2
|
UTSW |
7 |
73,616,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:St8sia2
|
UTSW |
7 |
73,621,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:St8sia2
|
UTSW |
7 |
73,593,038 (GRCm39) |
nonsense |
probably null |
|
|
R0052:St8sia2
|
UTSW |
7 |
73,593,038 (GRCm39) |
nonsense |
probably null |
|
|
R0733:St8sia2
|
UTSW |
7 |
73,610,588 (GRCm39) |
missense |
probably benign |
|
|
R1202:St8sia2
|
UTSW |
7 |
73,621,783 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1419:St8sia2
|
UTSW |
7 |
73,616,742 (GRCm39) |
nonsense |
probably null |
|
|
R1962:St8sia2
|
UTSW |
7 |
73,593,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:St8sia2
|
UTSW |
7 |
73,592,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4106:St8sia2
|
UTSW |
7 |
73,610,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:St8sia2
|
UTSW |
7 |
73,616,709 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5541:St8sia2
|
UTSW |
7 |
73,616,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5859:St8sia2
|
UTSW |
7 |
73,616,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:St8sia2
|
UTSW |
7 |
73,610,458 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6260:St8sia2
|
UTSW |
7 |
73,626,441 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6416:St8sia2
|
UTSW |
7 |
73,621,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:St8sia2
|
UTSW |
7 |
73,616,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7424:St8sia2
|
UTSW |
7 |
73,610,650 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7763:St8sia2
|
UTSW |
7 |
73,593,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:St8sia2
|
UTSW |
7 |
73,616,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:St8sia2
|
UTSW |
7 |
73,593,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:St8sia2
|
UTSW |
7 |
73,610,654 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9139:St8sia2
|
UTSW |
7 |
73,616,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation