Incidental Mutation 'IGL02971:St8sia2'
ID |
365809 |
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 # |
IGL02971
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
73588867-73663408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73616559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 139
(V139M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026896]
[ENSMUST00000191970]
|
AlphaFold |
O35696 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026896
AA Change: V160M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026896 Gene: ENSMUSG00000025789 AA Change: V160M
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 damaging
Transcript: ENSMUST00000191970
AA Change: V139M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141307 Gene: ENSMUSG00000025789 AA Change: V139M
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018P22Rik |
C |
T |
2: 103,953,564 (GRCm39) |
T130I |
probably benign |
Het |
Ahi1 |
T |
C |
10: 20,876,450 (GRCm39) |
L787P |
possibly damaging |
Het |
Atf3 |
A |
G |
1: 190,909,640 (GRCm39) |
S10P |
probably benign |
Het |
Cdr2l |
A |
G |
11: 115,281,726 (GRCm39) |
N77S |
probably damaging |
Het |
Cnp |
A |
G |
11: 100,467,525 (GRCm39) |
D156G |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,145,894 (GRCm39) |
D982E |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,878,587 (GRCm39) |
L190S |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,777,325 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,384,607 (GRCm39) |
D3117G |
probably damaging |
Het |
Dock5 |
T |
C |
14: 67,994,558 (GRCm39) |
E1834G |
probably null |
Het |
Eea1 |
A |
G |
10: 95,877,389 (GRCm39) |
T1368A |
probably benign |
Het |
Fam83f |
T |
C |
15: 80,556,350 (GRCm39) |
V78A |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,800,898 (GRCm39) |
V1315I |
probably damaging |
Het |
Fsd2 |
A |
T |
7: 81,198,671 (GRCm39) |
Y364* |
probably null |
Het |
Gm21976 |
G |
A |
13: 98,439,057 (GRCm39) |
G16R |
probably null |
Het |
Guca2b |
A |
G |
4: 119,514,885 (GRCm39) |
S59P |
probably damaging |
Het |
Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
Hdac2 |
A |
T |
10: 36,876,370 (GRCm39) |
K462* |
probably null |
Het |
Huwe1 |
T |
A |
X: 150,710,622 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,997,611 (GRCm39) |
N262K |
probably benign |
Het |
Kat6b |
A |
G |
14: 21,719,826 (GRCm39) |
S1502G |
probably damaging |
Het |
Mapkapk3 |
A |
T |
9: 107,134,279 (GRCm39) |
D328E |
probably benign |
Het |
Naca |
C |
T |
10: 127,877,437 (GRCm39) |
|
probably benign |
Het |
Npffr1 |
T |
C |
10: 61,449,918 (GRCm39) |
V64A |
probably damaging |
Het |
Oga |
A |
G |
19: 45,750,682 (GRCm39) |
F671S |
probably damaging |
Het |
Or2t49 |
A |
G |
11: 58,393,211 (GRCm39) |
L57P |
probably damaging |
Het |
Or8b3b |
T |
A |
9: 38,584,564 (GRCm39) |
M72L |
probably damaging |
Het |
Pcca |
A |
G |
14: 123,126,945 (GRCm39) |
D718G |
probably damaging |
Het |
Pde6a |
A |
C |
18: 61,397,326 (GRCm39) |
D670A |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,320,417 (GRCm39) |
E292V |
probably benign |
Het |
Prmt9 |
A |
C |
8: 78,291,698 (GRCm39) |
M357L |
probably benign |
Het |
Ptgfr |
A |
T |
3: 151,540,963 (GRCm39) |
S182T |
probably benign |
Het |
Rtraf |
A |
T |
14: 19,866,260 (GRCm39) |
M152K |
possibly damaging |
Het |
Satb1 |
T |
C |
17: 52,049,717 (GRCm39) |
D579G |
possibly damaging |
Het |
Serpinb6a |
A |
G |
13: 34,115,453 (GRCm39) |
|
probably null |
Het |
Slc5a9 |
T |
C |
4: 111,747,497 (GRCm39) |
I297V |
possibly damaging |
Het |
Slf1 |
T |
A |
13: 77,195,223 (GRCm39) |
|
probably benign |
Het |
Tas2r114 |
T |
C |
6: 131,666,243 (GRCm39) |
M262V |
probably benign |
Het |
Tmem147 |
A |
G |
7: 30,428,847 (GRCm39) |
|
probably benign |
Het |
Tmem220 |
A |
G |
11: 66,924,933 (GRCm39) |
|
probably null |
Het |
Uspl1 |
A |
G |
5: 149,125,156 (GRCm39) |
N35S |
possibly damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
Het |
Vmn2r121 |
T |
G |
X: 123,037,591 (GRCm39) |
I810L |
probably damaging |
Het |
Wbp2nl |
A |
T |
15: 82,189,945 (GRCm39) |
T46S |
possibly damaging |
Het |
Zfp955b |
T |
A |
17: 33,519,940 (GRCm39) |
M57K |
probably benign |
Het |
|
Other mutations in St8sia2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02161:St8sia2
|
APN |
7 |
73,626,430 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02261:St8sia2
|
APN |
7 |
73,616,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02941:St8sia2
|
APN |
7 |
73,626,397 (GRCm39) |
intron |
probably benign |
|
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 |
2015-12-18 |