Incidental Mutation 'IGL02261:St8sia2'
| ID |
286770 |
| 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: 0.108)
|
| Stock # |
IGL02261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
73588867-73663408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73616594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 127
(P127H)
|
| 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: P148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: P148H
| 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: P127H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141307
Gene: ENSMUSG00000025789
AA Change: P127H
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,422,756 (GRCm39) |
T542S |
probably damaging |
Het |
| Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
| Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
| Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
| Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,472,591 (GRCm39) |
T209A |
possibly damaging |
Het |
| Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
| Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
| Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
| Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
| Mynn |
A |
T |
3: 30,661,280 (GRCm39) |
I121F |
possibly damaging |
Het |
| Ndrg2 |
G |
A |
14: 52,148,566 (GRCm39) |
R32C |
probably damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,291,756 (GRCm39) |
S652G |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,723 (GRCm39) |
D297E |
possibly damaging |
Het |
| Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
| Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
| Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
probably damaging |
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 |
|
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