Incidental Mutation 'R4106:St8sia2'
| ID |
321389 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
73588867-73663408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 73610509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 258
(L258R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026896]
[ENSMUST00000191970]
|
| AlphaFold |
O35696 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026896
AA Change: L258R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026896
Gene: ENSMUSG00000025789
AA Change: L258R
| 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 |
noncoding transcript
Transcript: ENSMUST00000191751
|
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,310,324 (GRCm39) |
I1461V |
possibly damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,261,579 (GRCm39) |
V107G |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,873,459 (GRCm39) |
D397G |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,505,019 (GRCm39) |
T183A |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,177,318 (GRCm39) |
V92A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,328,370 (GRCm39) |
S38P |
possibly damaging |
Het |
| Mapkapk3 |
A |
G |
9: 107,134,265 (GRCm39) |
V333A |
probably damaging |
Het |
| Muc5ac |
T |
G |
7: 141,356,572 (GRCm39) |
V1053G |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
| Nnt |
T |
C |
13: 119,533,327 (GRCm39) |
I113V |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d38 |
A |
T |
2: 87,954,817 (GRCm39) |
C171S |
possibly damaging |
Het |
| Rpl10a |
T |
A |
17: 28,549,933 (GRCm39) |
Y205N |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
| Sertad4 |
AGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGA |
1: 192,529,050 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,219,047 (GRCm39) |
K97E |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,874 (GRCm39) |
Q72R |
probably benign |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,861,673 (GRCm39) |
V352A |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,040,617 (GRCm39) |
Y293H |
possibly damaging |
Het |
| Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCGGATGATACCCATTTGC -3'
(R):5'- GACCTAGTGACCATGAACCC -3'
Sequencing Primer
(F):5'- GGATGATACCCATTTGCCAATC -3'
(R):5'- TAGTGACCATGAACCCCTCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation