Incidental Mutation 'R1419:St8sia2'
ID |
159988 |
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 |
MMRRC Submission |
039475-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
73588867-73663408 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 73616742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 78
(Q78*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026896]
[ENSMUST00000191970]
|
AlphaFold |
O35696 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026896
AA Change: Q99*
|
SMART Domains |
Protein: ENSMUSP00000026896 Gene: ENSMUSG00000025789 AA Change: Q99*
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 null
Transcript: ENSMUST00000191970
AA Change: Q78*
|
SMART Domains |
Protein: ENSMUSP00000141307 Gene: ENSMUSG00000025789 AA Change: Q78*
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: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
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 |
Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
Abtb2 |
G |
T |
2: 103,539,765 (GRCm39) |
R710L |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
Katnal2 |
A |
T |
18: 77,065,128 (GRCm39) |
L481Q |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
Klhl14 |
C |
A |
18: 21,785,250 (GRCm39) |
R59L |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
Or4a15 |
T |
C |
2: 89,193,666 (GRCm39) |
T36A |
probably damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
Snai2 |
C |
T |
16: 14,526,044 (GRCm39) |
H232Y |
possibly damaging |
Het |
Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,690 (GRCm39) |
N416S |
probably damaging |
Het |
Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTAGTGCCACAACCCTTGCTG -3'
(R):5'- GCTGTTTATGCAACACCAACCCATC -3'
Sequencing Primer
(F):5'- GACAAAGCTGTGTGTGTCAATCTC -3'
(R):5'- gattcatcaaagtagccaaattacag -3'
|
Posted On |
2014-03-14 |