Incidental Mutation 'R6713:St8sia1'
| ID |
529208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia1
|
| Ensembl Gene |
ENSMUSG00000030283 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 |
| Synonyms |
GD3S, GD3 synthase, Siat8, ST8Sia I, alpha-2,8-sialyltransferase, Siat8a, 9330109E03Rik |
| MMRRC Submission |
044831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142767271-142910178 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 142775008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032421]
[ENSMUST00000205149]
|
| AlphaFold |
Q64687 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032421
|
| SMART Domains |
Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
90 |
344 |
8.1e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205149
|
| SMART Domains |
Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
95 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a targeted allele are behaviorally normal with no signs of aberrant brain histology or demyelination. Homozygotes for a knock-out allele are behaviorally intact with normal nervous tissue morphology and sensitivity to Fas-mediated apoptosis but show impaired repair of damaged nerves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
| Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
| Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,847,432 (GRCm39) |
M484K |
probably benign |
Het |
| Glb1l |
A |
T |
1: 75,179,061 (GRCm39) |
H253Q |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
| Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
| Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
| Lins1 |
A |
G |
7: 66,358,230 (GRCm39) |
T122A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
| Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nags |
C |
A |
11: 102,037,347 (GRCm39) |
A146E |
probably benign |
Het |
| Nkain4 |
C |
T |
2: 180,585,970 (GRCm39) |
G31D |
probably damaging |
Het |
| Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
| Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
| Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
| Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
| Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
| Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
| Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp619 |
G |
T |
7: 39,187,322 (GRCm39) |
K1117N |
probably damaging |
Het |
|
| Other mutations in St8sia1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02081:St8sia1
|
APN |
6 |
142,774,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02138:St8sia1
|
APN |
6 |
142,909,504 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02419:St8sia1
|
APN |
6 |
142,774,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03407:St8sia1
|
APN |
6 |
142,859,775 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
PIT4453001:St8sia1
|
UTSW |
6 |
142,774,978 (GRCm39) |
nonsense |
probably null |
|
|
PIT4498001:St8sia1
|
UTSW |
6 |
142,859,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0167:St8sia1
|
UTSW |
6 |
142,859,907 (GRCm39) |
splice site |
probably benign |
|
|
R0690:St8sia1
|
UTSW |
6 |
142,774,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:St8sia1
|
UTSW |
6 |
142,822,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1743:St8sia1
|
UTSW |
6 |
142,774,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:St8sia1
|
UTSW |
6 |
142,909,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2923:St8sia1
|
UTSW |
6 |
142,774,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2983:St8sia1
|
UTSW |
6 |
142,909,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3824:St8sia1
|
UTSW |
6 |
142,774,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:St8sia1
|
UTSW |
6 |
142,813,649 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4844:St8sia1
|
UTSW |
6 |
142,774,996 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4865:St8sia1
|
UTSW |
6 |
142,774,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:St8sia1
|
UTSW |
6 |
142,859,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5170:St8sia1
|
UTSW |
6 |
142,909,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5519:St8sia1
|
UTSW |
6 |
142,909,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5783:St8sia1
|
UTSW |
6 |
142,909,340 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7017:St8sia1
|
UTSW |
6 |
142,813,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7144:St8sia1
|
UTSW |
6 |
142,822,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7997:St8sia1
|
UTSW |
6 |
142,909,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:St8sia1
|
UTSW |
6 |
142,774,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:St8sia1
|
UTSW |
6 |
142,774,536 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAACTTTCCAATGTTCCG -3'
(R):5'- TTCATTGAGGAATGTTGACGAGTTC -3'
Sequencing Primer
(F):5'- TTCCAATGTTCCGAAGAAAGTTGGG -3'
(R):5'- ATGTTGACGAGTTCAAGGTAGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation