Incidental Mutation 'R2983:St8sia1'
| ID |
257119 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2983 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142767271-142910178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142909355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 47
(V47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032421]
[ENSMUST00000205149]
|
| AlphaFold |
Q64687 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032421
AA Change: V47A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: V47A
| 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 |
probably damaging
Transcript: ENSMUST00000205149
AA Change: V47A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145148
Gene: ENSMUSG00000030283
AA Change: V47A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
95 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,784 (GRCm39) |
D347G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,867,774 (GRCm39) |
K124E |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,975,241 (GRCm39) |
V1607A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,882,250 (GRCm38) |
V317E |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Kmt2c |
AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTG |
5: 25,520,755 (GRCm39) |
|
probably benign |
Het |
| Ncs1 |
C |
T |
2: 31,174,708 (GRCm39) |
T144I |
probably damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or5k16 |
T |
A |
16: 58,736,930 (GRCm39) |
T25S |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,824,574 (GRCm39) |
S503T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,321,435 (GRCm39) |
S552L |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,789 (GRCm39) |
V1044A |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,792,927 (GRCm39) |
H60R |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,970,276 (GRCm39) |
Q114* |
probably null |
Het |
| Speg |
T |
C |
1: 75,361,574 (GRCm39) |
V90A |
possibly damaging |
Het |
| Tex264 |
A |
G |
9: 106,559,296 (GRCm39) |
I10T |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,596 (GRCm39) |
T4I |
probably benign |
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 |
|
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 |
|
R6713:St8sia1
|
UTSW |
6 |
142,775,008 (GRCm39) |
splice site |
probably null |
|
|
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'- CCCTGACTTAAGTCTCTAGGTTG -3'
(R):5'- TGTGCTGAGGGTACACTGAC -3'
Sequencing Primer
(F):5'- ACTTAAGTCTCTAGGTTGGGCAC -3'
(R):5'- GTACACTGACCCTGGGACATC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation