Incidental Mutation 'PIT4498001:St8sia1'
| ID |
556064 |
| 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 # |
PIT4498001 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142767271-142910178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142859848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 94
(T94A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032421]
[ENSMUST00000205149]
|
| AlphaFold |
Q64687 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032421
AA Change: T94A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: T94A
| 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 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: 93.2%
- 3x: 91.0%
- 10x: 86.1%
- 20x: 75.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
T |
C |
19: 40,562,800 (GRCm39) |
N191S |
probably benign |
Het |
| Cacnb2 |
T |
A |
2: 14,879,630 (GRCm39) |
L84* |
probably null |
Het |
| Cdhr2 |
C |
T |
13: 54,866,052 (GRCm39) |
T284M |
possibly damaging |
Het |
| Defb45 |
T |
C |
2: 152,438,394 (GRCm39) |
|
probably benign |
Het |
| Dkk3 |
C |
T |
7: 111,718,679 (GRCm39) |
V236M |
probably benign |
Het |
| Dscc1 |
A |
T |
15: 54,945,711 (GRCm39) |
V328D |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,372,889 (GRCm39) |
Y938C |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,756,452 (GRCm39) |
F435I |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,908,323 (GRCm39) |
Y626C |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,440,170 (GRCm39) |
R1196G |
probably damaging |
Het |
| Gabrr1 |
C |
T |
4: 33,160,225 (GRCm39) |
S303F |
probably damaging |
Het |
| Ggt1 |
T |
C |
10: 75,414,689 (GRCm39) |
V169A |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm3182 |
T |
A |
14: 4,481,832 (GRCm38) |
C9S |
probably damaging |
Het |
| Gpr88 |
A |
C |
3: 116,046,264 (GRCm39) |
S16A |
unknown |
Het |
| Kalrn |
A |
T |
16: 33,851,952 (GRCm39) |
M2076K |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,412,768 (GRCm39) |
T371A |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,566,025 (GRCm39) |
I402T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,714 (GRCm39) |
D57G |
probably benign |
Het |
| Ncl |
T |
C |
1: 86,279,162 (GRCm39) |
T584A |
possibly damaging |
Het |
| Nfx1 |
A |
T |
4: 40,977,244 (GRCm39) |
Q306L |
probably benign |
Het |
| Ogdh |
A |
T |
11: 6,290,504 (GRCm39) |
D374V |
probably benign |
Het |
| Or5d39 |
T |
A |
2: 87,980,259 (GRCm39) |
T35S |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,925,211 (GRCm39) |
H697L |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,234,469 (GRCm39) |
C1425R |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,539,406 (GRCm39) |
E29G |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,013,882 (GRCm39) |
I1196N |
probably damaging |
Het |
| Ralyl |
A |
T |
3: 14,172,299 (GRCm39) |
D56V |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,119,446 (GRCm39) |
|
probably null |
Het |
| Slc25a19 |
T |
C |
11: 115,514,781 (GRCm39) |
I69V |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,956,269 (GRCm39) |
Y256* |
probably null |
Het |
| Smyd1 |
T |
C |
6: 71,196,272 (GRCm39) |
H372R |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,527,916 (GRCm39) |
M1391K |
possibly damaging |
Het |
| Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,331 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,597,295 (GRCm39) |
P19873S |
probably damaging |
Het |
| Vmn1r228 |
G |
T |
17: 20,996,772 (GRCm39) |
H249N |
probably benign |
Het |
| Vmn2r108 |
C |
T |
17: 20,683,279 (GRCm39) |
G642S |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,154,831 (GRCm39) |
S29P |
probably benign |
Het |
| Zan |
A |
G |
5: 137,415,298 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- CTTGCCTCAAAGCAGGAAAC -3'
(R):5'- ATCTGCTCTGTGGAGTCTGC -3'
Sequencing Primer
(F):5'- CCCAGTGGGCTAGCAGAG -3'
(R):5'- TCTGCAGAGTGAGCTGGCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation