Incidental Mutation 'R2923:St8sia1'
| ID |
255621 |
| 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 |
040508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2923 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142767271-142910178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142774963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 205
(F205L)
|
| 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: F205L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032421
Gene: ENSMUSG00000030283
AA Change: F205L
| 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 |
|
| Meta Mutation Damage Score |
0.1661 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,467,518 (GRCm39) |
C368S |
probably damaging |
Het |
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,832,010 (GRCm39) |
Y500C |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,612,079 (GRCm39) |
T418S |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,547 (GRCm39) |
P971S |
possibly damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
| Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,493,473 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
G |
A |
2: 104,085,660 (GRCm39) |
T164I |
possibly damaging |
Het |
| Dhx40 |
T |
G |
11: 86,680,089 (GRCm39) |
Q416P |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,984,373 (GRCm39) |
F1636S |
probably damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
| Gm10604 |
C |
T |
4: 11,980,122 (GRCm39) |
A61T |
unknown |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Grm6 |
G |
C |
11: 50,755,348 (GRCm39) |
G827R |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
| Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Ipo9 |
G |
T |
1: 135,327,867 (GRCm39) |
Q515K |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,779,414 (GRCm39) |
S155P |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
| Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
| Pnpla2 |
T |
A |
7: 141,035,380 (GRCm39) |
C61S |
probably benign |
Het |
| Ppp1r16b |
G |
T |
2: 158,598,877 (GRCm39) |
L312F |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Serpinb5 |
G |
A |
1: 106,803,770 (GRCm39) |
S152N |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Stab2 |
A |
G |
10: 86,697,325 (GRCm39) |
Y1988H |
probably damaging |
Het |
| Susd3 |
A |
T |
13: 49,401,945 (GRCm39) |
M1K |
probably null |
Het |
| Syne3 |
A |
T |
12: 104,934,343 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Ttll1 |
T |
C |
15: 83,376,760 (GRCm39) |
K321R |
probably damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,077 (GRCm39) |
I390V |
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 |
|
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'- CCAGAACTTTCCAATGTTCCG -3'
(R):5'- GAGCTTCATTGAGGAATGTTGACG -3'
Sequencing Primer
(F):5'- TTCCAATGTTCCGAAGAAAGTTGGG -3'
(R):5'- CATTGAGGAATGTTGACGAGTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation