Incidental Mutation 'IGL01518:St3gal6'
| ID |
89379 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St3gal6
|
| Ensembl Gene |
ENSMUSG00000022747 |
| Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 6 |
| Synonyms |
ST3Gal VI, 1700023B24Rik, Siat10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
IGL01518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
58290105-58344614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58305138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 108
(D108V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114357]
[ENSMUST00000114358]
[ENSMUST00000126978]
[ENSMUST00000137035]
[ENSMUST00000149456]
|
| AlphaFold |
Q8VIB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114357
AA Change: D108V
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: D108V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
63 |
329 |
6.2e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114358
AA Change: D108V
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: D108V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
71 |
329 |
7.1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135721
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137035
AA Change: D108V
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: D108V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
63 |
329 |
6.2e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149456
|
| Coding Region Coverage |
|
| 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 member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit modest impairment in leukocyte rolling and neutrophil recruitment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
| Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
| Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
| Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
| Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
| Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
| Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
| Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
Het |
|
| Other mutations in St3gal6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:St3gal6
|
APN |
16 |
58,314,033 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02512:St3gal6
|
APN |
16 |
58,293,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0212:St3gal6
|
UTSW |
16 |
58,293,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:St3gal6
|
UTSW |
16 |
58,293,816 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0441:St3gal6
|
UTSW |
16 |
58,293,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:St3gal6
|
UTSW |
16 |
58,293,816 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0442:St3gal6
|
UTSW |
16 |
58,293,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0442:St3gal6
|
UTSW |
16 |
58,293,816 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1786:St3gal6
|
UTSW |
16 |
58,296,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:St3gal6
|
UTSW |
16 |
58,293,924 (GRCm39) |
splice site |
probably null |
|
|
R2233:St3gal6
|
UTSW |
16 |
58,293,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:St3gal6
|
UTSW |
16 |
58,309,332 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2336:St3gal6
|
UTSW |
16 |
58,314,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2434:St3gal6
|
UTSW |
16 |
58,291,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:St3gal6
|
UTSW |
16 |
58,305,136 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6318:St3gal6
|
UTSW |
16 |
58,306,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7320:St3gal6
|
UTSW |
16 |
58,314,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7599:St3gal6
|
UTSW |
16 |
58,293,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8907:St3gal6
|
UTSW |
16 |
58,314,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9100:St3gal6
|
UTSW |
16 |
58,306,793 (GRCm39) |
missense |
|
|
|
R9593:St3gal6
|
UTSW |
16 |
58,305,136 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation