Incidental Mutation 'R3789:St3gal6'
| ID |
272456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St3gal6
|
| Ensembl Gene |
ENSMUSG00000022747 |
| Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 6 |
| Synonyms |
ST3Gal VI, 1700023B24Rik, Siat10 |
| MMRRC Submission |
041604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R3789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58290105-58344614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58305136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 109
(E109K)
|
| 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: E109K
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: E109K
| 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: E109K
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: E109K
| 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: E109K
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: E109K
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
| Acvrl1 |
C |
T |
15: 101,035,350 (GRCm39) |
T292M |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,870,588 (GRCm39) |
S688P |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,544 (GRCm39) |
I312N |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,680,717 (GRCm39) |
G20V |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,547,005 (GRCm39) |
V2276L |
possibly damaging |
Het |
| Cstdc2 |
C |
A |
2: 148,689,878 (GRCm39) |
E92* |
probably null |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
A |
14: 67,476,942 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,384,869 (GRCm39) |
T195A |
probably benign |
Het |
| Frs3 |
G |
A |
17: 48,010,621 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,813,058 (GRCm39) |
S640P |
probably damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,955,613 (GRCm39) |
S1310P |
probably damaging |
Het |
| Hltf |
C |
T |
3: 20,123,211 (GRCm39) |
P200S |
probably damaging |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,407,838 (GRCm39) |
D1817G |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,956 (GRCm39) |
I253V |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,492,113 (GRCm39) |
R403W |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,156 (GRCm39) |
D127E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,730,464 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
C |
7: 115,774,969 (GRCm39) |
I175R |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Rexo2 |
A |
G |
9: 48,384,362 (GRCm39) |
I139T |
probably damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,101,106 (GRCm39) |
S811R |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,276 (GRCm39) |
D345G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,825,844 (GRCm39) |
E539G |
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,387,150 (GRCm39) |
T212A |
possibly damaging |
Het |
| Spa17 |
T |
G |
9: 37,523,141 (GRCm39) |
K49Q |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,050,955 (GRCm39) |
N5D |
probably benign |
Het |
| Tmem232 |
C |
T |
17: 65,689,520 (GRCm39) |
D532N |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
| Tmem81 |
A |
G |
1: 132,435,809 (GRCm39) |
N205S |
probably benign |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,348 (GRCm39) |
N567I |
probably damaging |
Het |
|
| Other mutations in St3gal6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:St3gal6
|
APN |
16 |
58,305,138 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAATCTCTGAGCCAGCCAGTG -3'
(R):5'- CTACTGATTAACTCCAGTGTGGC -3'
Sequencing Primer
(F):5'- AGTGCTGCAGCTCCTAAGTC -3'
(R):5'- ACTCCAGTGTGGCAATAGTAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation