Incidental Mutation 'R2434:St3gal6'
| ID |
250539 |
| 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 |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58290105-58344614 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58291015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 329
(T329A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046663]
[ENSMUST00000114357]
[ENSMUST00000114358]
[ENSMUST00000137035]
|
| AlphaFold |
Q8VIB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046663
|
| SMART Domains |
Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
34 |
N/A |
INTRINSIC |
|
CUB
|
69 |
184 |
4.26e-37 |
SMART |
|
LCCL
|
188 |
273 |
4.74e-37 |
SMART |
|
FA58C
|
288 |
446 |
4.08e-28 |
SMART |
|
transmembrane domain
|
522 |
544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114357
AA Change: T329A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747
AA Change: T329A
| 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 damaging
Transcript: ENSMUST00000114358
AA Change: T329A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747
AA Change: T329A
| 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 |
noncoding transcript
Transcript: ENSMUST00000130409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135415
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137035
AA Change: T329A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747
AA Change: T329A
| 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: ENSMUST00000150817
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAACTTTAGCCGGTGG -3'
(R):5'- TCACTCTCGAACAGAAAAGGGC -3'
Sequencing Primer
(F):5'- TTAGCCGGTGGTTACAAGTCACC -3'
(R):5'- CTAACTTCTGAGCTTACGATGGGTAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation