Incidental Mutation 'R3120:St6gal2'
| ID |
263199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St6gal2
|
| Ensembl Gene |
ENSMUSG00000024172 |
| Gene Name |
beta galactoside alpha 2,6 sialyltransferase 2 |
| Synonyms |
ST6Gal II, C230064G14Rik |
| MMRRC Submission |
040593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3120 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
55752383-55821582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55789111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 48
(R48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025000]
[ENSMUST00000086878]
[ENSMUST00000133899]
|
| AlphaFold |
Q76K27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025000
AA Change: R48S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025000
Gene: ENSMUSG00000024172
AA Change: R48S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
257 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
272 |
501 |
3.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086878
AA Change: R48S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084091
Gene: ENSMUSG00000024172
AA Change: R48S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
234 |
438 |
9.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133899
AA Change: R48S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120762
Gene: ENSMUSG00000024172
AA Change: R48S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
207 |
316 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153220
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsx |
A |
G |
9: 40,788,908 (GRCm39) |
K155R |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,891,987 (GRCm39) |
K162E |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 30,988,779 (GRCm39) |
R3351* |
probably null |
Het |
| Eml1 |
A |
G |
12: 108,479,312 (GRCm39) |
R362G |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,044,742 (GRCm39) |
L101P |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,430,400 (GRCm39) |
E276G |
probably damaging |
Het |
| Gatad1 |
G |
T |
5: 3,691,456 (GRCm39) |
Y33* |
probably null |
Het |
| Gclc |
A |
C |
9: 77,688,552 (GRCm39) |
E219A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,319,117 (GRCm39) |
V207A |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,215 (GRCm39) |
S170R |
probably benign |
Het |
| Hbq1a |
T |
C |
11: 32,250,472 (GRCm39) |
L87P |
probably damaging |
Het |
| Magea6 |
A |
T |
X: 153,707,291 (GRCm39) |
I255N |
probably benign |
Het |
| Mfsd12 |
T |
G |
10: 81,197,049 (GRCm39) |
V206G |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,203,762 (GRCm39) |
|
probably null |
Het |
| Nf1 |
C |
A |
11: 79,455,725 (GRCm39) |
T550K |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,342,530 (GRCm39) |
T372A |
probably benign |
Het |
| Or5p70 |
T |
C |
7: 107,994,930 (GRCm39) |
I201T |
possibly damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,466 (GRCm39) |
Y215H |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,537,367 (GRCm39) |
T253A |
probably benign |
Het |
| Polr2f |
T |
A |
15: 79,028,788 (GRCm39) |
|
probably null |
Het |
| Prph2 |
C |
T |
17: 47,234,298 (GRCm39) |
A289V |
possibly damaging |
Het |
| Ptdss2 |
C |
T |
7: 140,732,132 (GRCm39) |
H140Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,006,680 (GRCm39) |
I877L |
probably benign |
Het |
| Scgb2b2 |
T |
C |
7: 31,003,001 (GRCm39) |
L32S |
possibly damaging |
Het |
| Sfpq |
T |
A |
4: 126,915,926 (GRCm39) |
H239Q |
unknown |
Het |
| Sybu |
T |
C |
15: 44,536,355 (GRCm39) |
D657G |
possibly damaging |
Het |
| Syt15 |
A |
G |
14: 33,944,950 (GRCm39) |
I166V |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,478 (GRCm39) |
T24K |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,499,474 (GRCm39) |
S1093P |
probably damaging |
Het |
| Tfap2c |
G |
A |
2: 172,399,015 (GRCm39) |
V396M |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,911,329 (GRCm39) |
T1544I |
possibly damaging |
Het |
| Trim28 |
A |
G |
7: 12,762,341 (GRCm39) |
T322A |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,707,626 (GRCm39) |
A121V |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,372,431 (GRCm39) |
W20R |
probably null |
Het |
| Zfp551 |
A |
G |
7: 12,149,943 (GRCm39) |
F489L |
possibly damaging |
Het |
|
| Other mutations in St6gal2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02689:St6gal2
|
APN |
17 |
55,789,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:St6gal2
|
UTSW |
17 |
55,789,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0652:St6gal2
|
UTSW |
17 |
55,805,290 (GRCm39) |
missense |
probably benign |
|
|
R1456:St6gal2
|
UTSW |
17 |
55,797,932 (GRCm39) |
splice site |
probably benign |
|
|
R1470:St6gal2
|
UTSW |
17 |
55,797,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:St6gal2
|
UTSW |
17 |
55,797,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:St6gal2
|
UTSW |
17 |
55,803,396 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2092:St6gal2
|
UTSW |
17 |
55,817,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:St6gal2
|
UTSW |
17 |
55,789,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3928:St6gal2
|
UTSW |
17 |
55,803,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3929:St6gal2
|
UTSW |
17 |
55,803,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4512:St6gal2
|
UTSW |
17 |
55,790,018 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4513:St6gal2
|
UTSW |
17 |
55,790,018 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4514:St6gal2
|
UTSW |
17 |
55,790,018 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4564:St6gal2
|
UTSW |
17 |
55,789,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:St6gal2
|
UTSW |
17 |
55,803,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:St6gal2
|
UTSW |
17 |
55,817,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6034:St6gal2
|
UTSW |
17 |
55,789,982 (GRCm39) |
missense |
probably benign |
|
|
R6034:St6gal2
|
UTSW |
17 |
55,789,982 (GRCm39) |
missense |
probably benign |
|
|
R6356:St6gal2
|
UTSW |
17 |
55,789,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:St6gal2
|
UTSW |
17 |
55,789,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8221:St6gal2
|
UTSW |
17 |
55,797,935 (GRCm39) |
splice site |
probably null |
|
|
Z1177:St6gal2
|
UTSW |
17 |
55,789,898 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCTGGCCCCAAAGATC -3'
(R):5'- GATAGAAAGCGCTTTGTGATTTCC -3'
Sequencing Primer
(F):5'- TGGCCCCAAAGATCTGCAATG -3'
(R):5'- CCCATTGTCAAAGCCATTTGGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation