Incidental Mutation 'R4464:St3gal2'
ID |
330273 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St3gal2
|
Ensembl Gene |
ENSMUSG00000031749 |
Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 2 |
Synonyms |
Siat5, ST3GalII |
MMRRC Submission |
041722-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4464 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
111646554-111699112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111694134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 207
(N207D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034197]
[ENSMUST00000117534]
|
AlphaFold |
Q11204 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034197
AA Change: N207D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034197 Gene: ENSMUSG00000031749 AA Change: N207D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
94 |
349 |
3.8e-80 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117534
AA Change: N207D
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000113900 Gene: ENSMUSG00000031749 AA Change: N207D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
90 |
296 |
7.2e-82 |
PFAM |
|
Meta Mutation Damage Score |
0.0734 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (35/36) |
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 type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene apparently display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
Het |
|
Other mutations in St3gal2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00694:St3gal2
|
APN |
8 |
111,696,213 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02004:St3gal2
|
APN |
8 |
111,696,804 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02270:St3gal2
|
APN |
8 |
111,684,398 (GRCm39) |
missense |
probably benign |
|
R0546:St3gal2
|
UTSW |
8 |
111,696,738 (GRCm39) |
splice site |
probably null |
|
R3695:St3gal2
|
UTSW |
8 |
111,688,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4297:St3gal2
|
UTSW |
8 |
111,688,991 (GRCm39) |
missense |
probably benign |
0.00 |
R4298:St3gal2
|
UTSW |
8 |
111,688,991 (GRCm39) |
missense |
probably benign |
0.00 |
R4299:St3gal2
|
UTSW |
8 |
111,688,991 (GRCm39) |
missense |
probably benign |
0.00 |
R4691:St3gal2
|
UTSW |
8 |
111,684,417 (GRCm39) |
missense |
probably benign |
0.13 |
R4831:St3gal2
|
UTSW |
8 |
111,684,480 (GRCm39) |
missense |
probably benign |
0.17 |
R5072:St3gal2
|
UTSW |
8 |
111,684,350 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5992:St3gal2
|
UTSW |
8 |
111,696,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:St3gal2
|
UTSW |
8 |
111,688,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGAGTGCCAAATTATCCTG -3'
(R):5'- GGGAAGTGACATAGAATCAACTCC -3'
Sequencing Primer
(F):5'- GAGTGCCAAATTATCCTGTAAAACC -3'
(R):5'- AGAATCAACTCCATTTTTGAGCTCC -3'
|
Posted On |
2015-07-21 |