Incidental Mutation 'IGL02339:St3gal3'
ID |
289007 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
St3gal3
|
Ensembl Gene |
ENSMUSG00000028538 |
Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
Synonyms |
Siat6, Siat3, ST3Gal III |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02339
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
117789351-117992111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117815759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 148
(T148A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030263]
[ENSMUST00000097912]
[ENSMUST00000106410]
[ENSMUST00000126336]
|
AlphaFold |
P97325 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030263
AA Change: T203A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030263 Gene: ENSMUSG00000028538 AA Change: T203A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
low complexity region
|
37 |
47 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
102 |
373 |
5.7e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097912
AA Change: T187A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095525 Gene: ENSMUSG00000028538 AA Change: T187A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
86 |
357 |
5.4e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106410
AA Change: T203A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102018 Gene: ENSMUSG00000028538 AA Change: T203A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
low complexity region
|
37 |
47 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
106 |
372 |
4.7e-63 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126336
AA Change: T97A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121051 Gene: ENSMUSG00000028538 AA Change: T97A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_29
|
1 |
159 |
4.9e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138274
AA Change: T148A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114444 Gene: ENSMUSG00000028538 AA Change: T148A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_29
|
52 |
264 |
4.8e-38 |
PFAM |
|
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 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 apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] PHENOTYPE: Mice homozygous for disruptions in this gene show an apparently normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
C |
A |
6: 23,093,965 (GRCm39) |
V119F |
probably damaging |
Het |
Abcg5 |
T |
C |
17: 84,981,032 (GRCm39) |
I186V |
possibly damaging |
Het |
B4gat1 |
G |
A |
19: 5,089,446 (GRCm39) |
E148K |
probably benign |
Het |
Ccr6 |
A |
T |
17: 8,475,085 (GRCm39) |
T97S |
probably benign |
Het |
Cd209f |
A |
C |
8: 4,154,483 (GRCm39) |
|
probably null |
Het |
Chst1 |
T |
A |
2: 92,443,922 (GRCm39) |
D131E |
possibly damaging |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnaaf9 |
A |
G |
2: 130,581,385 (GRCm39) |
S546P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,078,881 (GRCm39) |
Y2361H |
probably benign |
Het |
Dpp6 |
C |
T |
5: 27,857,228 (GRCm39) |
T333I |
probably damaging |
Het |
Glt8d1 |
C |
A |
14: 30,730,767 (GRCm39) |
T91K |
probably damaging |
Het |
Gm4952 |
G |
A |
19: 12,604,275 (GRCm39) |
R229Q |
probably damaging |
Het |
Gm5117 |
T |
C |
8: 32,228,254 (GRCm39) |
|
noncoding transcript |
Het |
Gp5 |
T |
C |
16: 30,128,008 (GRCm39) |
E222G |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,771,470 (GRCm39) |
D1077E |
probably benign |
Het |
Hfe |
T |
C |
13: 23,888,373 (GRCm39) |
E171G |
probably damaging |
Het |
Hsp90b1 |
A |
G |
10: 86,537,678 (GRCm39) |
V209A |
probably damaging |
Het |
Ktn1 |
A |
T |
14: 47,920,835 (GRCm39) |
|
probably benign |
Het |
Med13 |
T |
C |
11: 86,179,765 (GRCm39) |
I1394M |
probably benign |
Het |
Meioc |
T |
G |
11: 102,559,274 (GRCm39) |
S65R |
probably benign |
Het |
Myof |
T |
C |
19: 37,960,661 (GRCm39) |
Y460C |
possibly damaging |
Het |
Or4f53 |
A |
T |
2: 111,087,588 (GRCm39) |
T43S |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,314,324 (GRCm39) |
Y74H |
possibly damaging |
Het |
Ptprn2 |
A |
C |
12: 116,685,724 (GRCm39) |
Q61P |
probably damaging |
Het |
Rab29 |
A |
G |
1: 131,799,880 (GRCm39) |
T152A |
probably benign |
Het |
Rest |
A |
G |
5: 77,423,135 (GRCm39) |
H313R |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,085,091 (GRCm39) |
Y531H |
probably damaging |
Het |
Stxbp5 |
C |
T |
10: 9,692,041 (GRCm39) |
V368I |
possibly damaging |
Het |
Taf1c |
T |
C |
8: 120,331,019 (GRCm39) |
D33G |
probably damaging |
Het |
Trim38 |
G |
A |
13: 23,972,213 (GRCm39) |
R178Q |
probably damaging |
Het |
Uvssa |
A |
T |
5: 33,572,193 (GRCm39) |
K704N |
probably damaging |
Het |
Vmn1r69 |
G |
A |
7: 10,314,645 (GRCm39) |
Q29* |
probably null |
Het |
Ypel2 |
T |
C |
11: 86,831,429 (GRCm39) |
D119G |
possibly damaging |
Het |
|
Other mutations in St3gal3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01933:St3gal3
|
APN |
4 |
117,889,072 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02004:St3gal3
|
APN |
4 |
117,817,236 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03186:St3gal3
|
APN |
4 |
117,797,251 (GRCm39) |
missense |
possibly damaging |
0.93 |
giovanni
|
UTSW |
4 |
117,817,204 (GRCm39) |
missense |
possibly damaging |
0.84 |
Leporello
|
UTSW |
4 |
117,814,633 (GRCm39) |
missense |
|
|
R0598:St3gal3
|
UTSW |
4 |
117,964,829 (GRCm39) |
missense |
probably benign |
0.38 |
R1466:St3gal3
|
UTSW |
4 |
117,964,859 (GRCm39) |
start codon destroyed |
probably null |
|
R1466:St3gal3
|
UTSW |
4 |
117,964,859 (GRCm39) |
start codon destroyed |
probably null |
|
R1474:St3gal3
|
UTSW |
4 |
117,871,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:St3gal3
|
UTSW |
4 |
117,964,859 (GRCm39) |
start codon destroyed |
probably null |
|
R1585:St3gal3
|
UTSW |
4 |
117,817,204 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1696:St3gal3
|
UTSW |
4 |
117,797,589 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1735:St3gal3
|
UTSW |
4 |
117,871,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:St3gal3
|
UTSW |
4 |
117,797,268 (GRCm39) |
missense |
probably damaging |
0.96 |
R4008:St3gal3
|
UTSW |
4 |
117,797,637 (GRCm39) |
missense |
probably benign |
0.34 |
R4700:St3gal3
|
UTSW |
4 |
117,817,232 (GRCm39) |
missense |
probably benign |
0.01 |
R5434:St3gal3
|
UTSW |
4 |
117,797,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:St3gal3
|
UTSW |
4 |
117,964,875 (GRCm39) |
start gained |
probably benign |
|
R6854:St3gal3
|
UTSW |
4 |
117,815,727 (GRCm39) |
missense |
probably benign |
0.00 |
R7218:St3gal3
|
UTSW |
4 |
117,814,639 (GRCm39) |
missense |
|
|
R7304:St3gal3
|
UTSW |
4 |
117,814,633 (GRCm39) |
missense |
|
|
R7569:St3gal3
|
UTSW |
4 |
117,821,553 (GRCm39) |
missense |
probably benign |
0.09 |
R7783:St3gal3
|
UTSW |
4 |
117,797,320 (GRCm39) |
missense |
probably benign |
0.07 |
R8202:St3gal3
|
UTSW |
4 |
117,964,868 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2015-04-16 |