Incidental Mutation 'R6854:St3gal3'
ID |
535138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St3gal3
|
Ensembl Gene |
ENSMUSG00000028538 |
Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
Synonyms |
Siat6, Siat3, ST3Gal III |
MMRRC Submission |
044957-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6854 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
117789351-117992111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 117815727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 107
(M107I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030263]
[ENSMUST00000097912]
[ENSMUST00000106410]
[ENSMUST00000126336]
|
AlphaFold |
P97325 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030263
AA Change: M213I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000030263 Gene: ENSMUSG00000028538 AA Change: M213I
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 benign
Transcript: ENSMUST00000097912
AA Change: M197I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095525 Gene: ENSMUSG00000028538 AA Change: M197I
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 benign
Transcript: ENSMUST00000106410
AA Change: M213I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102018 Gene: ENSMUSG00000028538 AA Change: M213I
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 benign
Transcript: ENSMUST00000126336
AA Change: M107I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000121051 Gene: ENSMUSG00000028538 AA Change: M107I
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_29
|
1 |
159 |
4.9e-44 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000114444 Gene: ENSMUSG00000028538 AA Change: M158I
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_29
|
52 |
264 |
4.8e-38 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (44/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
Flrt3 |
C |
T |
2: 140,502,638 (GRCm39) |
R330H |
probably damaging |
Het |
Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
Klrb1c |
A |
G |
6: 128,765,381 (GRCm39) |
S70P |
possibly damaging |
Het |
Maml2 |
C |
T |
9: 13,617,131 (GRCm39) |
T159I |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
Sema4f |
A |
G |
6: 82,894,983 (GRCm39) |
L404P |
probably damaging |
Het |
Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
Tmem25 |
T |
C |
9: 44,707,305 (GRCm39) |
K265E |
possibly damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Vsig10 |
G |
A |
5: 117,476,472 (GRCm39) |
V309I |
probably benign |
Het |
Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (GRCm39) |
|
probably benign |
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 |
IGL02339:St3gal3
|
APN |
4 |
117,815,759 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCACCCTGATATTGTCTGGC -3'
(R):5'- GGTCGGCAGGTTTTAAAACAAAC -3'
Sequencing Primer
(F):5'- TGTGGGATCTGATGCAGAGACTAC -3'
(R):5'- CAAGGAGGTGGCCTGGATTC -3'
|
Posted On |
2018-09-12 |