Incidental Mutation 'R4008:St3gal3'
| ID |
311562 |
| 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 |
040946-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117789351-117992111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117797637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 252
(I252V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030263]
[ENSMUST00000097912]
[ENSMUST00000106410]
[ENSMUST00000126336]
|
| AlphaFold |
P97325 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030263
AA Change: I268V
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538
AA Change: I268V
| 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: I252V
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538
AA Change: I252V
| 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: I268V
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538
AA Change: I268V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121051
Gene: ENSMUSG00000028538
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
1 |
159 |
4.9e-44 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138274
AA Change: I241V
|
| SMART Domains |
Protein: ENSMUSP00000114444
Gene: ENSMUSG00000028538
AA Change: I241V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
52 |
264 |
4.8e-38 |
PFAM |
|
| Meta Mutation Damage Score |
0.0856 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (32/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Batf2 |
G |
A |
19: 6,221,378 (GRCm39) |
E63K |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Clvs2 |
G |
A |
10: 33,419,458 (GRCm39) |
H199Y |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| H2-K2 |
G |
A |
17: 34,218,525 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Larp7 |
T |
C |
3: 127,334,519 (GRCm39) |
D490G |
probably benign |
Het |
| Map9 |
T |
C |
3: 82,266,390 (GRCm39) |
Y12H |
probably damaging |
Het |
| Mn1 |
G |
T |
5: 111,568,035 (GRCm39) |
E668D |
probably benign |
Het |
| Mrps18c |
T |
C |
5: 100,950,982 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
T |
A |
2: 25,298,992 (GRCm39) |
Y237* |
probably null |
Het |
| Oprm1 |
A |
G |
10: 6,782,520 (GRCm39) |
M388V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,464 (GRCm39) |
L265P |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,717,898 (GRCm39) |
T279A |
possibly damaging |
Het |
| Rabep2 |
C |
A |
7: 126,044,546 (GRCm39) |
D547E |
probably damaging |
Het |
| Rbm34 |
T |
C |
8: 127,676,037 (GRCm39) |
K426R |
probably benign |
Het |
| Rgs14 |
T |
G |
13: 55,517,726 (GRCm39) |
L8V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,880,521 (GRCm39) |
H407R |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,456,928 (GRCm39) |
F603L |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,465 (GRCm39) |
S244P |
probably benign |
Het |
| Tars3 |
T |
A |
7: 65,327,876 (GRCm39) |
D528E |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,333,608 (GRCm39) |
T118A |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,268 (GRCm39) |
S402L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAAGATGGGCCTTCTTC -3'
(R):5'- TTGGTCACACGTCCCATGAC -3'
Sequencing Primer
(F):5'- TGGGCCTTCTTCCCCAGG -3'
(R):5'- ATGACCCCTGATCTGCCGAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation