Incidental Mutation 'IGL02004:St3gal3'
| ID |
182207 |
| 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 # |
IGL02004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117789351-117992111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117817236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 139
(L139F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030263]
[ENSMUST00000097912]
[ENSMUST00000106410]
[ENSMUST00000126336]
|
| AlphaFold |
P97325 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030263
AA Change: L139F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538
AA Change: L139F
| 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 |
possibly damaging
Transcript: ENSMUST00000097912
AA Change: L123F
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538
AA Change: L123F
| 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 |
possibly damaging
Transcript: ENSMUST00000106410
AA Change: L139F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538
AA Change: L139F
| 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 |
possibly damaging
Transcript: ENSMUST00000126336
AA Change: L33F
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121051
Gene: ENSMUSG00000028538
AA Change: L33F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
1 |
159 |
4.9e-44 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138274
AA Change: L84F
|
| SMART Domains |
Protein: ENSMUSP00000114444
Gene: ENSMUSG00000028538
AA Change: L84F
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
| Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
| Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
| Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
| Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
| St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation