Incidental Mutation 'R6474:St3gal1'
| ID |
516747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St3gal1
|
| Ensembl Gene |
ENSMUSG00000013846 |
| Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 1 |
| Synonyms |
Siat4a, CMP-N-acetylneuraminate: [beta-galactosidase alpha-2,3] sialytransferase, ST3GalI, Siat4 |
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66974724-67048575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66983195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 187
(V187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092640]
[ENSMUST00000229028]
[ENSMUST00000229213]
|
| AlphaFold |
P54751 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092640
AA Change: V187A
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: V187A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
80 |
336 |
1.7e-74 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229028
AA Change: V187A
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229213
AA Change: V187A
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230150
|
| Meta Mutation Damage Score |
0.4530 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| 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. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
| Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
Het |
|
| Other mutations in St3gal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01528:St3gal1
|
APN |
15 |
66,984,466 (GRCm39) |
missense |
probably benign |
0.03 |
|
Benelux
|
UTSW |
15 |
66,985,634 (GRCm39) |
nonsense |
probably null |
|
|
Lichtenstein
|
UTSW |
15 |
66,980,086 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Luxembourg
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Monaco
|
UTSW |
15 |
66,985,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Strasbourg
|
UTSW |
15 |
66,978,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0452:St3gal1
|
UTSW |
15 |
66,981,504 (GRCm39) |
splice site |
probably benign |
|
|
R0478:St3gal1
|
UTSW |
15 |
66,985,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:St3gal1
|
UTSW |
15 |
66,985,536 (GRCm39) |
missense |
probably benign |
|
|
R2357:St3gal1
|
UTSW |
15 |
66,985,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5061:St3gal1
|
UTSW |
15 |
66,980,078 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5199:St3gal1
|
UTSW |
15 |
66,985,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5734:St3gal1
|
UTSW |
15 |
66,978,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5828:St3gal1
|
UTSW |
15 |
66,985,634 (GRCm39) |
nonsense |
probably null |
|
|
R6370:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6371:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6373:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6385:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6387:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6388:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6417:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6420:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6421:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6462:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6463:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6469:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6473:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6759:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6760:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6894:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6963:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7250:St3gal1
|
UTSW |
15 |
66,978,578 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7394:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7588:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7590:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7591:St3gal1
|
UTSW |
15 |
66,983,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7860:St3gal1
|
UTSW |
15 |
66,983,114 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7954:St3gal1
|
UTSW |
15 |
66,984,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:St3gal1
|
UTSW |
15 |
66,985,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8347:St3gal1
|
UTSW |
15 |
66,985,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8348:St3gal1
|
UTSW |
15 |
66,985,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8895:St3gal1
|
UTSW |
15 |
66,980,086 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9765:St3gal1
|
UTSW |
15 |
66,981,499 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:St3gal1
|
UTSW |
15 |
66,983,216 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGAACCTTACGGAACAGC -3'
(R):5'- GTCTGGCCTATGTCTACAAGG -3'
Sequencing Primer
(F):5'- CCCAGCAGGAGTGATACGTTG -3'
(R):5'- AGGTTCCCATTGTACACACGGAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation