Incidental Mutation 'R8348:St3gal1'
| ID |
660454 |
| 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 |
067732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66974724-67048575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66985511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 48
(R48C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092640]
[ENSMUST00000229028]
[ENSMUST00000229213]
|
| AlphaFold |
P54751 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092640
AA Change: R48C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090307
Gene: ENSMUSG00000013846
AA Change: R48C
| 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 |
probably damaging
Transcript: ENSMUST00000229028
AA Change: R48C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229213
AA Change: R48C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C10Rik |
A |
G |
7: 37,894,384 (GRCm39) |
Y139C |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,634,514 (GRCm39) |
D43G |
probably damaging |
Het |
| Actn3 |
C |
A |
19: 4,915,361 (GRCm39) |
V464L |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| Arhgef28 |
G |
T |
13: 98,190,375 (GRCm39) |
P195T |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,245,854 (GRCm39) |
D107E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,167,507 (GRCm39) |
V1828M |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,704,593 (GRCm39) |
T440A |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,325 (GRCm39) |
A390V |
probably benign |
Het |
| Desi2 |
T |
A |
1: 178,083,906 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,320,273 (GRCm39) |
M3932K |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,955,121 (GRCm39) |
Q2050L |
probably damaging |
Het |
| Etnppl |
T |
A |
3: 130,423,141 (GRCm39) |
M274K |
probably benign |
Het |
| Farp2 |
G |
T |
1: 93,504,614 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
G |
A |
7: 18,870,469 (GRCm39) |
G363R |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,909 (GRCm39) |
V27A |
probably benign |
Het |
| Fndc3b |
T |
A |
3: 27,494,144 (GRCm39) |
M994L |
probably benign |
Het |
| G3bp1 |
T |
G |
11: 55,389,457 (GRCm39) |
D384E |
possibly damaging |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gle1 |
T |
C |
2: 29,832,556 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Gm3415 |
G |
A |
5: 146,493,407 (GRCm39) |
R84H |
probably benign |
Het |
| Gm7694 |
A |
C |
1: 170,129,209 (GRCm39) |
S107A |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 117,673,232 (GRCm39) |
D163G |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,251,892 (GRCm39) |
H514Y |
possibly damaging |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,370 (GRCm39) |
E595G |
possibly damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
| Hoxc4 |
T |
C |
15: 102,943,440 (GRCm39) |
C98R |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,329,878 (GRCm39) |
I4871F |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,292,187 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
G |
7: 16,007,055 (GRCm39) |
I54T |
probably damaging |
Het |
| Inpp5b |
G |
A |
4: 124,678,967 (GRCm39) |
G458D |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,054,974 (GRCm39) |
S1153T |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,096,609 (GRCm39) |
Y77C |
probably damaging |
Het |
| Klhl35 |
C |
A |
7: 99,121,062 (GRCm39) |
D10E |
probably damaging |
Het |
| Lef1 |
A |
T |
3: 130,906,461 (GRCm39) |
M1L |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,678,753 (GRCm39) |
T403A |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,958,531 (GRCm39) |
N518I |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,974 (GRCm39) |
C269R |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,523,919 (GRCm39) |
L81* |
probably null |
Het |
| Mug2 |
A |
T |
6: 122,049,192 (GRCm39) |
K903* |
probably null |
Het |
| Nhsl3 |
G |
A |
4: 129,117,699 (GRCm39) |
R322C |
probably damaging |
Het |
| Pex6 |
T |
C |
17: 47,034,039 (GRCm39) |
S656P |
probably benign |
Het |
| Pgr |
C |
A |
9: 8,922,602 (GRCm39) |
Q591K |
probably benign |
Het |
| Phactr3 |
T |
C |
2: 177,897,935 (GRCm39) |
S50P |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,045 (GRCm39) |
N778K |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,583,655 (GRCm39) |
V545A |
possibly damaging |
Het |
| Snf8 |
A |
G |
11: 95,925,877 (GRCm39) |
K13R |
probably benign |
Het |
| Tacc2 |
A |
C |
7: 130,225,019 (GRCm39) |
K568T |
possibly damaging |
Het |
| Tnxb |
C |
A |
17: 34,929,102 (GRCm39) |
T2715K |
possibly damaging |
Het |
| Vegfb |
T |
C |
19: 6,962,856 (GRCm39) |
I140V |
probably benign |
Het |
| Vmn2r89 |
A |
C |
14: 51,692,548 (GRCm39) |
D117A |
possibly damaging |
Het |
| Vps13c |
C |
T |
9: 67,786,385 (GRCm39) |
T284I |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,906,960 (GRCm39) |
|
probably null |
Het |
| Wscd2 |
T |
A |
5: 113,710,371 (GRCm39) |
H298Q |
possibly damaging |
Het |
| Zfp69 |
A |
T |
4: 120,787,834 (GRCm39) |
C494S |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,361 (GRCm39) |
T200A |
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 |
|
R6474: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 |
|
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'- TCAAATGCTTGGTGGGTCCC -3'
(R):5'- TCTGTTCAGCTCTAGGAGGG -3'
Sequencing Primer
(F):5'- CCACTCCCAGACCCTATTCTG -3'
(R):5'- GGGGGTCTCCTCTCTTCCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation