Incidental Mutation 'R6625:St6galnac1'
ID |
524756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St6galnac1
|
Ensembl Gene |
ENSMUSG00000009588 |
Gene Name |
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 |
Synonyms |
Siat7a, ST6GalNAc I |
MMRRC Submission |
044747-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R6625 (G1)
|
Quality Score |
181.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116655851-116666333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116656717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 474
(H474R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009732]
|
AlphaFold |
Q9QZ39 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009732
AA Change: H474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000009732 Gene: ENSMUSG00000009588 AA Change: H474R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
230 |
518 |
2.9e-72 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
91% (30/33) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
probably damaging |
Het |
|
Other mutations in St6galnac1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:St6galnac1
|
APN |
11 |
116,658,532 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01451:St6galnac1
|
APN |
11 |
116,660,165 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01873:St6galnac1
|
APN |
11 |
116,657,437 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02569:St6galnac1
|
APN |
11 |
116,658,528 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02799:St6galnac1
|
APN |
11 |
116,657,473 (GRCm39) |
splice site |
probably benign |
|
IGL02935:St6galnac1
|
APN |
11 |
116,660,171 (GRCm39) |
missense |
probably benign |
|
IGL03124:St6galnac1
|
APN |
11 |
116,666,125 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4520001:St6galnac1
|
UTSW |
11 |
116,660,175 (GRCm39) |
missense |
probably benign |
0.00 |
R0126:St6galnac1
|
UTSW |
11 |
116,657,410 (GRCm39) |
missense |
probably benign |
0.00 |
R0363:St6galnac1
|
UTSW |
11 |
116,659,756 (GRCm39) |
missense |
probably benign |
0.36 |
R0394:St6galnac1
|
UTSW |
11 |
116,657,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R0828:St6galnac1
|
UTSW |
11 |
116,659,823 (GRCm39) |
missense |
probably benign |
0.05 |
R1569:St6galnac1
|
UTSW |
11 |
116,660,097 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1570:St6galnac1
|
UTSW |
11 |
116,657,474 (GRCm39) |
splice site |
probably benign |
|
R1591:St6galnac1
|
UTSW |
11 |
116,656,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1602:St6galnac1
|
UTSW |
11 |
116,660,113 (GRCm39) |
missense |
probably benign |
0.00 |
R2088:St6galnac1
|
UTSW |
11 |
116,659,933 (GRCm39) |
missense |
probably benign |
0.00 |
R2212:St6galnac1
|
UTSW |
11 |
116,656,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:St6galnac1
|
UTSW |
11 |
116,658,673 (GRCm39) |
nonsense |
probably null |
|
R3413:St6galnac1
|
UTSW |
11 |
116,656,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:St6galnac1
|
UTSW |
11 |
116,657,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R5016:St6galnac1
|
UTSW |
11 |
116,656,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:St6galnac1
|
UTSW |
11 |
116,657,095 (GRCm39) |
missense |
probably benign |
0.37 |
R6805:St6galnac1
|
UTSW |
11 |
116,659,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R7007:St6galnac1
|
UTSW |
11 |
116,657,833 (GRCm39) |
nonsense |
probably null |
|
R7133:St6galnac1
|
UTSW |
11 |
116,657,899 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7491:St6galnac1
|
UTSW |
11 |
116,660,010 (GRCm39) |
missense |
probably benign |
0.14 |
R7724:St6galnac1
|
UTSW |
11 |
116,656,898 (GRCm39) |
critical splice donor site |
probably null |
|
R7812:St6galnac1
|
UTSW |
11 |
116,659,927 (GRCm39) |
missense |
probably benign |
0.16 |
R8160:St6galnac1
|
UTSW |
11 |
116,666,316 (GRCm39) |
start gained |
probably benign |
|
R8341:St6galnac1
|
UTSW |
11 |
116,659,714 (GRCm39) |
missense |
probably benign |
0.00 |
R8373:St6galnac1
|
UTSW |
11 |
116,660,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8379:St6galnac1
|
UTSW |
11 |
116,666,325 (GRCm39) |
start gained |
probably benign |
|
R8524:St6galnac1
|
UTSW |
11 |
116,658,547 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1177:St6galnac1
|
UTSW |
11 |
116,666,254 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGGAGCCCTTGCATTC -3'
(R):5'- AGCCTGCAAACCTCTGATAG -3'
Sequencing Primer
(F):5'- AGCCCTTGCATTCTGTGTTGTAAG -3'
(R):5'- GGATTAGGATCGAGCATGTACACCC -3'
|
Posted On |
2018-06-22 |