Incidental Mutation 'IGL02569:St6galnac1'
| ID |
298947 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116655851-116666333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116658528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 312
(D312G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009732]
|
| AlphaFold |
Q9QZ39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009732
AA Change: D312G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: D312G
| 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 |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,034,061 (GRCm39) |
D2223G |
probably damaging |
Het |
| Brd1 |
A |
G |
15: 88,598,132 (GRCm39) |
L538P |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,245 (GRCm39) |
V424A |
probably damaging |
Het |
| Capg |
A |
C |
6: 72,538,032 (GRCm39) |
E306A |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,428 (GRCm39) |
Y115C |
probably benign |
Het |
| Crat |
G |
A |
2: 30,294,542 (GRCm39) |
R509W |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,477,985 (GRCm39) |
N1594S |
possibly damaging |
Het |
| Fabp2 |
T |
C |
3: 122,689,113 (GRCm39) |
F18L |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,985 (GRCm39) |
K263R |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,518,323 (GRCm39) |
C323Y |
probably benign |
Het |
| Fas |
A |
G |
19: 34,297,962 (GRCm39) |
E210G |
possibly damaging |
Het |
| Fgfbp1 |
A |
G |
5: 44,136,569 (GRCm39) |
F241S |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,932 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,573,244 (GRCm39) |
M2135K |
probably benign |
Het |
| Ikbkb |
G |
T |
8: 23,183,899 (GRCm39) |
Q84K |
probably damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,384,426 (GRCm39) |
T251A |
probably benign |
Het |
| Mphosph9 |
C |
A |
5: 124,435,634 (GRCm39) |
E600* |
probably null |
Het |
| Or2ag1 |
T |
A |
7: 106,313,793 (GRCm39) |
I32L |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,849 (GRCm39) |
T30S |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,698,602 (GRCm39) |
K341N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Scart2 |
A |
C |
7: 139,878,275 (GRCm39) |
I885L |
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,030,285 (GRCm39) |
Y132C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tardbp |
A |
G |
4: 148,703,639 (GRCm39) |
|
probably null |
Het |
| Tex9 |
C |
T |
9: 72,385,645 (GRCm39) |
V8I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,301,382 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,818,129 (GRCm39) |
W182* |
probably null |
Het |
| Vmn2r61 |
G |
A |
7: 41,926,070 (GRCm39) |
G525E |
probably damaging |
Het |
| Zfp111 |
T |
C |
7: 23,906,494 (GRCm39) |
T2A |
possibly 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 |
|
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 |
|
R6625:St6galnac1
|
UTSW |
11 |
116,656,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation