Incidental Mutation 'R8373:St6galnac1'
| ID |
646552 |
| 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 |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116655851-116666333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116660059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 85
(K85E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009732]
|
| AlphaFold |
Q9QZ39 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009732
AA Change: K85E
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: K85E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,343,078 (GRCm39) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,291,094 (GRCm39) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,823,816 (GRCm39) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,203,731 (GRCm39) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,409,152 (GRCm39) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 112,442,370 (GRCm39) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,896,729 (GRCm39) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,491,997 (GRCm39) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,671 (GRCm39) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,781,958 (GRCm39) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,716 (GRCm39) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,383,762 (GRCm39) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,371,820 (GRCm39) |
I252S |
probably benign |
Het |
| Gp9 |
C |
T |
6: 87,755,994 (GRCm39) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,432 (GRCm39) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,416,089 (GRCm39) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,577 (GRCm39) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,030,295 (GRCm39) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,872 (GRCm39) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 95,041,077 (GRCm39) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm39) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,954,032 (GRCm39) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,898,893 (GRCm39) |
L571Q |
probably damaging |
Het |
| Or13a18 |
A |
T |
7: 140,190,208 (GRCm39) |
Y35F |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,280 (GRCm39) |
F103S |
probably damaging |
Het |
| Phgdh |
G |
A |
3: 98,228,561 (GRCm39) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,107,980 (GRCm39) |
V310M |
probably null |
Het |
| Prss3b |
T |
G |
6: 41,008,622 (GRCm39) |
T231P |
possibly damaging |
Het |
| Psmd12 |
C |
T |
11: 107,388,450 (GRCm39) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,688,982 (GRCm39) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,616,097 (GRCm39) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,512,815 (GRCm39) |
R88G |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,773,488 (GRCm39) |
S49R |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,880,091 (GRCm39) |
I612F |
|
Het |
| Wdr48 |
A |
G |
9: 119,734,560 (GRCm39) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,674,502 (GRCm39) |
T93M |
unknown |
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 |
|
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 |
|
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'- GACCACTTTCTTCTTAGCTGGG -3'
(R):5'- GCCAGTTTATAGAACAGCCAAC -3'
Sequencing Primer
(F):5'- ACAGCTCCTGTGGCCATTG -3'
(R):5'- GTTTATAGAACAGCCAACCTTCATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation