Incidental Mutation 'R3835:St6galnac1'
| ID |
275598 |
| 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 |
040890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R3835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116655851-116666333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116657109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 422
(D422G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009732]
|
| AlphaFold |
Q9QZ39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009732
AA Change: D422G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: D422G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
230 |
518 |
2.9e-72 |
PFAM |
|
| Meta Mutation Damage Score |
0.5002 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
| Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
| Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
| Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
| Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
| Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
| Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
| Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
| Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
| Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
| Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTATCAGAGGTTTGCAGGC -3'
(R):5'- CTGTGACACTTGGAGATGGG -3'
Sequencing Primer
(F):5'- TATCAGAGGTTTGCAGGCTCACC -3'
(R):5'- CACTTGGAGATGGGATAGTGGTCAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation