Incidental Mutation 'R5446:St6galnac1'
| ID |
429086 |
| 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 |
043011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116655851-116666333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116657095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 427
(M427L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009732]
[ENSMUST00000009732]
[ENSMUST00000009732]
|
| AlphaFold |
Q9QZ39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009732
AA Change: M427L
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: M427L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
230 |
518 |
2.9e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009732
AA Change: M427L
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: M427L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
230 |
518 |
2.9e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009732
AA Change: M427L
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009732
Gene: ENSMUSG00000009588
AA Change: M427L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,647,486 (GRCm39) |
N155S |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,296,505 (GRCm39) |
D1417G |
possibly damaging |
Het |
| Ankrd52 |
G |
T |
10: 128,224,430 (GRCm39) |
C736F |
probably damaging |
Het |
| Arhgap15 |
T |
A |
2: 43,718,772 (GRCm39) |
H85Q |
probably benign |
Het |
| Bcat2 |
G |
A |
7: 45,234,569 (GRCm39) |
R110H |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,564 (GRCm39) |
H4R |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,779,684 (GRCm39) |
I126V |
probably damaging |
Het |
| Cnbd2 |
A |
C |
2: 156,209,581 (GRCm39) |
E508A |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,685,461 (GRCm39) |
I1191T |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,144,217 (GRCm39) |
T1075A |
probably benign |
Het |
| Edil3 |
A |
C |
13: 89,332,957 (GRCm39) |
H371P |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,523,030 (GRCm39) |
V737A |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,707,786 (GRCm39) |
V809A |
probably benign |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,479,502 (GRCm39) |
D276G |
probably null |
Het |
| Lipm |
C |
T |
19: 34,095,287 (GRCm39) |
A294V |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,880,462 (GRCm39) |
N1185D |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,573,516 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,130 (GRCm39) |
L191P |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,711,893 (GRCm39) |
H241L |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,791,844 (GRCm39) |
I13V |
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,253 (GRCm39) |
L411Q |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,767,410 (GRCm39) |
N266S |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,337,368 (GRCm39) |
T454A |
possibly damaging |
Het |
| Prkcg |
A |
T |
7: 3,378,780 (GRCm39) |
Y675F |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 138,835,066 (GRCm39) |
I169N |
probably damaging |
Het |
| Rreb1 |
G |
A |
13: 38,082,473 (GRCm39) |
R86H |
possibly damaging |
Het |
| Smok3c |
A |
C |
5: 138,062,895 (GRCm39) |
L127F |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,385,722 (GRCm39) |
T205A |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,659,867 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,231 (GRCm39) |
Y564C |
probably damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,932,464 (GRCm39) |
T124P |
probably damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,554 (GRCm39) |
V112E |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,816,609 (GRCm39) |
L447S |
probably damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,107 (GRCm39) |
T539A |
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 |
|
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'- TCAGAGGTTTGCAGGCTCAC -3'
(R):5'- CTTCTGTGACACTTGGAGATGG -3'
Sequencing Primer
(F):5'- GCTCACCTTGTCACAGAGATG -3'
(R):5'- CACTTGGAGATGGGATAGTGGTCAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation