Incidental Mutation 'IGL02615:St6galnac4'
| ID |
300621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St6galnac4
|
| Ensembl Gene |
ENSMUSG00000079442 |
| Gene Name |
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
| Synonyms |
Siat7d, ST6GalNAc IV |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32477107-32489710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32484216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 138
(H138R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102818]
[ENSMUST00000179989]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102818
AA Change: H138R
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099882
Gene: ENSMUSG00000079442
AA Change: H138R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
48 |
296 |
4.5e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175406
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179989
AA Change: H138R
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136093
Gene: ENSMUSG00000079442
AA Change: H138R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
46 |
296 |
1.7e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192934
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
| Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
probably benign |
Het |
|
| Other mutations in St6galnac4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01608:St6galnac4
|
APN |
2 |
32,484,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02742:St6galnac4
|
APN |
2 |
32,487,096 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
paxinterra
|
UTSW |
2 |
32,484,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
warcraft
|
UTSW |
2 |
32,484,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:St6galnac4
|
UTSW |
2 |
32,484,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:St6galnac4
|
UTSW |
2 |
32,484,031 (GRCm39) |
nonsense |
probably null |
|
|
R0647:St6galnac4
|
UTSW |
2 |
32,479,460 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3419:St6galnac4
|
UTSW |
2 |
32,485,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:St6galnac4
|
UTSW |
2 |
32,484,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:St6galnac4
|
UTSW |
2 |
32,477,172 (GRCm39) |
unclassified |
probably benign |
|
|
R4995:St6galnac4
|
UTSW |
2 |
32,484,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6538:St6galnac4
|
UTSW |
2 |
32,487,090 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8273:St6galnac4
|
UTSW |
2 |
32,477,667 (GRCm39) |
start gained |
probably benign |
|
|
R8391:St6galnac4
|
UTSW |
2 |
32,484,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:St6galnac4
|
UTSW |
2 |
32,484,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:St6galnac4
|
UTSW |
2 |
32,479,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:St6galnac4
|
UTSW |
2 |
32,485,739 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation