Incidental Mutation 'IGL02742:St6galnac4'
| ID |
305930 |
| 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 # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32477107-32489710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32487096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 264
(R264C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102818]
[ENSMUST00000131229]
[ENSMUST00000140983]
[ENSMUST00000179989]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102818
AA Change: R264C
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099882
Gene: ENSMUSG00000079442
AA Change: R264C
| 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: ENSMUST00000131229
|
| SMART Domains |
Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
35 |
176 |
3.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140983
|
| SMART Domains |
Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
21 |
229 |
7.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175406
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179989
AA Change: R264C
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136093
Gene: ENSMUSG00000079442
AA Change: R264C
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly damaging |
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 |
|
IGL02615:St6galnac4
|
APN |
2 |
32,484,216 (GRCm39) |
missense |
probably benign |
0.33 |
|
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