Incidental Mutation 'IGL02996:St6gal1'
ID |
407133 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
St6gal1
|
Ensembl Gene |
ENSMUSG00000022885 |
Gene Name |
beta galactoside alpha 2,6 sialyltransferase 1 |
Synonyms |
Siat1, ST6Gal I, St6Gal-I |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL02996
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
23043490-23179100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23139904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 25
(V25E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023601]
[ENSMUST00000115335]
[ENSMUST00000128050]
[ENSMUST00000178797]
|
AlphaFold |
Q64685 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023601
AA Change: V25E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000023601 Gene: ENSMUSG00000022885 AA Change: V25E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
127 |
389 |
2.3e-63 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115335
AA Change: V25E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110992 Gene: ENSMUSG00000022885 AA Change: V25E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
140 |
383 |
8.3e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128050
AA Change: V25E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152449
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178797
AA Change: V25E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000136206 Gene: ENSMUSG00000022885 AA Change: V25E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
127 |
389 |
2.3e-63 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galnt1 |
C |
T |
10: 127,002,872 (GRCm39) |
R130W |
probably damaging |
Het |
Cd200r3 |
T |
C |
16: 44,774,680 (GRCm39) |
L231P |
probably damaging |
Het |
Cd200r4 |
C |
A |
16: 44,653,396 (GRCm39) |
N55K |
probably benign |
Het |
Cyb561d1 |
C |
T |
3: 108,106,961 (GRCm39) |
R86Q |
probably damaging |
Het |
Dst |
T |
C |
1: 34,227,479 (GRCm39) |
S1869P |
possibly damaging |
Het |
Dusp6 |
T |
C |
10: 99,100,628 (GRCm39) |
V208A |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 6,935,279 (GRCm39) |
V4248E |
probably damaging |
Het |
Exoc6b |
T |
A |
6: 84,885,195 (GRCm39) |
D248V |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,012,674 (GRCm39) |
D2323A |
probably damaging |
Het |
Fbxo6 |
T |
C |
4: 148,231,348 (GRCm39) |
Y144C |
probably damaging |
Het |
Gm7334 |
C |
A |
17: 51,006,084 (GRCm39) |
N123K |
possibly damaging |
Het |
Large2 |
T |
C |
2: 92,196,273 (GRCm39) |
H518R |
possibly damaging |
Het |
Marchf4 |
G |
A |
1: 72,468,058 (GRCm39) |
Q325* |
probably null |
Het |
Mccc2 |
C |
A |
13: 100,097,487 (GRCm39) |
|
probably benign |
Het |
Mical3 |
T |
C |
6: 120,935,519 (GRCm39) |
D1669G |
probably damaging |
Het |
Mkrn2 |
T |
C |
6: 115,588,868 (GRCm39) |
F204L |
probably benign |
Het |
Or1p1 |
T |
C |
11: 74,179,991 (GRCm39) |
V173A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,970,627 (GRCm39) |
D148G |
probably benign |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Rwdd1 |
G |
T |
10: 33,878,512 (GRCm39) |
Q108K |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,565,086 (GRCm39) |
E496G |
probably damaging |
Het |
Syt4 |
T |
C |
18: 31,577,199 (GRCm39) |
K52E |
probably damaging |
Het |
Tap1 |
C |
A |
17: 34,410,370 (GRCm39) |
A349E |
probably damaging |
Het |
Tfr2 |
T |
A |
5: 137,581,728 (GRCm39) |
M605K |
probably benign |
Het |
Tmem192 |
A |
G |
8: 65,421,442 (GRCm39) |
|
probably null |
Het |
Trf |
T |
C |
9: 103,098,102 (GRCm39) |
E52G |
probably benign |
Het |
Ttn |
A |
G |
2: 76,556,531 (GRCm39) |
V30158A |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,143,991 (GRCm39) |
E152G |
probably damaging |
Het |
Vmn2r57 |
T |
A |
7: 41,049,165 (GRCm39) |
K861N |
probably benign |
Het |
|
Other mutations in St6gal1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:St6gal1
|
APN |
16 |
23,175,142 (GRCm39) |
splice site |
probably benign |
|
IGL01667:St6gal1
|
APN |
16 |
23,140,174 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01783:St6gal1
|
APN |
16 |
23,140,305 (GRCm39) |
missense |
probably benign |
0.29 |
R0049:St6gal1
|
UTSW |
16 |
23,139,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:St6gal1
|
UTSW |
16 |
23,139,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:St6gal1
|
UTSW |
16 |
23,174,953 (GRCm39) |
splice site |
probably benign |
|
R1290:St6gal1
|
UTSW |
16 |
23,140,411 (GRCm39) |
missense |
probably benign |
0.03 |
R1352:St6gal1
|
UTSW |
16 |
23,140,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:St6gal1
|
UTSW |
16 |
23,140,083 (GRCm39) |
nonsense |
probably null |
|
R1911:St6gal1
|
UTSW |
16 |
23,140,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R2113:St6gal1
|
UTSW |
16 |
23,147,167 (GRCm39) |
missense |
probably damaging |
0.98 |
R4591:St6gal1
|
UTSW |
16 |
23,140,044 (GRCm39) |
missense |
probably benign |
0.00 |
R5761:St6gal1
|
UTSW |
16 |
23,139,805 (GRCm39) |
utr 5 prime |
probably benign |
|
R6554:St6gal1
|
UTSW |
16 |
23,140,405 (GRCm39) |
missense |
probably benign |
0.00 |
R6925:St6gal1
|
UTSW |
16 |
23,174,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R7658:St6gal1
|
UTSW |
16 |
23,174,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R7740:St6gal1
|
UTSW |
16 |
23,139,785 (GRCm39) |
splice site |
probably benign |
|
R7967:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R7970:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R7973:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8017:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8017:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8018:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8019:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8044:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8122:St6gal1
|
UTSW |
16 |
23,173,644 (GRCm39) |
missense |
probably benign |
0.00 |
R8123:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8124:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R9265:St6gal1
|
UTSW |
16 |
23,140,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |