Incidental Mutation 'IGL03353:St6galnac2'
| ID |
419824 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St6galnac2
|
| Ensembl Gene |
ENSMUSG00000110170 |
| Gene Name |
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
| Synonyms |
ST6GalNAc II, Siat7, Siat7b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL03353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116567529-116586608 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 116581128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079545]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079545
|
| SMART Domains |
Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
90 |
373 |
2.9e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145441
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased body weight, decreased IgQ, increased B cell proliferation, increased pre-B cell number, abnormal erythropoiesis, increased ALT, decreased creatinine level and prominent spleen germinal center. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
G |
4: 40,175,893 (GRCm39) |
I176V |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,777 (GRCm39) |
T73A |
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,969,900 (GRCm39) |
L1191F |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,718,331 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,376,022 (GRCm39) |
T624A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,366 (GRCm39) |
V537A |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,867,757 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
T |
13: 38,370,671 (GRCm39) |
Y858F |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,249,751 (GRCm39) |
Y550H |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,261,926 (GRCm39) |
K204E |
probably damaging |
Het |
| Frrs1l |
G |
A |
4: 56,968,121 (GRCm39) |
T217M |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,737 (GRCm39) |
S1352N |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,795 (GRCm39) |
D1177G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,801 (GRCm39) |
V44I |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,533 (GRCm39) |
M393T |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,447,991 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
G |
T |
14: 75,095,482 (GRCm39) |
H119Q |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,788 (GRCm39) |
N84I |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,167,890 (GRCm39) |
V669A |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,917 (GRCm39) |
N158S |
probably benign |
Het |
| Polk |
C |
T |
13: 96,625,719 (GRCm39) |
A362T |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,192,063 (GRCm39) |
L403* |
probably null |
Het |
| Skint5 |
T |
C |
4: 113,599,379 (GRCm39) |
D720G |
unknown |
Het |
| Snx6 |
A |
G |
12: 54,812,469 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
A |
T |
X: 49,959,275 (GRCm39) |
D62V |
probably damaging |
Het |
| Tgds |
G |
A |
14: 118,364,919 (GRCm39) |
Q101* |
probably null |
Het |
| Tmem135 |
C |
A |
7: 88,791,161 (GRCm39) |
R421L |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,174,135 (GRCm39) |
V209E |
probably damaging |
Het |
| Tulp2 |
C |
A |
7: 45,165,696 (GRCm39) |
P98Q |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,893,745 (GRCm39) |
V12I |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,259,119 (GRCm39) |
T398A |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,776 (GRCm39) |
T276A |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,202,781 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Zfp60 |
T |
A |
7: 27,447,759 (GRCm39) |
Y142* |
probably null |
Het |
|
| Other mutations in St6galnac2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01714:St6galnac2
|
APN |
11 |
116,575,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:St6galnac2
|
APN |
11 |
116,575,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:St6galnac2
|
APN |
11 |
116,575,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01733:St6galnac2
|
APN |
11 |
116,575,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:St6galnac2
|
UTSW |
11 |
116,575,173 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1524:St6galnac2
|
UTSW |
11 |
116,575,313 (GRCm39) |
unclassified |
probably benign |
|
|
R1855:St6galnac2
|
UTSW |
11 |
116,581,141 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2307:St6galnac2
|
UTSW |
11 |
116,572,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:St6galnac2
|
UTSW |
11 |
116,572,724 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4658:St6galnac2
|
UTSW |
11 |
116,575,351 (GRCm39) |
unclassified |
probably benign |
|
|
R5174:St6galnac2
|
UTSW |
11 |
116,572,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:St6galnac2
|
UTSW |
11 |
116,575,353 (GRCm39) |
unclassified |
probably benign |
|
|
R5655:St6galnac2
|
UTSW |
11 |
116,575,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6584:St6galnac2
|
UTSW |
11 |
116,585,330 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6702:St6galnac2
|
UTSW |
11 |
116,575,213 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6703:St6galnac2
|
UTSW |
11 |
116,575,213 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7090:St6galnac2
|
UTSW |
11 |
116,568,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:St6galnac2
|
UTSW |
11 |
116,570,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:St6galnac2
|
UTSW |
11 |
116,570,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:St6galnac2
|
UTSW |
11 |
116,570,811 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7751:St6galnac2
|
UTSW |
11 |
116,568,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:St6galnac2
|
UTSW |
11 |
116,576,764 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7970:St6galnac2
|
UTSW |
11 |
116,581,169 (GRCm39) |
missense |
probably benign |
|
|
R8191:St6galnac2
|
UTSW |
11 |
116,572,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8440:St6galnac2
|
UTSW |
11 |
116,568,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:St6galnac2
|
UTSW |
11 |
116,568,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:St6galnac2
|
UTSW |
11 |
116,569,344 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation