Incidental Mutation 'IGL01727:St6galnac2'
| ID |
278807 |
| 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 # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116567529-116586608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116575945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 169
(D169N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079545]
[ENSMUST00000144398]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079545
AA Change: D169N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078501
Gene: ENSMUSG00000057286
AA Change: D169N
| 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: ENSMUST00000123236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144398
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
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 |
|
IGL01733:St6galnac2
|
APN |
11 |
116,575,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03353:St6galnac2
|
APN |
11 |
116,581,128 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation