Incidental Mutation 'R6584:St6galnac2'
ID |
524294 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044708-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6584 (G1)
|
Quality Score |
88.0076 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116567529-116586608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116585330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 19
(S19P)
|
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
AA Change: S19P
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000078501 Gene: ENSMUSG00000057286 AA Change: S19P
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: ENSMUST00000145441
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
Amfr |
T |
C |
8: 94,700,783 (GRCm39) |
D559G |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,624,254 (GRCm39) |
Y711C |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,696,128 (GRCm39) |
N1122D |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,126,665 (GRCm39) |
I122T |
probably benign |
Het |
Ets1 |
T |
A |
9: 32,645,293 (GRCm39) |
F180Y |
probably damaging |
Het |
Fbxw14 |
C |
G |
9: 109,115,611 (GRCm39) |
C53S |
possibly damaging |
Het |
Ifna9 |
A |
G |
4: 88,510,375 (GRCm39) |
L83P |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,920,137 (GRCm39) |
C1401R |
probably damaging |
Het |
Il22 |
A |
T |
10: 118,040,932 (GRCm39) |
M13L |
probably benign |
Het |
Il9r |
A |
G |
11: 32,141,782 (GRCm39) |
Y319H |
probably benign |
Het |
Itgb5 |
T |
C |
16: 33,705,400 (GRCm39) |
F230S |
probably damaging |
Het |
Klk1b27 |
T |
A |
7: 43,703,935 (GRCm39) |
I26N |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,571,883 (GRCm39) |
R300C |
probably damaging |
Het |
Map3k4 |
A |
C |
17: 12,479,378 (GRCm39) |
Y730D |
probably damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,963,450 (GRCm39) |
H792Y |
probably damaging |
Het |
Phf20 |
T |
C |
2: 156,136,043 (GRCm39) |
S621P |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,382,040 (GRCm39) |
T219S |
possibly damaging |
Het |
Slitrk3 |
C |
A |
3: 72,956,558 (GRCm39) |
G738V |
probably damaging |
Het |
Smurf1 |
T |
C |
5: 144,819,333 (GRCm39) |
D598G |
probably damaging |
Het |
Stra6l |
G |
A |
4: 45,869,635 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
C |
A |
8: 83,987,629 (GRCm39) |
Q863K |
probably damaging |
Het |
Traf1 |
T |
A |
2: 34,848,070 (GRCm39) |
D8V |
probably damaging |
Het |
Vmn2r24 |
T |
G |
6: 123,792,764 (GRCm39) |
M697R |
possibly damaging |
Het |
Wdr27 |
T |
A |
17: 15,122,031 (GRCm39) |
Y625F |
probably damaging |
Het |
Wdr49 |
T |
C |
3: 75,245,065 (GRCm39) |
M339V |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGCCTGGACGGAATTCAC -3'
(R):5'- TGGAGTTGCTGCGACCTAAG -3'
Sequencing Primer
(F):5'- TGCTCCGGACCGAGCAAAG -3'
(R):5'- TTGCTGCGACCTAAGGCCTG -3'
|
Posted On |
2018-06-22 |