Incidental Mutation 'R2307:St6galnac2'
ID |
244646 |
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 |
040306-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R2307 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116567529-116586608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116572731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 242
(A242T)
|
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: A242T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078501 Gene: ENSMUSG00000057286 AA Change: A242T
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 |
noncoding transcript
Transcript: ENSMUST00000135771
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144398
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACTTCTCGTGCCGTAGCC -3'
(R):5'- GGAATGGGGATCATGTGTCACC -3'
Sequencing Primer
(F):5'- CATGGGTCCTCAGAACA -3'
(R):5'- GGGACATTAAAGTTCTGTGAGCCTAC -3'
|
Posted On |
2014-10-30 |