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: 0.083)
|
| 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 |
Incidental Mutation