Incidental Mutation 'R7967:St6gal1'
ID |
650438 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St6gal1
|
Ensembl Gene |
ENSMUSG00000022885 |
Gene Name |
beta galactoside alpha 2,6 sialyltransferase 1 |
Synonyms |
Siat1, ST6Gal I, St6Gal-I |
MMRRC Submission |
046010-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R7967 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
23043490-23179100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23176585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 393
(A393T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023601
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023601]
[ENSMUST00000115335]
[ENSMUST00000178797]
|
AlphaFold |
Q64685 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023601
AA Change: A393T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000023601 Gene: ENSMUSG00000022885 AA Change: A393T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
127 |
389 |
2.3e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115335
AA Change: A393T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000110992 Gene: ENSMUSG00000022885 AA Change: A393T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
140 |
383 |
8.3e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178797
AA Change: A393T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000136206 Gene: ENSMUSG00000022885 AA Change: A393T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_29
|
127 |
389 |
2.3e-63 |
PFAM |
|
Meta Mutation Damage Score |
0.0812 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
FUNCTION: This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous mutation of this gene results in altered terminal glycosylation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
G |
3: 59,932,169 (GRCm39) |
H228R |
probably benign |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
Atp11b |
C |
A |
3: 35,895,192 (GRCm39) |
T910K |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,856,999 (GRCm39) |
L320Q |
probably damaging |
Het |
C530025M09Rik |
G |
A |
2: 149,672,974 (GRCm39) |
R54C |
unknown |
Het |
Cfap251 |
G |
A |
5: 123,421,579 (GRCm39) |
R644H |
possibly damaging |
Het |
Cilp |
A |
T |
9: 65,185,494 (GRCm39) |
I530F |
possibly damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,857,256 (GRCm39) |
V302A |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,798,604 (GRCm39) |
K497E |
possibly damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
Fabp3 |
A |
T |
4: 130,207,781 (GRCm39) |
H94L |
probably damaging |
Het |
Flrt3 |
T |
A |
2: 140,501,811 (GRCm39) |
K606* |
probably null |
Het |
Grm5 |
A |
G |
7: 87,624,569 (GRCm39) |
T379A |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,552,332 (GRCm39) |
Y89F |
probably damaging |
Het |
Hoxd8 |
T |
C |
2: 74,536,378 (GRCm39) |
S163P |
probably damaging |
Het |
Itih4 |
T |
A |
14: 30,614,370 (GRCm39) |
I440N |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,085,461 (GRCm39) |
D2236G |
probably damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Klhl31 |
G |
A |
9: 77,557,430 (GRCm39) |
E49K |
probably damaging |
Het |
Mmp10 |
A |
G |
9: 7,504,116 (GRCm39) |
Y185C |
probably damaging |
Het |
Mtus2 |
A |
T |
5: 148,014,656 (GRCm39) |
E483V |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,456,119 (GRCm39) |
|
probably null |
Het |
Or12e13 |
C |
T |
2: 87,663,863 (GRCm39) |
P160L |
possibly damaging |
Het |
Orc3 |
A |
T |
4: 34,598,645 (GRCm39) |
M187K |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,902 (GRCm39) |
N378S |
probably damaging |
Het |
Pgm2l1 |
A |
C |
7: 99,910,854 (GRCm39) |
H266P |
probably damaging |
Het |
Pld5 |
A |
T |
1: 176,102,264 (GRCm39) |
D59E |
probably benign |
Het |
Ppp2r2c |
A |
G |
5: 37,097,450 (GRCm39) |
D212G |
possibly damaging |
Het |
Prorp |
G |
A |
12: 55,350,979 (GRCm39) |
G96D |
probably benign |
Het |
Rccd1 |
G |
A |
7: 79,968,657 (GRCm39) |
S301L |
possibly damaging |
Het |
Shbg |
T |
A |
11: 69,505,813 (GRCm39) |
D398V |
probably benign |
Het |
Tecta |
G |
A |
9: 42,289,251 (GRCm39) |
T438M |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,756,023 (GRCm39) |
I89F |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Ugt2b36 |
C |
A |
5: 87,214,236 (GRCm39) |
M469I |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,160,830 (GRCm39) |
V445A |
possibly damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,453 (GRCm39) |
C745R |
probably benign |
Het |
|
Other mutations in St6gal1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:St6gal1
|
APN |
16 |
23,175,142 (GRCm39) |
splice site |
probably benign |
|
IGL01667:St6gal1
|
APN |
16 |
23,140,174 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01783:St6gal1
|
APN |
16 |
23,140,305 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02996:St6gal1
|
APN |
16 |
23,139,904 (GRCm39) |
missense |
probably damaging |
0.98 |
R0049:St6gal1
|
UTSW |
16 |
23,139,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:St6gal1
|
UTSW |
16 |
23,139,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:St6gal1
|
UTSW |
16 |
23,174,953 (GRCm39) |
splice site |
probably benign |
|
R1290:St6gal1
|
UTSW |
16 |
23,140,411 (GRCm39) |
missense |
probably benign |
0.03 |
R1352:St6gal1
|
UTSW |
16 |
23,140,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:St6gal1
|
UTSW |
16 |
23,140,083 (GRCm39) |
nonsense |
probably null |
|
R1911:St6gal1
|
UTSW |
16 |
23,140,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R2113:St6gal1
|
UTSW |
16 |
23,147,167 (GRCm39) |
missense |
probably damaging |
0.98 |
R4591:St6gal1
|
UTSW |
16 |
23,140,044 (GRCm39) |
missense |
probably benign |
0.00 |
R5761:St6gal1
|
UTSW |
16 |
23,139,805 (GRCm39) |
utr 5 prime |
probably benign |
|
R6554:St6gal1
|
UTSW |
16 |
23,140,405 (GRCm39) |
missense |
probably benign |
0.00 |
R6925:St6gal1
|
UTSW |
16 |
23,174,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R7658:St6gal1
|
UTSW |
16 |
23,174,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R7740:St6gal1
|
UTSW |
16 |
23,139,785 (GRCm39) |
splice site |
probably benign |
|
R7970:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R7973:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8017:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8017:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8018:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8019:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8044:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8122:St6gal1
|
UTSW |
16 |
23,173,644 (GRCm39) |
missense |
probably benign |
0.00 |
R8123:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R8124:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
R9265:St6gal1
|
UTSW |
16 |
23,140,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGCTGTGTGACCAAGTTG -3'
(R):5'- AATCTGGGCTCCCATACTCTG -3'
Sequencing Primer
(F):5'- CGCTGTGTGACCAAGTTGATATTTAC -3'
(R):5'- TTGCCATCAGACACTGGAG -3'
|
Posted On |
2020-09-15 |