Incidental Mutation 'R8124:St6gal1'
| ID |
631671 |
| 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 |
067553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8124 (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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap3 |
T |
A |
5: 24,683,128 (GRCm39) |
I320N |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,487 (GRCm39) |
G1924S |
probably damaging |
Het |
| Ap2a2 |
G |
A |
7: 141,178,757 (GRCm39) |
R141H |
probably benign |
Het |
| Atf7ip2 |
T |
C |
16: 10,026,999 (GRCm39) |
V89A |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Dab2 |
T |
A |
15: 6,458,878 (GRCm39) |
C263* |
probably null |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,497,142 (GRCm39) |
I1119N |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,623,099 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,008,211 (GRCm39) |
A780T |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,451 (GRCm39) |
D1546G |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| F13a1 |
T |
C |
13: 37,209,779 (GRCm39) |
K62R |
probably damaging |
Het |
| Gm2832 |
T |
C |
14: 41,000,894 (GRCm39) |
M44T |
|
Het |
| Gm9195 |
T |
C |
14: 72,680,063 (GRCm39) |
I2249V |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,290,136 (GRCm39) |
V2323A |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,307,777 (GRCm39) |
N20K |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,863 (GRCm39) |
F146S |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,772,178 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,954 (GRCm39) |
D275E |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,005 (GRCm39) |
S444R |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,511,257 (GRCm39) |
V237A |
unknown |
Het |
| Mip |
T |
C |
10: 128,062,070 (GRCm39) |
V107A |
possibly damaging |
Het |
| Mtrex |
A |
C |
13: 113,063,871 (GRCm39) |
D7E |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,398,279 (GRCm39) |
V1581M |
|
Het |
| Nckap1l |
A |
G |
15: 103,382,248 (GRCm39) |
D481G |
possibly damaging |
Het |
| Obox3 |
A |
T |
7: 15,323,874 (GRCm39) |
|
probably null |
Het |
| Or11h4 |
C |
T |
14: 50,973,743 (GRCm39) |
R292H |
probably benign |
Het |
| Or2d3 |
G |
A |
7: 106,491,088 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or5a21 |
T |
A |
19: 12,310,834 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,984 (GRCm39) |
N294K |
possibly damaging |
Het |
| Or8g27 |
T |
C |
9: 39,128,967 (GRCm39) |
F105L |
probably benign |
Het |
| Pilrb2 |
T |
A |
5: 137,869,306 (GRCm39) |
E98V |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,257,775 (GRCm39) |
V1053A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,835 (GRCm39) |
V485E |
probably damaging |
Het |
| Riox2 |
G |
A |
16: 59,306,954 (GRCm39) |
E282K |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,549,228 (GRCm39) |
V379E |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,729,211 (GRCm38) |
E20K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,210,711 (GRCm39) |
|
probably null |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Tent4a |
G |
A |
13: 69,681,716 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
T |
C |
5: 127,869,624 (GRCm39) |
Q570R |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,222,676 (GRCm39) |
T168A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,207,995 (GRCm39) |
R1747G |
probably benign |
Het |
| Txk |
C |
T |
5: 72,860,606 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,852,373 (GRCm39) |
L862F |
possibly damaging |
Het |
| Wdr64 |
A |
T |
1: 175,626,844 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
G |
T |
2: 120,354,812 (GRCm39) |
Q1343K |
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,239,314 (GRCm39) |
T301A |
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 |
|
|
R7967:St6gal1
|
UTSW |
16 |
23,176,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
R9265:St6gal1
|
UTSW |
16 |
23,140,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTTGATATTTACGAGTTCCTCCC -3'
(R):5'- TACGGCAAGAATCTGGGCTC -3'
Sequencing Primer
(F):5'- GAGTTCCTCCCATCCAAGCG -3'
(R):5'- TTGCCATCAGACACTGGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation