Incidental Mutation 'R1352:St6gal1'
| ID |
156718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St6gal1
|
| Ensembl Gene |
ENSMUSG00000022885 |
| Gene Name |
beta galactoside alpha 2,6 sialyltransferase 1 |
| Synonyms |
St6Gal-I, Siat1, ST6Gal I |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
23224740-23360350 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23321651 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 191
(K191E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023601]
[ENSMUST00000115335]
[ENSMUST00000128050]
[ENSMUST00000178797]
|
| AlphaFold |
Q64685 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023601
AA Change: K191E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885
AA Change: K191E
| 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 damaging
Transcript: ENSMUST00000115335
AA Change: K191E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110992
Gene: ENSMUSG00000022885
AA Change: K191E
| 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: ENSMUST00000128050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152449
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178797
AA Change: K191E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885
AA Change: K191E
| 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 |
0.2090 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| 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 |
|---|
| Abcc8 |
A |
G |
7: 46,135,468 (GRCm38) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,738,530 (GRCm38) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,635,519 (GRCm38) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm38) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,416,495 (GRCm38) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 172,037,456 (GRCm38) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,247,174 (GRCm38) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,545,163 (GRCm38) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,229,248 (GRCm38) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,831,003 (GRCm38) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,317,010 (GRCm38) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,930,848 (GRCm38) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,250,735 (GRCm38) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,440,534 (GRCm38) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,816,660 (GRCm38) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,420,695 (GRCm38) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,111,742 (GRCm38) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,924,635 (GRCm38) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 23,067,694 (GRCm38) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,115,367 (GRCm38) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,323,675 (GRCm38) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,468,060 (GRCm38) |
R128G |
unknown |
Het |
| Olfr1350 |
A |
T |
7: 6,570,783 (GRCm38) |
Y264F |
probably benign |
Het |
| Olfr624 |
T |
C |
7: 103,670,311 (GRCm38) |
H240R |
probably damaging |
Het |
| Prlr |
T |
C |
15: 10,328,786 (GRCm38) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,153,042 (GRCm38) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,394,807 (GRCm38) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,386,822 (GRCm38) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 30,021,187 (GRCm38) |
|
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,650,811 (GRCm38) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,225 (GRCm38) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,140,940 (GRCm38) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm38) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,347,008 (GRCm38) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,525,046 (GRCm38) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,954,652 (GRCm38) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,846,697 (GRCm38) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,418,550 (GRCm38) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,294,916 (GRCm38) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,303,053 (GRCm38) |
A197E |
probably damaging |
Het |
|
| Other mutations in St6gal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:St6gal1
|
APN |
16 |
23,356,392 (GRCm38) |
splice site |
probably benign |
|
|
IGL01667:St6gal1
|
APN |
16 |
23,321,424 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01783:St6gal1
|
APN |
16 |
23,321,555 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL02996:St6gal1
|
APN |
16 |
23,321,154 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0049:St6gal1
|
UTSW |
16 |
23,321,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0049:St6gal1
|
UTSW |
16 |
23,321,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0295:St6gal1
|
UTSW |
16 |
23,356,203 (GRCm38) |
splice site |
probably benign |
|
|
R1290:St6gal1
|
UTSW |
16 |
23,321,661 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1817:St6gal1
|
UTSW |
16 |
23,321,333 (GRCm38) |
nonsense |
probably null |
|
|
R1911:St6gal1
|
UTSW |
16 |
23,321,633 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2113:St6gal1
|
UTSW |
16 |
23,328,417 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4591:St6gal1
|
UTSW |
16 |
23,321,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5761:St6gal1
|
UTSW |
16 |
23,321,055 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R6554:St6gal1
|
UTSW |
16 |
23,321,655 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6925:St6gal1
|
UTSW |
16 |
23,356,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7658:St6gal1
|
UTSW |
16 |
23,356,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7740:St6gal1
|
UTSW |
16 |
23,321,035 (GRCm38) |
splice site |
probably benign |
|
|
R7967:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7970:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7973:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8017:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8017:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8018:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8019:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8044:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8122:St6gal1
|
UTSW |
16 |
23,354,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8123:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8124:St6gal1
|
UTSW |
16 |
23,357,835 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9265:St6gal1
|
UTSW |
16 |
23,321,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAGGAGTCAAGTTCAGCGTAG -3'
(R):5'- AATTCCCCAGTCAATCCTCGGACG -3'
Sequencing Primer
(F):5'- TCAAGTTCAGCGTAGAGGCG -3'
(R):5'- tgagcaagccagtaagcag -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation