Incidental Mutation 'R1290:St6gal1'
| ID |
150770 |
| 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 |
039356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R1290 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
23043490-23179100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23140411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 194
(Q194R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023601]
[ENSMUST00000115335]
[ENSMUST00000128050]
[ENSMUST00000178797]
|
| AlphaFold |
Q64685 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023601
AA Change: Q194R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023601
Gene: ENSMUSG00000022885
AA Change: Q194R
| 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: Q194R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110992
Gene: ENSMUSG00000022885
AA Change: Q194R
| 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 benign
Transcript: ENSMUST00000178797
AA Change: Q194R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000136206
Gene: ENSMUSG00000022885
AA Change: Q194R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
127 |
389 |
2.3e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfrp1 |
C |
T |
2: 181,006,397 (GRCm39) |
|
probably null |
Het |
| Borcs5 |
A |
G |
6: 134,621,331 (GRCm39) |
D34G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efl1 |
T |
C |
7: 82,320,936 (GRCm39) |
V123A |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,531,100 (GRCm39) |
L99Q |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,373,000 (GRCm39) |
D1026G |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,449 (GRCm39) |
F286S |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,228,117 (GRCm39) |
|
probably null |
Het |
| Ints1 |
A |
T |
5: 139,757,165 (GRCm39) |
L417* |
probably null |
Het |
| Iqgap2 |
A |
T |
13: 95,805,021 (GRCm39) |
V845E |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,125,001 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
T |
C |
18: 74,402,557 (GRCm39) |
S20P |
possibly damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,051,725 (GRCm39) |
N238I |
probably damaging |
Het |
| Neurod2 |
A |
T |
11: 98,218,114 (GRCm39) |
V350E |
possibly damaging |
Het |
| P3h2 |
C |
T |
16: 25,805,953 (GRCm39) |
E297K |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,283 (GRCm39) |
H78R |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 119,007,518 (GRCm39) |
L297R |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,587,275 (GRCm39) |
G445D |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,140,778 (GRCm39) |
D659G |
probably damaging |
Het |
| Tas2r104 |
A |
T |
6: 131,661,808 (GRCm39) |
C300* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,707,199 (GRCm39) |
S702N |
probably benign |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
A |
T |
5: 34,356,145 (GRCm39) |
D785E |
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 |
|
|
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 |
|
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'- GACCAGGAGTCAAGTTCAGCGTAG -3'
(R):5'- AATTCCCCAGTCAATCCTCGGACG -3'
Sequencing Primer
(F):5'- TCAAGTTCAGCGTAGAGGCG -3'
(R):5'- tgagcaagccagtaagcag -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation