Incidental Mutation 'R0696:St8sia5'
| ID |
63467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia5
|
| Ensembl Gene |
ENSMUSG00000025425 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
| Synonyms |
ST8SiaV, Siat8e |
| MMRRC Submission |
038880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0696 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77342160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 254
(N254S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075290]
[ENSMUST00000079618]
|
| AlphaFold |
P70126 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075290
AA Change: N290S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: N290S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
152 |
407 |
6.4e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079618
AA Change: N254S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: N254S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
112 |
372 |
5.4e-79 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,855 (GRCm39) |
K189R |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,657 (GRCm39) |
|
probably null |
Het |
| Atp6v1a |
G |
T |
16: 43,907,834 (GRCm39) |
Q603K |
probably benign |
Het |
| Bcorl1 |
C |
A |
X: 47,494,895 (GRCm39) |
P1722H |
probably damaging |
Het |
| Cd209a |
C |
A |
8: 3,798,384 (GRCm39) |
A55S |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
| Cdsn |
A |
T |
17: 35,866,893 (GRCm39) |
Q474L |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,270 (GRCm39) |
D753V |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,970,534 (GRCm39) |
P1084L |
probably damaging |
Het |
| Cyp7b1 |
T |
C |
3: 18,126,749 (GRCm39) |
T466A |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,761,092 (GRCm39) |
W253* |
probably null |
Het |
| Igf2bp2 |
A |
T |
16: 21,898,875 (GRCm39) |
S245T |
probably benign |
Het |
| Lmnb1 |
A |
G |
18: 56,873,793 (GRCm39) |
T400A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,010,538 (GRCm39) |
T724A |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,743,373 (GRCm39) |
N560D |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,460,352 (GRCm39) |
S324P |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,536,421 (GRCm39) |
|
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Slc7a1 |
A |
T |
5: 148,277,366 (GRCm39) |
V383E |
probably benign |
Het |
| Stx19 |
A |
G |
16: 62,642,406 (GRCm39) |
K74R |
probably benign |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Uap1 |
G |
A |
1: 169,976,843 (GRCm39) |
P452L |
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,600,401 (GRCm39) |
A452T |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,039,041 (GRCm39) |
S96P |
possibly damaging |
Het |
|
| Other mutations in St8sia5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:St8sia5
|
APN |
18 |
77,342,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01320:St8sia5
|
APN |
18 |
77,342,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01682:St8sia5
|
APN |
18 |
77,336,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01984:St8sia5
|
APN |
18 |
77,336,157 (GRCm39) |
missense |
probably benign |
0.03 |
|
ANU22:St8sia5
|
UTSW |
18 |
77,342,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:St8sia5
|
UTSW |
18 |
77,342,420 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0392:St8sia5
|
UTSW |
18 |
77,342,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:St8sia5
|
UTSW |
18 |
77,333,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1231:St8sia5
|
UTSW |
18 |
77,320,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1559:St8sia5
|
UTSW |
18 |
77,299,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2058:St8sia5
|
UTSW |
18 |
77,342,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:St8sia5
|
UTSW |
18 |
77,342,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:St8sia5
|
UTSW |
18 |
77,320,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4399:St8sia5
|
UTSW |
18 |
77,340,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:St8sia5
|
UTSW |
18 |
77,342,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5986:St8sia5
|
UTSW |
18 |
77,342,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6301:St8sia5
|
UTSW |
18 |
77,333,836 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7020:St8sia5
|
UTSW |
18 |
77,333,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7087:St8sia5
|
UTSW |
18 |
77,342,238 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7784:St8sia5
|
UTSW |
18 |
77,342,246 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8037:St8sia5
|
UTSW |
18 |
77,336,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8153:St8sia5
|
UTSW |
18 |
77,340,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8544:St8sia5
|
UTSW |
18 |
77,342,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:St8sia5
|
UTSW |
18 |
77,320,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8906:St8sia5
|
UTSW |
18 |
77,336,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8980:St8sia5
|
UTSW |
18 |
77,333,761 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9294:St8sia5
|
UTSW |
18 |
77,342,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAGAAATGCCACCTTCCTGG -3'
(R):5'- TCTCCGAGGGCATAGCATGGAAAC -3'
Sequencing Primer
(F):5'- gtgggaggagaaggggg -3'
(R):5'- TAGCATGGAAACCCGGCTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation