Incidental Mutation 'R1231:St8sia5'
ID |
152311 |
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 |
039300-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R1231 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77320502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 49
(Y49H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075290]
[ENSMUST00000079618]
|
AlphaFold |
P70126 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075290
AA Change: Y85H
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074764 Gene: ENSMUSG00000025425 AA Change: Y85H
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: Y49H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078566 Gene: ENSMUSG00000025425 AA Change: Y49H
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: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
Cabp5 |
T |
C |
7: 13,139,350 (GRCm39) |
I125T |
probably damaging |
Het |
Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
Mtmr9 |
A |
T |
14: 63,765,640 (GRCm39) |
N418K |
possibly damaging |
Het |
Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
Or2t1 |
A |
T |
14: 14,328,515 (GRCm38) |
M135L |
probably benign |
Het |
Psg16 |
T |
A |
7: 16,829,230 (GRCm39) |
Y271* |
probably null |
Het |
Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
probably 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 |
R0696:St8sia5
|
UTSW |
18 |
77,342,160 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCTGTGCCTGTCTTTCAATGGTGAC -3'
(R):5'- GGTAACTGAGCTGGGGACTTCAATG -3'
Sequencing Primer
(F):5'- GAAGTGGACTTTGTTCCTACAC -3'
(R):5'- CTCAGTCAGCAGACATGACTTTG -3'
|
Posted On |
2014-01-29 |