Incidental Mutation 'IGL01305:St8sia5'
| ID |
73384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
St8sia5
|
| Ensembl Gene |
ENSMUSG00000025425 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
| Synonyms |
ST8SiaV, Siat8e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01305
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77342358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 320
(G320D)
|
| 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: G356D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: G356D
| 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: G320D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: G320D
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,797,915 (GRCm39) |
E663G |
possibly damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,879 (GRCm39) |
H525L |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,526,590 (GRCm39) |
V506E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,655,617 (GRCm39) |
E1101K |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 38,124,380 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,503 (GRCm39) |
H497Q |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,698,392 (GRCm39) |
E96G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,148,403 (GRCm39) |
T2653A |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,298,472 (GRCm39) |
I87F |
possibly damaging |
Het |
| Chi3l1 |
A |
G |
1: 134,110,554 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,218,978 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,349,590 (GRCm39) |
H934L |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,255,869 (GRCm39) |
T461I |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,429,475 (GRCm39) |
F183L |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,107,836 (GRCm39) |
|
probably null |
Het |
| Dusp16 |
A |
T |
6: 134,695,824 (GRCm39) |
S336T |
probably benign |
Het |
| F930017D23Rik |
T |
G |
10: 43,480,371 (GRCm39) |
|
noncoding transcript |
Het |
| Fasl |
A |
G |
1: 161,609,407 (GRCm39) |
V193A |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,423,175 (GRCm39) |
Y187H |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,311,784 (GRCm39) |
Q1423K |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,505,055 (GRCm39) |
T249A |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,915,354 (GRCm39) |
K637* |
probably null |
Het |
| Gm20479 |
G |
A |
7: 27,056,812 (GRCm39) |
R2525* |
probably null |
Het |
| Grm6 |
A |
T |
11: 50,750,346 (GRCm39) |
D503V |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,852,641 (GRCm39) |
R2214C |
probably benign |
Het |
| Micu2 |
T |
A |
14: 58,181,082 (GRCm39) |
D184V |
probably damaging |
Het |
| Nabp2 |
T |
A |
10: 128,244,631 (GRCm39) |
I52F |
probably damaging |
Het |
| Nat8f7 |
A |
T |
6: 85,684,570 (GRCm39) |
L90* |
probably null |
Het |
| Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,546 (GRCm39) |
N291S |
probably damaging |
Het |
| Pphln1 |
A |
G |
15: 93,386,985 (GRCm39) |
E273G |
probably damaging |
Het |
| Ppil1 |
C |
A |
17: 29,482,862 (GRCm39) |
V14F |
possibly damaging |
Het |
| Relt |
A |
T |
7: 100,500,905 (GRCm39) |
L28Q |
probably damaging |
Het |
| Rpl21 |
A |
G |
5: 146,770,996 (GRCm39) |
|
probably benign |
Het |
| Rrp36 |
A |
T |
17: 46,979,017 (GRCm39) |
|
probably benign |
Het |
| Skic8 |
C |
A |
9: 54,635,470 (GRCm39) |
V44L |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,911,670 (GRCm39) |
E582G |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,406 (GRCm39) |
N2K |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,583,045 (GRCm39) |
V612E |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 102,968,130 (GRCm39) |
S119G |
probably damaging |
Het |
| Washc5 |
T |
A |
15: 59,227,688 (GRCm39) |
K425* |
probably null |
Het |
| Wtap |
G |
T |
17: 13,186,782 (GRCm39) |
T255K |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,277,313 (GRCm39) |
V134A |
probably benign |
Het |
|
| Other mutations in St8sia5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation