Incidental Mutation 'R8858:St8sia5'
| ID |
675490 |
| 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 |
068738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8858 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77320511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 88
(P88S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075290]
[ENSMUST00000079618]
|
| AlphaFold |
P70126 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075290
AA Change: P88S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: P88S
| 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 benign
Transcript: ENSMUST00000079618
AA Change: P52S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: P52S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,638,338 (GRCm39) |
Q91R |
probably benign |
Het |
| Abca16 |
G |
T |
7: 120,052,327 (GRCm39) |
C465F |
probably benign |
Het |
| Amfr |
A |
G |
8: 94,714,070 (GRCm39) |
Y254H |
probably damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,093,018 (GRCm39) |
E181G |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,465,971 (GRCm39) |
E1066G |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,964 (GRCm39) |
V100A |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,130,270 (GRCm39) |
M54V |
probably benign |
Het |
| Ciao2a |
T |
C |
9: 66,039,824 (GRCm39) |
I47T |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,120,318 (GRCm39) |
V1829A |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,062,227 (GRCm39) |
T10I |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,399,669 (GRCm39) |
N173S |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Dnajc17 |
T |
C |
2: 119,011,445 (GRCm39) |
T162A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,666,339 (GRCm39) |
E695G |
possibly damaging |
Het |
| Gadl1 |
A |
T |
9: 115,835,669 (GRCm39) |
S366C |
probably damaging |
Het |
| Gbp11 |
C |
A |
5: 105,473,392 (GRCm39) |
E454* |
probably null |
Het |
| Gm32742 |
T |
A |
9: 51,062,256 (GRCm39) |
T691S |
probably benign |
Het |
| Gsdma3 |
C |
A |
11: 98,520,695 (GRCm39) |
Q109K |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,548,576 (GRCm39) |
V482E |
probably damaging |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,083 (GRCm39) |
Y113F |
probably benign |
Het |
| Lactb |
G |
T |
9: 66,863,182 (GRCm39) |
Y477* |
probably null |
Het |
| Lgr6 |
T |
C |
1: 134,923,849 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,560,827 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
C |
17: 12,490,759 (GRCm39) |
L224R |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,217 (GRCm39) |
C667S |
unknown |
Het |
| Myh8 |
A |
G |
11: 67,192,820 (GRCm39) |
E1537G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,262,965 (GRCm39) |
|
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,644,554 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
G |
16: 19,443,109 (GRCm39) |
V247A |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,123,503 (GRCm39) |
V297M |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,532,857 (GRCm39) |
D127E |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,519,329 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
A |
G |
1: 34,502,196 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,526,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,102,285 (GRCm39) |
|
probably null |
Het |
| Rnase9 |
G |
A |
14: 51,276,766 (GRCm39) |
P71S |
|
Het |
| Ryr1 |
A |
G |
7: 28,808,638 (GRCm39) |
L485P |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,118,302 (GRCm39) |
D476G |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,850 (GRCm39) |
Y170C |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,423 (GRCm39) |
S354P |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,854,497 (GRCm39) |
|
probably null |
Het |
| Tnfrsf13b |
A |
G |
11: 61,038,363 (GRCm39) |
I215M |
possibly damaging |
Het |
| Unc13d |
G |
T |
11: 115,953,618 (GRCm39) |
L1052M |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,466,833 (GRCm39) |
D260G |
probably benign |
Het |
| Wdr77 |
T |
C |
3: 105,868,978 (GRCm39) |
V116A |
probably damaging |
Het |
| Zfp560 |
A |
G |
9: 20,260,403 (GRCm39) |
I153T |
probably benign |
Het |
| Zfp672 |
G |
A |
11: 58,208,145 (GRCm39) |
R59C |
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 |
|
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 |
|
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'- AAGTGGACTTTGTTCCTACACTTG -3'
(R):5'- TGCCCCATGGAAGGTCTAAC -3'
Sequencing Primer
(F):5'- GTTCCTACACTTGCTTATAGTGC -3'
(R):5'- GAAGGTCTAACTTTCCGTCTGTGAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation