Incidental Mutation 'R4399:St8sia5'
| ID |
377819 |
| 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 |
041686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4399 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77340714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 191
(C191R)
|
| 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: C227R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: C227R
| 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: C191R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: C191R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
112 |
372 |
5.4e-79 |
PFAM |
|
| Meta Mutation Damage Score |
0.9365 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,827,211 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,652,031 (GRCm39) |
N612S |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,429,900 (GRCm39) |
A674V |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,238 (GRCm39) |
H1992R |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,724 (GRCm39) |
K597E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,164 (GRCm39) |
M1919L |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,198,559 (GRCm39) |
V788I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Foxred2 |
A |
C |
15: 77,837,558 (GRCm39) |
V226G |
possibly damaging |
Het |
| Foxred2 |
T |
C |
15: 77,839,880 (GRCm39) |
I137V |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,516 (GRCm39) |
N430K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,740,126 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
T |
A |
5: 104,457,148 (GRCm39) |
S86T |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,694 (GRCm39) |
S34T |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,484 (GRCm39) |
Y572* |
probably null |
Het |
| Mup18 |
C |
T |
4: 61,590,866 (GRCm39) |
G97D |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,242 (GRCm39) |
N303I |
probably benign |
Het |
| Or1p1 |
A |
G |
11: 74,179,682 (GRCm39) |
D70G |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4k40 |
T |
G |
2: 111,251,144 (GRCm39) |
I51L |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,353,534 (GRCm39) |
I454N |
possibly damaging |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,842,563 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,777,189 (GRCm39) |
S323T |
probably benign |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Setd1b |
C |
T |
5: 123,299,861 (GRCm39) |
|
probably benign |
Het |
| Sh2d3c |
G |
A |
2: 32,636,172 (GRCm39) |
G332D |
probably damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,243,007 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,121,791 (GRCm39) |
F73L |
possibly damaging |
Het |
| Sstr3 |
T |
G |
15: 78,424,324 (GRCm39) |
D141A |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,538 (GRCm39) |
N230S |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,060,872 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
A |
G |
19: 5,133,099 (GRCm39) |
S36P |
probably damaging |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,476 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,834 (GRCm39) |
S304P |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
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 |
|
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'- CTCCATGGTTGTAACTTGCGTG -3'
(R):5'- TCAGGACCAACCATGTTCCC -3'
Sequencing Primer
(F):5'- CCATGGTTGTAACTTGCGTGAGAAC -3'
(R):5'- CGGTGCTCAGTGGTCACAAAG -3'
|
| Posted On |
2016-04-07 |
Incidental Mutation