Incidental Mutation 'R7020:St8sia5'
| ID |
545591 |
| 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 |
045121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77273529-77343146 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77333876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 178
(I178T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075290]
[ENSMUST00000079618]
|
| AlphaFold |
P70126 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075290
AA Change: I178T
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: I178T
| 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 |
possibly damaging
Transcript: ENSMUST00000079618
AA Change: I142T
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: I142T
| 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 |
0.5646 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,634,975 (GRCm39) |
G188R |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,645,127 (GRCm39) |
Y384C |
probably damaging |
Het |
| Cd209b |
T |
A |
8: 3,968,783 (GRCm39) |
E282V |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,804,077 (GRCm39) |
L1002W |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,275,754 (GRCm39) |
V292A |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,325 (GRCm39) |
I107T |
possibly damaging |
Het |
| Cntrob |
A |
G |
11: 69,193,918 (GRCm39) |
|
probably null |
Het |
| Crb1 |
A |
T |
1: 139,159,341 (GRCm39) |
S1294T |
possibly damaging |
Het |
| Cst13 |
T |
G |
2: 148,665,129 (GRCm39) |
Y41* |
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,139 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,123,619 (GRCm39) |
L427I |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,221,482 (GRCm39) |
S340P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,319 (GRCm39) |
C195S |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,195 (GRCm39) |
T100A |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,038,300 (GRCm39) |
S205L |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,231,795 (GRCm39) |
*424C |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,397,540 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,628 (GRCm39) |
K563* |
probably null |
Het |
| Myh7b |
T |
C |
2: 155,473,671 (GRCm39) |
I1568T |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,757,493 (GRCm39) |
W1114* |
probably null |
Het |
| Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,586 (GRCm39) |
T288A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,331,594 (GRCm39) |
G859R |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,864 (GRCm39) |
R326W |
probably damaging |
Het |
| Or2a7 |
T |
C |
6: 43,151,096 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5g23 |
A |
G |
2: 85,438,976 (GRCm39) |
S93P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,610,261 (GRCm39) |
P23L |
probably damaging |
Het |
| Pappa2 |
C |
A |
1: 158,675,579 (GRCm39) |
V1056F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,490,428 (GRCm39) |
L25S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,277,743 (GRCm39) |
H860R |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,541 (GRCm39) |
H902Q |
probably damaging |
Het |
| Ptgs1 |
T |
G |
2: 36,141,041 (GRCm39) |
L496R |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,638 (GRCm39) |
Y1381* |
probably null |
Het |
| Rtl1 |
T |
C |
12: 109,558,749 (GRCm39) |
Q1030R |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,583,423 (GRCm39) |
Y2816F |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,153 (GRCm39) |
T340A |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,961,421 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
C |
1: 174,036,918 (GRCm39) |
L1143P |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,433,388 (GRCm39) |
N517S |
possibly damaging |
Het |
| Tcp11 |
A |
G |
17: 28,290,679 (GRCm39) |
Y227H |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,343,954 (GRCm39) |
D1411G |
probably benign |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,336 (GRCm39) |
L580P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,413,657 (GRCm39) |
E1200G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,355,913 (GRCm39) |
V3558A |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,903,463 (GRCm39) |
N1082S |
probably benign |
Het |
| Zbtb49 |
A |
T |
5: 38,370,711 (GRCm39) |
L390* |
probably null |
Het |
| Zfp639 |
C |
A |
3: 32,574,261 (GRCm39) |
D295E |
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 |
|
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 |
|
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'- TTGGCAGGCAGAGAGTTTCC -3'
(R):5'- AGCTAGATGGTATTGTCACCCC -3'
Sequencing Primer
(F):5'- CAGGCAGAGAGTTTCCCAGTAG -3'
(R):5'- AGGCAGGACTCCTCTGGAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation