Incidental Mutation 'R8199:St3gal5'
| ID |
635585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St3gal5
|
| Ensembl Gene |
ENSMUSG00000056091 |
| Gene Name |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
| Synonyms |
GM3 synthase, GM3-specific sialytransferase, 3S-T, [a]2, ST3Gal V, mST3Gal V, Siat9 |
| MMRRC Submission |
067622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
72074576-72131555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72119175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 123
(Y123H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069994]
[ENSMUST00000114112]
[ENSMUST00000188366]
|
| AlphaFold |
O88829 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069994
AA Change: Y123H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070414
Gene: ENSMUSG00000056091
AA Change: Y123H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
141 |
411 |
3e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114112
AA Change: Y96H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109747
Gene: ENSMUSG00000056091
AA Change: Y96H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
111 |
385 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188366
AA Change: Y96H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene leads to inability to synthesize GM3 ganglioside. Homozygotes for a null allele exhibit enhanced sensitivity to insulin. Homozygotes for a different null allele show resistance to botulinum neurotoxin type C. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
| 4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
| Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
| Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
| Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
| Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
| Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
| Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
| Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
| Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
| Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
| Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
| Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
| Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
| Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
| Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
| Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
| Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
Het |
|
| Other mutations in St3gal5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02137:St3gal5
|
APN |
6 |
72,105,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02277:St3gal5
|
APN |
6 |
72,119,184 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02756:St3gal5
|
APN |
6 |
72,126,157 (GRCm39) |
missense |
probably null |
0.83 |
|
IGL02904:St3gal5
|
APN |
6 |
72,124,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0107:St3gal5
|
UTSW |
6 |
72,119,133 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1605:St3gal5
|
UTSW |
6 |
72,119,272 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1854:St3gal5
|
UTSW |
6 |
72,109,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2875:St3gal5
|
UTSW |
6 |
72,124,114 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3692:St3gal5
|
UTSW |
6 |
72,126,013 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5071:St3gal5
|
UTSW |
6 |
72,109,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:St3gal5
|
UTSW |
6 |
72,126,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:St3gal5
|
UTSW |
6 |
72,130,446 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8085:St3gal5
|
UTSW |
6 |
72,074,925 (GRCm39) |
missense |
unknown |
|
|
R8251:St3gal5
|
UTSW |
6 |
72,126,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8294:St3gal5
|
UTSW |
6 |
72,074,816 (GRCm39) |
missense |
|
|
|
R8332:St3gal5
|
UTSW |
6 |
72,119,165 (GRCm39) |
nonsense |
probably null |
|
|
R8410:St3gal5
|
UTSW |
6 |
72,119,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8730:St3gal5
|
UTSW |
6 |
72,130,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:St3gal5
|
UTSW |
6 |
72,119,301 (GRCm39) |
nonsense |
probably null |
|
|
R9599:St3gal5
|
UTSW |
6 |
72,130,580 (GRCm39) |
missense |
probably benign |
0.30 |
|
RF060:St3gal5
|
UTSW |
6 |
72,074,836 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATATGGCCTTCTGGTTCCTG -3'
(R):5'- TGTTCAGGAAAGTCATGTTCGG -3'
Sequencing Primer
(F):5'- GTTCCTGCCCATTCCTGAGAAAAC -3'
(R):5'- AAGTCATGTTCGGGCAGCATATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation