Incidental Mutation 'R6683:St8sia4'
| ID |
527563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia4
|
| Ensembl Gene |
ENSMUSG00000040710 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
| Synonyms |
ST8SiaIV, PST, Siat8d, PST-1 |
| MMRRC Submission |
044802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
95587682-95667571 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95653699 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 106
(D106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043336]
[ENSMUST00000189556]
|
| AlphaFold |
Q64692 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043336
AA Change: D106G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043477
Gene: ENSMUSG00000040710
AA Change: D106G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
94 |
354 |
2.2e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187936
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189556
AA Change: D106G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140534
Gene: ENSMUSG00000040710
AA Change: D106G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
90 |
266 |
2.2e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| 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 catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null adult mice exhibit impaired long term potentiation and impaired long term depression in hippocampal CA1 synapses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
C |
1: 74,282,445 (GRCm38) |
E169G |
possibly damaging |
Het |
| Acat2 |
G |
A |
17: 12,943,927 (GRCm38) |
R377C |
probably benign |
Het |
| Adgrg6 |
A |
G |
10: 14,456,167 (GRCm38) |
V398A |
probably damaging |
Het |
| BC025920 |
A |
G |
10: 81,609,301 (GRCm38) |
H86R |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,888,227 (GRCm38) |
T88A |
probably damaging |
Het |
| Creb3l4 |
T |
A |
3: 90,237,805 (GRCm38) |
T347S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,843,311 (GRCm38) |
V180A |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,886,189 (GRCm38) |
V273A |
probably damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,900,353 (GRCm38) |
R78W |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,998,004 (GRCm38) |
T357A |
probably benign |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,697,561 (GRCm38) |
|
probably benign |
Het |
| Ly6d |
A |
T |
15: 74,762,450 (GRCm38) |
V97D |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,892,312 (GRCm38) |
I115T |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,751,477 (GRCm38) |
V173I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,569,178 (GRCm38) |
S327P |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,771,721 (GRCm38) |
R20G |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,199,195 (GRCm38) |
T83I |
probably benign |
Het |
| Nploc4 |
A |
G |
11: 120,383,330 (GRCm38) |
S546P |
probably damaging |
Het |
| Or1e1d-ps1 |
A |
G |
11: 73,928,113 (GRCm38) |
Y36C |
probably damaging |
Het |
| Or51g2 |
C |
T |
7: 102,973,713 (GRCm38) |
R93Q |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,975,968 (GRCm38) |
V10I |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,862,650 (GRCm38) |
S292G |
probably damaging |
Het |
| Panx1 |
T |
C |
9: 15,008,011 (GRCm38) |
E184G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,834,677 (GRCm38) |
Y1808C |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 134,786,593 (GRCm38) |
S21C |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,498,431 (GRCm38) |
N103D |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,727,251 (GRCm38) |
|
probably null |
Het |
| Rapgef4 |
A |
T |
2: 72,054,779 (GRCm38) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,147,926 (GRCm38) |
S1286P |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,534,826 (GRCm38) |
V291A |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,119,637 (GRCm38) |
M117T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,120,843 (GRCm38) |
I485T |
probably damaging |
Het |
| Trdc |
T |
C |
14: 54,144,235 (GRCm38) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,710,660 (GRCm38) |
L33994P |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,184,225 (GRCm38) |
K799N |
probably damaging |
Het |
| Zfp42 |
G |
A |
8: 43,296,056 (GRCm38) |
T136M |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 136,982,633 (GRCm38) |
S109T |
probably benign |
Het |
|
| Other mutations in St8sia4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01566:St8sia4
|
APN |
1 |
95,653,757 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02109:St8sia4
|
APN |
1 |
95,660,892 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL03117:St8sia4
|
APN |
1 |
95,591,783 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03280:St8sia4
|
APN |
1 |
95,653,774 (GRCm38) |
splice site |
probably benign |
|
|
IGL03328:St8sia4
|
APN |
1 |
95,660,870 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0336:St8sia4
|
UTSW |
1 |
95,653,558 (GRCm38) |
missense |
probably benign |
0.36 |
|
R0433:St8sia4
|
UTSW |
1 |
95,591,704 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1217:St8sia4
|
UTSW |
1 |
95,653,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1721:St8sia4
|
UTSW |
1 |
95,653,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1752:St8sia4
|
UTSW |
1 |
95,591,812 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1891:St8sia4
|
UTSW |
1 |
95,591,708 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1909:St8sia4
|
UTSW |
1 |
95,627,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2098:St8sia4
|
UTSW |
1 |
95,653,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2322:St8sia4
|
UTSW |
1 |
95,653,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4094:St8sia4
|
UTSW |
1 |
95,627,686 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4365:St8sia4
|
UTSW |
1 |
95,591,792 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4852:St8sia4
|
UTSW |
1 |
95,660,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4988:St8sia4
|
UTSW |
1 |
95,591,797 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5074:St8sia4
|
UTSW |
1 |
95,667,185 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5220:St8sia4
|
UTSW |
1 |
95,627,735 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5611:St8sia4
|
UTSW |
1 |
95,627,684 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5970:St8sia4
|
UTSW |
1 |
95,653,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6027:St8sia4
|
UTSW |
1 |
95,653,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7498:St8sia4
|
UTSW |
1 |
95,591,693 (GRCm38) |
missense |
probably benign |
|
|
R7937:St8sia4
|
UTSW |
1 |
95,653,595 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8775:St8sia4
|
UTSW |
1 |
95,591,747 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8775-TAIL:St8sia4
|
UTSW |
1 |
95,591,747 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9095:St8sia4
|
UTSW |
1 |
95,591,800 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9252:St8sia4
|
UTSW |
1 |
95,627,507 (GRCm38) |
frame shift |
probably null |
|
|
R9433:St8sia4
|
UTSW |
1 |
95,627,639 (GRCm38) |
missense |
|
|
|
X0063:St8sia4
|
UTSW |
1 |
95,591,923 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Z1177:St8sia4
|
UTSW |
1 |
95,667,456 (GRCm38) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAAGAACAGCAGGATGC -3'
(R):5'- CCAGCTGACAATTTAAGAGCAG -3'
Sequencing Primer
(F):5'- GCAGGATGCTCACCTTATTACAAAG -3'
(R):5'- GCTGACAATTTAAGAGCAGTAGTTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation