Incidental Mutation 'R2433:St8sia3'
| ID |
250508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St8sia3
|
| Ensembl Gene |
ENSMUSG00000056812 |
| Gene Name |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
| Synonyms |
Siat8c, ST8SiaIII |
| MMRRC Submission |
040394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R2433 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
64387430-64409217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64402787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 198
(H198L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025477]
[ENSMUST00000139622]
|
| AlphaFold |
Q64689 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025477
AA Change: H198L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000025477
Gene: ENSMUSG00000056812
AA Change: H198L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
113 |
377 |
8.4e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139622
AA Change: H142L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121367
Gene: ENSMUSG00000056812
AA Change: H142L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_29
|
53 |
229 |
2e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140903
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a4 |
A |
G |
6: 38,058,964 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,801,597 (GRCm39) |
K573E |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,870,247 (GRCm39) |
D244E |
probably benign |
Het |
| Dhrs11 |
C |
A |
11: 84,719,745 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,913,042 (GRCm39) |
G248R |
probably damaging |
Het |
| Fam120a |
A |
C |
13: 49,087,444 (GRCm39) |
D305E |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,802,393 (GRCm39) |
L97P |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,064,885 (GRCm39) |
S3033C |
possibly damaging |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,559 (GRCm39) |
T94A |
probably benign |
Het |
| Krtap16-3 |
T |
C |
16: 88,759,533 (GRCm39) |
Y60C |
unknown |
Het |
| Lrp4 |
G |
A |
2: 91,336,360 (GRCm39) |
V1724I |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,892,158 (GRCm39) |
Y1634C |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,160 (GRCm39) |
Y96C |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,929,912 (GRCm39) |
|
probably null |
Het |
| Pde3b |
T |
C |
7: 114,126,072 (GRCm39) |
C769R |
probably benign |
Het |
| Phlpp2 |
T |
G |
8: 110,666,634 (GRCm39) |
C1054W |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,311,178 (GRCm39) |
V193D |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,127 (GRCm39) |
L433S |
probably benign |
Het |
| Sema4f |
A |
T |
6: 82,916,490 (GRCm39) |
C13S |
possibly damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,072,944 (GRCm39) |
L689P |
probably benign |
Het |
| Slc7a6os |
T |
C |
8: 106,931,003 (GRCm39) |
N211S |
possibly damaging |
Het |
| Smurf2 |
T |
A |
11: 106,759,490 (GRCm39) |
I69F |
probably benign |
Het |
| Tacc3 |
A |
G |
5: 33,829,083 (GRCm39) |
K594R |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,544 (GRCm39) |
I1396K |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,876 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,193 (GRCm39) |
Y351* |
probably null |
Het |
|
| Other mutations in St8sia3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02162:St8sia3
|
APN |
18 |
64,398,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02682:St8sia3
|
APN |
18 |
64,402,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0088:St8sia3
|
UTSW |
18 |
64,400,056 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0784:St8sia3
|
UTSW |
18 |
64,404,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:St8sia3
|
UTSW |
18 |
64,402,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:St8sia3
|
UTSW |
18 |
64,402,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2283:St8sia3
|
UTSW |
18 |
64,404,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:St8sia3
|
UTSW |
18 |
64,402,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:St8sia3
|
UTSW |
18 |
64,398,634 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4798:St8sia3
|
UTSW |
18 |
64,404,820 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6700:St8sia3
|
UTSW |
18 |
64,398,452 (GRCm39) |
unclassified |
probably benign |
|
|
R6957:St8sia3
|
UTSW |
18 |
64,404,853 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7016:St8sia3
|
UTSW |
18 |
64,402,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7337:St8sia3
|
UTSW |
18 |
64,402,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:St8sia3
|
UTSW |
18 |
64,404,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:St8sia3
|
UTSW |
18 |
64,400,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9431:St8sia3
|
UTSW |
18 |
64,398,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATAACTTCCGGTCCCTGC -3'
(R):5'- ACTGGACCTTTAACTGACCTCTG -3'
Sequencing Primer
(F):5'- TGCTCCCAGATGTGTCGC -3'
(R):5'- AAATCCACTAGCGTTCTCGTTACAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation