Incidental Mutation 'G4846:Spinkl'
| ID |
520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spinkl
|
| Ensembl Gene |
ENSMUSG00000053729 |
| Gene Name |
serine protease inhibitor, Kazal type-like |
| Synonyms |
9530002K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
G4846 (G3)
of strain
Worker
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44299423-44308141 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 44302173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066328]
|
| AlphaFold |
Q8CEK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066328
|
| SMART Domains |
Protein: ENSMUSP00000063376
Gene: ENSMUSG00000053729
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
KAZAL
|
38 |
87 |
2.86e-3 |
SMART |
|
| Coding Region Coverage |
|
| Het Detection Efficiency |
29.1% |
| Validation Efficiency |
90% (104/115) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,184,683 (GRCm39) |
I24V |
probably benign |
Het |
| Col4a2 |
T |
C |
8: 11,458,872 (GRCm39) |
|
probably benign |
Homo |
| Cyp3a13 |
C |
T |
5: 137,897,085 (GRCm39) |
E410K |
possibly damaging |
Het |
| Gm20518 |
A |
T |
16: 17,654,509 (GRCm39) |
|
probably benign |
Homo |
| Nbea |
T |
A |
3: 55,994,918 (GRCm39) |
D166V |
probably damaging |
Het |
| Or5au1 |
T |
A |
14: 52,273,434 (GRCm39) |
M45L |
probably benign |
Het |
| Or6c88 |
A |
T |
10: 129,407,039 (GRCm39) |
I172F |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,169,207 (GRCm39) |
D1330V |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,905,070 (GRCm39) |
S1742P |
probably damaging |
Homo |
| Samd4 |
T |
A |
14: 47,253,776 (GRCm39) |
I80N |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 86,071,018 (GRCm39) |
I1297N |
probably damaging |
Het |
|
| Other mutations in Spinkl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Spinkl
|
APN |
18 |
44,307,639 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2154:Spinkl
|
UTSW |
18 |
44,302,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3927:Spinkl
|
UTSW |
18 |
44,302,230 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3938:Spinkl
|
UTSW |
18 |
44,301,216 (GRCm39) |
missense |
probably benign |
|
|
R4366:Spinkl
|
UTSW |
18 |
44,307,650 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5999:Spinkl
|
UTSW |
18 |
44,301,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7578:Spinkl
|
UTSW |
18 |
44,301,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Spinkl
|
UTSW |
18 |
44,307,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7912:Spinkl
|
UTSW |
18 |
44,299,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9613:Spinkl
|
UTSW |
18 |
44,301,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Spinkl
|
UTSW |
18 |
44,307,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to T transversion at base pair 44328760 in the Genbank genomic region NC_000084 for the 9530002K18Rik gene on chromosome 18 (GTAATGACTC ->GTAATGGCTC). The mutation is located within intron 2 from the ATG exon, nine nucleotides from the previous exon. The 9530002K18Rik gene contains 5 total exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The 9530002K18Rik gene encodes a 90 amino acid serine protease inhibitor-like protein. The protein does not inhibit trypsin, chymotrypsin, subtilisin or elastase, but binds sperm and enhances sperm motility. It may act as a decapacitation factor, and suppresses BSA-stimulated sperm capacitation and blocks sperm-oocyte interactions in vitro. The protein contains a Kazal-like domain at residues 33-89 (Uniprot Q8CEK3).
|
| Posted On |
2010-11-02 |
Incidental Mutation