Incidental Mutation 'IGL00677:Spink11'
| ID |
10364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spink11
|
| Ensembl Gene |
ENSMUSG00000073573 |
| Gene Name |
serine peptidase inhibitor, Kazal type 11 |
| Synonyms |
9230112K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00677
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
44323116-44329244 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 44325701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097587]
|
| AlphaFold |
Q09TK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000097587
|
| SMART Domains |
Protein: ENSMUSP00000095194
Gene: ENSMUSG00000073573
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
KAZAL
|
63 |
111 |
7.29e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185266
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 8 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cyb5b |
A |
G |
8: 107,897,048 (GRCm39) |
D106G |
probably benign |
Het |
| Ecm2 |
G |
A |
13: 49,684,794 (GRCm39) |
E634K |
probably benign |
Het |
| Mgl2 |
T |
C |
11: 70,027,932 (GRCm39) |
V380A |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,631 (GRCm39) |
K1526* |
probably null |
Het |
| Naip6 |
G |
A |
13: 100,452,525 (GRCm39) |
R179C |
probably benign |
Het |
| Nin |
T |
A |
12: 70,073,634 (GRCm39) |
K1173I |
probably damaging |
Het |
| Nol4 |
G |
T |
18: 23,054,924 (GRCm39) |
P96T |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,284,438 (GRCm39) |
M231K |
possibly damaging |
Het |
|
| Other mutations in Spink11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1330:Spink11
|
UTSW |
18 |
44,329,195 (GRCm39) |
missense |
unknown |
|
|
R1973:Spink11
|
UTSW |
18 |
44,329,205 (GRCm39) |
missense |
unknown |
|
|
R2136:Spink11
|
UTSW |
18 |
44,323,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2968:Spink11
|
UTSW |
18 |
44,328,777 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5363:Spink11
|
UTSW |
18 |
44,328,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8558:Spink11
|
UTSW |
18 |
44,324,748 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation