Incidental Mutation 'IGL01758:Serpinb13'
| ID |
153462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb13
|
| Ensembl Gene |
ENSMUSG00000048775 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 |
| Synonyms |
HURPIN, headpin, HUR7, PI13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01758
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
106980984-107001195 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 107000754 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 368
(F368C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027564]
[ENSMUST00000136766]
|
| AlphaFold |
Q8CDC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027564
AA Change: F368C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027564
Gene: ENSMUSG00000048775
AA Change: F368C
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
389 |
1.55e-144 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136766
|
| SMART Domains |
Protein: ENSMUSP00000118572
Gene: ENSMUSG00000048775
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
6 |
94 |
1.1e-16 |
PFAM |
|
| Coding Region Coverage |
|
| 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 is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 120,010,819 (GRCm38) |
D860G |
possibly damaging |
Het |
| Acot7 |
T |
C |
4: 152,217,793 (GRCm38) |
C121R |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,112,924 (GRCm38) |
H193L |
probably benign |
Het |
| AI661453 |
T |
A |
17: 47,466,623 (GRCm38) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,826,610 (GRCm38) |
|
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,212,829 (GRCm38) |
|
probably benign |
Het |
| Capn12 |
G |
A |
7: 28,886,623 (GRCm38) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,474,183 (GRCm38) |
Q713R |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,953,580 (GRCm38) |
L103Q |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm38) |
T475S |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,296,209 (GRCm38) |
D1270E |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 106,904,793 (GRCm38) |
K275E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,280,714 (GRCm38) |
D426G |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,238,248 (GRCm38) |
S62P |
probably damaging |
Het |
| Olfr275 |
G |
T |
4: 52,825,468 (GRCm38) |
E24* |
probably null |
Het |
| Olfr914 |
T |
A |
9: 38,607,293 (GRCm38) |
I276K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 150,101,989 (GRCm38) |
|
probably null |
Het |
| Rxfp1 |
T |
A |
3: 79,652,216 (GRCm38) |
I433F |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,303,215 (GRCm38) |
|
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,541,461 (GRCm38) |
S80R |
probably damaging |
Het |
| Spats2l |
G |
T |
1: 57,879,556 (GRCm38) |
V30L |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,136,921 (GRCm38) |
E195G |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,844,958 (GRCm38) |
|
probably benign |
Het |
| Tmem165 |
A |
G |
5: 76,204,163 (GRCm38) |
T164A |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,486,045 (GRCm38) |
|
probably null |
Het |
| Trip10 |
T |
A |
17: 57,261,409 (GRCm38) |
V405E |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,152,013 (GRCm38) |
C28* |
probably null |
Het |
| Wdr60 |
G |
A |
12: 116,218,798 (GRCm38) |
P728L |
possibly damaging |
Het |
| Zbtb8a |
C |
T |
4: 129,357,847 (GRCm38) |
C277Y |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,979,526 (GRCm38) |
F1705S |
probably damaging |
Het |
|
| Other mutations in Serpinb13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00558:Serpinb13
|
APN |
1 |
106,996,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02078:Serpinb13
|
APN |
1 |
106,998,958 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02183:Serpinb13
|
APN |
1 |
106,998,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0683:Serpinb13
|
UTSW |
1 |
106,999,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1263:Serpinb13
|
UTSW |
1 |
107,000,736 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1535:Serpinb13
|
UTSW |
1 |
106,982,156 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R1929:Serpinb13
|
UTSW |
1 |
106,999,026 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2271:Serpinb13
|
UTSW |
1 |
106,999,026 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2655:Serpinb13
|
UTSW |
1 |
107,000,427 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3115:Serpinb13
|
UTSW |
1 |
106,982,838 (GRCm38) |
missense |
probably null |
0.15 |
|
R3418:Serpinb13
|
UTSW |
1 |
106,998,927 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3419:Serpinb13
|
UTSW |
1 |
106,998,927 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3883:Serpinb13
|
UTSW |
1 |
106,998,572 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4664:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4666:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4689:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4690:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4725:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4728:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4847:Serpinb13
|
UTSW |
1 |
106,982,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5249:Serpinb13
|
UTSW |
1 |
106,998,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5501:Serpinb13
|
UTSW |
1 |
106,982,185 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5507:Serpinb13
|
UTSW |
1 |
106,998,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6015:Serpinb13
|
UTSW |
1 |
107,000,607 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6363:Serpinb13
|
UTSW |
1 |
107,000,774 (GRCm38) |
nonsense |
probably null |
|
|
R6720:Serpinb13
|
UTSW |
1 |
106,994,062 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6847:Serpinb13
|
UTSW |
1 |
106,998,933 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7237:Serpinb13
|
UTSW |
1 |
106,998,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8907:Serpinb13
|
UTSW |
1 |
107,000,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8966:Serpinb13
|
UTSW |
1 |
107,000,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9011:Serpinb13
|
UTSW |
1 |
106,995,789 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9350:Serpinb13
|
UTSW |
1 |
106,995,832 (GRCm38) |
nonsense |
probably null |
|
|
R9375:Serpinb13
|
UTSW |
1 |
106,982,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9774:Serpinb13
|
UTSW |
1 |
106,995,849 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Serpinb13
|
UTSW |
1 |
106,982,303 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-02-04 |
Incidental Mutation