Incidental Mutation 'IGL03385:Serpinb9'
| ID |
420855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb9
|
| Ensembl Gene |
ENSMUSG00000045827 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9 |
| Synonyms |
ovalbumin, PI-9, Spi6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL03385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33187233-33201940 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 33191979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006391]
[ENSMUST00000063191]
|
| AlphaFold |
O08797 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006391
|
| SMART Domains |
Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
6.04e-174 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063191
|
| SMART Domains |
Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
6.04e-174 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mice show defective CTL immunity and clearance of LCMV. Following infection with LCMV or L. monocytogenes, mutant CTLs display a breakdown of cytotoxic granule integrity, increased cytoplasmic granzyme B, and reduced survival due to increased granzyme B-mediated apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
| Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
| Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
| Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,254 (GRCm39) |
V94A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
| Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
| Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,857,452 (GRCm39) |
I86V |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,855,952 (GRCm39) |
T546A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
| Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
| Ostm1 |
A |
C |
10: 42,574,140 (GRCm39) |
N123H |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
| Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,726,181 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
| Ttc4 |
A |
G |
4: 106,525,397 (GRCm39) |
S246P |
probably benign |
Het |
| Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
probably damaging |
Het |
|
| Other mutations in Serpinb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Serpinb9
|
APN |
13 |
33,190,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Serpinb9
|
UTSW |
13 |
33,194,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1586:Serpinb9
|
UTSW |
13 |
33,199,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3708:Serpinb9
|
UTSW |
13 |
33,192,002 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3853:Serpinb9
|
UTSW |
13 |
33,199,503 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3903:Serpinb9
|
UTSW |
13 |
33,194,793 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4117:Serpinb9
|
UTSW |
13 |
33,199,579 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4903:Serpinb9
|
UTSW |
13 |
33,192,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Serpinb9
|
UTSW |
13 |
33,192,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Serpinb9
|
UTSW |
13 |
33,192,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Serpinb9
|
UTSW |
13 |
33,190,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5463:Serpinb9
|
UTSW |
13 |
33,199,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6165:Serpinb9
|
UTSW |
13 |
33,192,807 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7510:Serpinb9
|
UTSW |
13 |
33,194,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7511:Serpinb9
|
UTSW |
13 |
33,192,054 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9069:Serpinb9
|
UTSW |
13 |
33,199,579 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9128:Serpinb9
|
UTSW |
13 |
33,190,686 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9238:Serpinb9
|
UTSW |
13 |
33,199,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9409:Serpinb9
|
UTSW |
13 |
33,192,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation