Incidental Mutation 'IGL00580:Serpinb9'
| ID |
4322 |
| 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: 0.093)
|
| Stock # |
IGL00580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33187233-33201940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33190673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 50
(T50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006391]
[ENSMUST00000063191]
|
| AlphaFold |
O08797 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006391
AA Change: T50A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
AA Change: T50A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
6.04e-174 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063191
AA Change: T50A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
AA Change: T50A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
6.04e-174 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221299
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,845 (GRCm39) |
Y406F |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,557,788 (GRCm39) |
N786K |
probably benign |
Het |
| Clcnka |
C |
T |
4: 141,118,712 (GRCm39) |
W391* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,599,508 (GRCm39) |
S882T |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 95,994,826 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
C |
A |
17: 32,743,849 (GRCm39) |
Y342* |
probably null |
Het |
| Fancg |
A |
T |
4: 43,003,910 (GRCm39) |
C506* |
probably null |
Het |
| Grid2 |
A |
T |
6: 64,322,573 (GRCm39) |
L524F |
probably damaging |
Het |
| Haao |
C |
T |
17: 84,142,359 (GRCm39) |
|
probably benign |
Het |
| Il17re |
A |
G |
6: 113,446,560 (GRCm39) |
D256G |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,935,767 (GRCm39) |
F107L |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,355,691 (GRCm39) |
I232F |
probably benign |
Het |
| Kmt2b |
T |
A |
7: 30,285,938 (GRCm39) |
|
probably benign |
Het |
| Maoa |
T |
C |
X: 16,547,085 (GRCm39) |
V380A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,126,008 (GRCm39) |
T1121A |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,870 (GRCm39) |
T3878A |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,549,370 (GRCm39) |
R331W |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Psen1 |
C |
T |
12: 83,777,343 (GRCm39) |
S329F |
probably benign |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,773,501 (GRCm39) |
S1148T |
probably damaging |
Het |
| Zfp599 |
G |
T |
9: 22,160,768 (GRCm39) |
Q466K |
possibly damaging |
Het |
| Zfp964 |
A |
G |
8: 70,112,043 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03385:Serpinb9
|
APN |
13 |
33,191,979 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation