Incidental Mutation 'IGL02470:Serpinb1a'
| ID |
294692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb1a
|
| Ensembl Gene |
ENSMUSG00000044734 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 1a |
| Synonyms |
EIA, 1190005M04Rik, MNEI, LEI, ELANH2, M/NEI, ovalbumin |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33026075-33035168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33034376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 5
(S5N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076352]
[ENSMUST00000091668]
|
| AlphaFold |
Q9D154 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076352
AA Change: S5N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: S5N
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
379 |
1.19e-190 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091668
AA Change: S5N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734
AA Change: S5N
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
348 |
1.5e-151 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223016
|
| 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 proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
| Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Serpinb1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Serpinb1a
|
APN |
13 |
33,029,398 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03215:Serpinb1a
|
APN |
13 |
33,034,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Serpinb1a
|
UTSW |
13 |
33,034,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Serpinb1a
|
UTSW |
13 |
33,034,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Serpinb1a
|
UTSW |
13 |
33,032,754 (GRCm39) |
splice site |
probably benign |
|
|
R0335:Serpinb1a
|
UTSW |
13 |
33,032,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Serpinb1a
|
UTSW |
13 |
33,032,721 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0751:Serpinb1a
|
UTSW |
13 |
33,027,199 (GRCm39) |
missense |
probably benign |
|
|
R1184:Serpinb1a
|
UTSW |
13 |
33,027,199 (GRCm39) |
missense |
probably benign |
|
|
R2096:Serpinb1a
|
UTSW |
13 |
33,031,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Serpinb1a
|
UTSW |
13 |
33,034,397 (GRCm39) |
splice site |
probably benign |
|
|
R3432:Serpinb1a
|
UTSW |
13 |
33,026,842 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5247:Serpinb1a
|
UTSW |
13 |
33,034,389 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R5669:Serpinb1a
|
UTSW |
13 |
33,029,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6274:Serpinb1a
|
UTSW |
13 |
33,026,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Serpinb1a
|
UTSW |
13 |
33,034,308 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7358:Serpinb1a
|
UTSW |
13 |
33,026,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Serpinb1a
|
UTSW |
13 |
33,034,239 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7994:Serpinb1a
|
UTSW |
13 |
33,027,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Serpinb1a
|
UTSW |
13 |
33,026,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Serpinb1a
|
UTSW |
13 |
33,029,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9023:Serpinb1a
|
UTSW |
13 |
33,029,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9287:Serpinb1a
|
UTSW |
13 |
33,026,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Serpinb1a
|
UTSW |
13 |
33,026,910 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2015-04-16 |
Incidental Mutation