Incidental Mutation 'IGL01391:Serpinb1a'
ID |
79197 |
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? |
Probably non essential
(E-score: 0.249)
|
Stock # |
IGL01391
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33026075-33035168 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33029398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 210
(S210L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076352]
[ENSMUST00000091668]
|
AlphaFold |
Q9D154 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076352
AA Change: S210L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000075690 Gene: ENSMUSG00000044734 AA Change: S210L
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
379 |
1.19e-190 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091668
|
SMART Domains |
Protein: ENSMUSP00000089257 Gene: ENSMUSG00000044734
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
T |
A |
8: 23,289,663 (GRCm39) |
I147F |
probably benign |
Het |
Areg |
T |
A |
5: 91,288,954 (GRCm39) |
S87T |
probably damaging |
Het |
Arid1b |
T |
A |
17: 5,369,133 (GRCm39) |
|
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,156 (GRCm39) |
R8G |
probably benign |
Het |
Brms1 |
A |
G |
19: 5,096,723 (GRCm39) |
E135G |
possibly damaging |
Het |
Ccser1 |
A |
G |
6: 61,615,505 (GRCm39) |
|
probably benign |
Het |
Dock3 |
A |
T |
9: 106,784,433 (GRCm39) |
M258K |
possibly damaging |
Het |
Epb41l4a |
T |
G |
18: 33,934,678 (GRCm39) |
D562A |
possibly damaging |
Het |
Etaa1 |
G |
A |
11: 17,896,005 (GRCm39) |
T704I |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,376 (GRCm39) |
H972L |
probably damaging |
Het |
Foxn1 |
A |
G |
11: 78,252,320 (GRCm39) |
M356T |
probably damaging |
Het |
Gfral |
C |
A |
9: 76,072,107 (GRCm39) |
G388* |
probably null |
Het |
Gm12258 |
A |
G |
11: 58,739,520 (GRCm39) |
T3A |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,311 (GRCm39) |
N7S |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,881,746 (GRCm39) |
L765P |
probably damaging |
Het |
Jchain |
C |
T |
5: 88,669,383 (GRCm39) |
C90Y |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,607,983 (GRCm39) |
Y381C |
probably damaging |
Het |
Lhx6 |
A |
T |
2: 35,993,477 (GRCm39) |
C74S |
probably benign |
Het |
Magel2 |
A |
G |
7: 62,030,632 (GRCm39) |
S1179G |
unknown |
Het |
Mapre3 |
T |
C |
5: 31,022,241 (GRCm39) |
I236T |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,064,010 (GRCm39) |
|
probably null |
Het |
Med13 |
A |
T |
11: 86,219,323 (GRCm39) |
H374Q |
probably benign |
Het |
Meioc |
A |
G |
11: 102,565,113 (GRCm39) |
Y187C |
probably benign |
Het |
Myh1 |
G |
A |
11: 67,108,689 (GRCm39) |
M1368I |
probably benign |
Het |
Or14a258 |
A |
T |
7: 86,035,208 (GRCm39) |
I220N |
possibly damaging |
Het |
Or8b54 |
A |
G |
9: 38,686,826 (GRCm39) |
I92V |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,842,394 (GRCm39) |
Y1501H |
probably damaging |
Het |
Pigb |
T |
C |
9: 72,929,573 (GRCm39) |
T337A |
probably damaging |
Het |
Pls1 |
T |
C |
9: 95,655,751 (GRCm39) |
K334E |
probably benign |
Het |
Pramel51 |
C |
T |
12: 88,145,225 (GRCm39) |
V34I |
possibly damaging |
Het |
Rab3b |
T |
C |
4: 108,797,999 (GRCm39) |
C226R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,571,571 (GRCm39) |
I4889N |
possibly damaging |
Het |
Slc52a3 |
A |
G |
2: 151,849,522 (GRCm39) |
I390V |
probably benign |
Het |
Slc6a7 |
C |
A |
18: 61,136,382 (GRCm39) |
A340S |
probably damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,615 (GRCm39) |
Y379C |
probably damaging |
Het |
Tex261 |
A |
G |
6: 83,748,222 (GRCm39) |
V180A |
probably benign |
Het |
Tnnt1 |
C |
T |
7: 4,517,211 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,798,847 (GRCm39) |
T476A |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,852,288 (GRCm39) |
S891P |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,511,627 (GRCm39) |
D611E |
possibly damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,886,819 (GRCm39) |
T32A |
probably benign |
Het |
Vwde |
T |
G |
6: 13,190,526 (GRCm39) |
S522R |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,054,105 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
G |
T |
5: 37,128,907 (GRCm39) |
Q288K |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,618,699 (GRCm39) |
V120A |
probably damaging |
Het |
Zfp672 |
A |
G |
11: 58,208,192 (GRCm39) |
F43S |
probably damaging |
Het |
Znhit3 |
A |
T |
11: 84,802,283 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Serpinb1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02470:Serpinb1a
|
APN |
13 |
33,034,376 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-11-05 |