Incidental Mutation 'R5247:Serpinb1a'
| ID |
401207 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
042818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R5247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33026075-33035168 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 33034389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| 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: M1L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075690
Gene: ENSMUSG00000044734
AA Change: M1L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
379 |
1.19e-190 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091668
AA Change: M1L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089257
Gene: ENSMUSG00000044734
AA Change: M1L
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,719,343 (GRCm39) |
V502E |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,874 (GRCm39) |
L585* |
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,790,241 (GRCm39) |
S475P |
probably damaging |
Het |
| Cacng1 |
T |
C |
11: 107,607,105 (GRCm39) |
H38R |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,096,166 (GRCm39) |
L1644* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,304,946 (GRCm39) |
V2168A |
probably benign |
Het |
| Cnot4 |
C |
T |
6: 35,028,351 (GRCm39) |
V422I |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,838,013 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,993 (GRCm39) |
I680F |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,955,402 (GRCm39) |
C287S |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,401 (GRCm39) |
D133E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,524 (GRCm39) |
L52P |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,855,126 (GRCm39) |
E99G |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,648,794 (GRCm39) |
I1574L |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,240,339 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Hck |
A |
T |
2: 152,976,615 (GRCm39) |
K250* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,341,833 (GRCm39) |
E1874G |
probably benign |
Het |
| Igf2 |
G |
T |
7: 142,207,668 (GRCm39) |
A143D |
possibly damaging |
Het |
| Isg20l2 |
A |
G |
3: 87,838,920 (GRCm39) |
N44D |
possibly damaging |
Het |
| Kdm7a |
T |
A |
6: 39,121,390 (GRCm39) |
Q855L |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,815,507 (GRCm39) |
S434P |
possibly damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,425 (GRCm39) |
N119K |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,203,706 (GRCm39) |
M375V |
unknown |
Het |
| Lpcat4 |
A |
G |
2: 112,072,860 (GRCm39) |
H173R |
possibly damaging |
Het |
| Mapk13 |
A |
T |
17: 28,996,725 (GRCm39) |
Q264L |
probably benign |
Het |
| Mrps18c |
C |
G |
5: 100,946,659 (GRCm39) |
C8W |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nlrp4b |
T |
A |
7: 10,448,145 (GRCm39) |
I116N |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,504 (GRCm39) |
T161A |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,610,778 (GRCm39) |
F101Y |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,316,098 (GRCm39) |
H679Q |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,352,950 (GRCm39) |
S839C |
probably damaging |
Het |
| Rps19 |
T |
A |
7: 24,584,878 (GRCm39) |
S36T |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,067,183 (GRCm39) |
M152K |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Stx18 |
A |
T |
5: 38,263,977 (GRCm39) |
Y141F |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,382,111 (GRCm39) |
|
probably null |
Het |
| Tle7 |
T |
C |
8: 110,837,209 (GRCm39) |
F299S |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,571 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,558,766 (GRCm39) |
T29705M |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
G |
9: 108,373,264 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2016-07-06 |
Incidental Mutation