Incidental Mutation 'IGL01721:Serpinb2'
ID |
105117 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb2
|
Ensembl Gene |
ENSMUSG00000062345 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 2 |
Synonyms |
ovalbumin, Planh2, PAI-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01721
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107443333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 44
(L44P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
|
AlphaFold |
P12388 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009356
AA Change: L44P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000009356 Gene: ENSMUSG00000062345 AA Change: L44P
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064916
AA Change: L44P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000065277 Gene: ENSMUSG00000062345 AA Change: L44P
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene leads to a slight to mild reduction in platelet, lymphocyte, neutrophil, and monocyte cell number. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,023,453 (GRCm39) |
M51V |
possibly damaging |
Het |
Acad8 |
A |
G |
9: 26,903,563 (GRCm39) |
|
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,638,855 (GRCm39) |
V53A |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,722,624 (GRCm39) |
T298A |
probably benign |
Het |
Ccdc185 |
C |
T |
1: 182,576,543 (GRCm39) |
E49K |
possibly damaging |
Het |
Cfhr2 |
A |
G |
1: 139,741,352 (GRCm39) |
S208P |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,990,430 (GRCm39) |
Y1661H |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,085,367 (GRCm39) |
H435R |
probably benign |
Het |
Cog8 |
A |
G |
8: 107,780,697 (GRCm39) |
V187A |
probably benign |
Het |
Col24a1 |
A |
G |
3: 145,244,322 (GRCm39) |
H1532R |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,836,518 (GRCm39) |
Y336C |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,846,198 (GRCm39) |
Y444* |
probably null |
Het |
Egf |
A |
T |
3: 129,491,371 (GRCm39) |
C374* |
probably null |
Het |
Eif2b3 |
C |
T |
4: 116,916,001 (GRCm39) |
H203Y |
probably damaging |
Het |
Erbb4 |
A |
G |
1: 68,293,722 (GRCm39) |
V723A |
possibly damaging |
Het |
Fbxo21 |
T |
C |
5: 118,126,855 (GRCm39) |
I202T |
probably benign |
Het |
Gbp6 |
T |
C |
5: 105,422,073 (GRCm39) |
M544V |
probably benign |
Het |
Gm10750 |
T |
C |
2: 148,857,964 (GRCm39) |
T96A |
unknown |
Het |
Gm8232 |
A |
T |
14: 44,674,640 (GRCm39) |
|
probably null |
Het |
Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
T |
C |
11: 98,528,782 (GRCm39) |
V412A |
possibly damaging |
Het |
Hs6st1 |
A |
T |
1: 36,108,016 (GRCm39) |
H93L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,372,277 (GRCm39) |
E77K |
probably benign |
Het |
Ing3 |
T |
A |
6: 21,968,879 (GRCm39) |
|
probably benign |
Het |
Ints6 |
T |
C |
14: 62,951,188 (GRCm39) |
I280M |
probably damaging |
Het |
Kazn |
C |
A |
4: 141,886,354 (GRCm39) |
|
probably null |
Het |
Klhl20 |
T |
C |
1: 160,923,157 (GRCm39) |
Y13C |
probably damaging |
Het |
Krtap26-1 |
G |
A |
16: 88,444,060 (GRCm39) |
P187L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,765,720 (GRCm39) |
I1329K |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,200,984 (GRCm39) |
D223G |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,128,001 (GRCm39) |
E124G |
probably damaging |
Het |
Nfat5 |
G |
A |
8: 108,071,611 (GRCm39) |
|
probably null |
Het |
Nkain1 |
A |
G |
4: 130,532,134 (GRCm38) |
F184L |
probably benign |
Het |
Or8k25 |
T |
C |
2: 86,243,677 (GRCm39) |
T240A |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,719,491 (GRCm39) |
F110L |
probably damaging |
Het |
Rfx6 |
A |
C |
10: 51,599,173 (GRCm39) |
K509N |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,002,609 (GRCm39) |
R167Q |
probably damaging |
Het |
Sos2 |
T |
A |
12: 69,650,641 (GRCm39) |
T809S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,533,811 (GRCm39) |
E3356G |
probably damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,155,905 (GRCm39) |
T70A |
probably benign |
Het |
|
Other mutations in Serpinb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00818:Serpinb2
|
APN |
1 |
107,452,466 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00870:Serpinb2
|
APN |
1 |
107,450,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01535:Serpinb2
|
APN |
1 |
107,447,503 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01603:Serpinb2
|
APN |
1 |
107,449,910 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02536:Serpinb2
|
APN |
1 |
107,452,679 (GRCm39) |
unclassified |
probably benign |
|
IGL03167:Serpinb2
|
APN |
1 |
107,450,485 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03184:Serpinb2
|
APN |
1 |
107,452,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1728:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1728:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1728:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1729:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1729:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1730:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1730:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1739:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1739:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1762:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1762:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1783:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1785:Serpinb2
|
UTSW |
1 |
107,451,620 (GRCm39) |
missense |
probably benign |
|
R1785:Serpinb2
|
UTSW |
1 |
107,451,564 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Serpinb2
|
UTSW |
1 |
107,443,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R1785:Serpinb2
|
UTSW |
1 |
107,452,273 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Serpinb2
|
UTSW |
1 |
107,451,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Serpinb2
|
UTSW |
1 |
107,452,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Serpinb2
|
UTSW |
1 |
107,452,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Serpinb2
|
UTSW |
1 |
107,451,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Serpinb2
|
UTSW |
1 |
107,450,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2186:Serpinb2
|
UTSW |
1 |
107,451,694 (GRCm39) |
splice site |
probably null |
|
R4925:Serpinb2
|
UTSW |
1 |
107,443,219 (GRCm39) |
missense |
probably benign |
0.37 |
R5150:Serpinb2
|
UTSW |
1 |
107,450,939 (GRCm39) |
critical splice donor site |
probably null |
|
R5421:Serpinb2
|
UTSW |
1 |
107,451,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Serpinb2
|
UTSW |
1 |
107,447,446 (GRCm39) |
missense |
probably damaging |
0.96 |
R6234:Serpinb2
|
UTSW |
1 |
107,452,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Serpinb2
|
UTSW |
1 |
107,450,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Serpinb2
|
UTSW |
1 |
107,452,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7192:Serpinb2
|
UTSW |
1 |
107,452,306 (GRCm39) |
missense |
probably damaging |
0.96 |
R8520:Serpinb2
|
UTSW |
1 |
107,450,910 (GRCm39) |
missense |
probably benign |
0.01 |
R8829:Serpinb2
|
UTSW |
1 |
107,443,257 (GRCm39) |
missense |
probably benign |
0.09 |
R8924:Serpinb2
|
UTSW |
1 |
107,443,284 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8969:Serpinb2
|
UTSW |
1 |
107,452,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R8990:Serpinb2
|
UTSW |
1 |
107,450,428 (GRCm39) |
missense |
probably damaging |
0.96 |
R9151:Serpinb2
|
UTSW |
1 |
107,449,890 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9622:Serpinb2
|
UTSW |
1 |
107,452,298 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2014-01-21 |