Incidental Mutation 'IGL03167:Serpinb2'
ID |
411698 |
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 # |
IGL03167
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107450485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 161
(C161S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
[ENSMUST00000146597]
|
AlphaFold |
P12388 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009356
AA Change: C161S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000009356 Gene: ENSMUSG00000062345 AA Change: C161S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064916
AA Change: C161S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000065277 Gene: ENSMUSG00000062345 AA Change: C161S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000143832
AA Change: C37S
|
SMART Domains |
Protein: ENSMUSP00000114751 Gene: ENSMUSG00000062345 AA Change: C37S
Domain | Start | End | E-Value | Type |
SERPIN
|
1 |
189 |
2.36e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146597
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
A |
C |
6: 34,834,594 (GRCm39) |
K921T |
possibly damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,679,894 (GRCm39) |
|
probably benign |
Het |
Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
Ano5 |
G |
A |
7: 51,235,259 (GRCm39) |
V698I |
probably damaging |
Het |
Ccnh |
A |
G |
13: 85,345,685 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,282,635 (GRCm39) |
I771F |
probably damaging |
Het |
Dmrt1 |
T |
C |
19: 25,523,257 (GRCm39) |
S203P |
possibly damaging |
Het |
Exoc5 |
A |
T |
14: 49,288,802 (GRCm39) |
V82E |
probably damaging |
Het |
Ffar3 |
A |
T |
7: 30,554,780 (GRCm39) |
V180E |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,700,108 (GRCm39) |
S381G |
probably benign |
Het |
Foxf1 |
C |
A |
8: 121,811,647 (GRCm39) |
Y170* |
probably null |
Het |
Glis1 |
A |
G |
4: 107,293,102 (GRCm39) |
D75G |
possibly damaging |
Het |
Gpr151 |
T |
C |
18: 42,711,439 (GRCm39) |
H413R |
probably benign |
Het |
Gtf3c1 |
T |
C |
7: 125,269,752 (GRCm39) |
|
probably null |
Het |
Htt |
T |
A |
5: 34,976,330 (GRCm39) |
F711I |
probably damaging |
Het |
Il1rapl1 |
A |
G |
X: 85,790,867 (GRCm39) |
I691T |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,821,406 (GRCm39) |
Y579C |
probably benign |
Het |
Lingo3 |
A |
G |
10: 80,671,178 (GRCm39) |
S251P |
probably damaging |
Het |
Mbl1 |
T |
A |
14: 40,880,543 (GRCm39) |
S144T |
probably benign |
Het |
Musk |
A |
T |
4: 58,366,821 (GRCm39) |
R462W |
possibly damaging |
Het |
Mynn |
T |
C |
3: 30,663,191 (GRCm39) |
L373P |
probably damaging |
Het |
Myoz2 |
G |
A |
3: 122,800,139 (GRCm39) |
R230* |
probably null |
Het |
Nup35 |
A |
G |
2: 80,488,660 (GRCm39) |
|
probably benign |
Het |
Or14a259 |
C |
T |
7: 86,013,128 (GRCm39) |
C139Y |
probably damaging |
Het |
Or2d4 |
A |
G |
7: 106,543,852 (GRCm39) |
S119P |
probably damaging |
Het |
Or5ak4 |
C |
T |
2: 85,161,664 (GRCm39) |
D193N |
probably benign |
Het |
Or5m3 |
T |
A |
2: 85,838,511 (GRCm39) |
Y130* |
probably null |
Het |
Pira2 |
A |
T |
7: 3,843,919 (GRCm39) |
S618T |
probably damaging |
Het |
Plch1 |
G |
A |
3: 63,630,165 (GRCm39) |
|
probably benign |
Het |
Pparg |
T |
G |
6: 115,450,188 (GRCm39) |
F396V |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,767,108 (GRCm39) |
E441G |
probably damaging |
Het |
Skint5 |
C |
T |
4: 113,751,047 (GRCm39) |
E333K |
unknown |
Het |
Slc22a8 |
C |
T |
19: 8,587,322 (GRCm39) |
P461S |
probably damaging |
Het |
Slc38a6 |
C |
T |
12: 73,397,311 (GRCm39) |
Q318* |
probably null |
Het |
Sycp2 |
T |
C |
2: 178,021,291 (GRCm39) |
K512E |
probably damaging |
Het |
Tas2r103 |
T |
A |
6: 133,013,623 (GRCm39) |
N148Y |
probably damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,609,979 (GRCm39) |
M257T |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,788,119 (GRCm39) |
N792K |
probably damaging |
Het |
Thada |
A |
T |
17: 84,766,277 (GRCm39) |
V43E |
probably damaging |
Het |
Trabd2b |
T |
C |
4: 114,467,195 (GRCm39) |
S475P |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,696,681 (GRCm39) |
V242A |
probably damaging |
Het |
Ypel3 |
A |
T |
7: 126,379,247 (GRCm39) |
I107F |
probably damaging |
Het |
Zfp352 |
T |
C |
4: 90,112,939 (GRCm39) |
S360P |
probably damaging |
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 |
IGL01721:Serpinb2
|
APN |
1 |
107,443,333 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02536:Serpinb2
|
APN |
1 |
107,452,679 (GRCm39) |
unclassified |
probably benign |
|
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 |
2016-08-02 |