Incidental Mutation 'IGL01603:Serpinb2'
| ID |
92211 |
| 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 # |
IGL01603
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107449910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 108
(S108T)
|
| 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: S108T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: S108T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064916
AA Change: S108T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: S108T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143832
|
| SMART Domains |
Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
A |
17: 32,564,327 (GRCm39) |
D20V |
probably damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,322,926 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
C |
T |
5: 144,217,625 (GRCm39) |
|
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,947,037 (GRCm39) |
F184L |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,454,154 (GRCm38) |
|
probably benign |
Het |
| Cbr4 |
A |
T |
8: 61,956,245 (GRCm39) |
*237Y |
probably null |
Het |
| Cln3 |
T |
G |
7: 126,174,526 (GRCm39) |
N275T |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,262,373 (GRCm39) |
E823G |
probably damaging |
Het |
| Ctr9 |
C |
A |
7: 110,648,538 (GRCm39) |
A726D |
probably damaging |
Het |
| Def6 |
C |
T |
17: 28,438,714 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,743,030 (GRCm39) |
I395N |
probably damaging |
Het |
| Eln |
T |
C |
5: 134,747,894 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
T |
11: 120,706,891 (GRCm39) |
H920Q |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,770,832 (GRCm39) |
I78T |
probably damaging |
Het |
| Gm7275 |
A |
T |
16: 47,893,942 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
A |
C |
7: 87,252,386 (GRCm39) |
Y212S |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,231,129 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,942,175 (GRCm39) |
V528A |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,280,114 (GRCm39) |
A3168T |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,634,058 (GRCm39) |
S18P |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,575,564 (GRCm39) |
K294I |
possibly damaging |
Het |
| Lama4 |
G |
A |
10: 38,941,642 (GRCm39) |
G693E |
possibly damaging |
Het |
| Ldb1 |
A |
T |
19: 46,024,014 (GRCm39) |
I124K |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,635 (GRCm39) |
T680I |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,411,954 (GRCm39) |
W45R |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,758,010 (GRCm39) |
D186V |
possibly damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,374 (GRCm39) |
Y148C |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,569,473 (GRCm39) |
A178T |
probably benign |
Het |
| Mylip |
A |
C |
13: 45,543,479 (GRCm39) |
E16A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,352,379 (GRCm39) |
F828S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,928,631 (GRCm39) |
F6012L |
probably damaging |
Het |
| Or14a257 |
A |
G |
7: 86,138,139 (GRCm39) |
S207P |
possibly damaging |
Het |
| Or2o1 |
A |
C |
11: 49,051,438 (GRCm39) |
D199A |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,554,580 (GRCm39) |
Y244C |
possibly damaging |
Het |
| Pcid2 |
T |
A |
8: 13,129,936 (GRCm39) |
K273N |
possibly damaging |
Het |
| Plekhm3 |
C |
T |
1: 64,960,991 (GRCm39) |
D422N |
probably damaging |
Het |
| Prr12 |
T |
C |
7: 44,692,909 (GRCm39) |
H1541R |
probably damaging |
Het |
| Psg26 |
A |
C |
7: 18,209,028 (GRCm39) |
V460G |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,459 (GRCm39) |
R295* |
probably null |
Het |
| Sbf1 |
A |
T |
15: 89,187,481 (GRCm39) |
V690E |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,476,692 (GRCm39) |
Y709H |
probably damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,481,989 (GRCm39) |
W160R |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,704,466 (GRCm39) |
D449V |
probably damaging |
Het |
| Tas2r108 |
C |
A |
6: 40,470,720 (GRCm39) |
N65K |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,575 (GRCm39) |
F1002I |
possibly damaging |
Het |
| Trpm5 |
G |
A |
7: 142,629,338 (GRCm39) |
S942L |
probably benign |
Het |
| Tspan5 |
T |
C |
3: 138,596,517 (GRCm39) |
S52P |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,725,181 (GRCm39) |
T120A |
probably benign |
Het |
| Usp6nl |
T |
C |
2: 6,428,246 (GRCm39) |
F193L |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,030,833 (GRCm39) |
C523S |
probably damaging |
Het |
| Wfdc2 |
C |
T |
2: 164,405,979 (GRCm39) |
P92S |
probably benign |
Het |
| Zbtb18 |
A |
T |
1: 177,275,549 (GRCm39) |
H303L |
probably benign |
Het |
| Zfp174 |
A |
T |
16: 3,672,153 (GRCm39) |
H234L |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,299,117 (GRCm39) |
|
probably null |
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 |
|
|
IGL01721:Serpinb2
|
APN |
1 |
107,443,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation