Incidental Mutation 'IGL03184:Serpinb2'
| ID |
412392 |
| 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 # |
IGL03184
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107439153-107453330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107452607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 395
(L395H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009356]
[ENSMUST00000064916]
[ENSMUST00000146597]
[ENSMUST00000182198]
|
| AlphaFold |
P12388 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009356
AA Change: L395H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: L395H
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
415 |
1.07e-188 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064916
AA Change: L395H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: L395H
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182198
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,570 (GRCm39) |
Y992H |
possibly damaging |
Het |
| Actmap |
A |
G |
7: 26,896,432 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
T |
A |
8: 89,035,271 (GRCm39) |
D58E |
probably benign |
Het |
| Aff2 |
G |
A |
X: 68,810,840 (GRCm39) |
V404M |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,830 (GRCm39) |
L1961M |
probably damaging |
Het |
| Brms1l |
T |
C |
12: 55,915,062 (GRCm39) |
*324Q |
probably null |
Het |
| Bub1b |
T |
C |
2: 118,440,258 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,548,501 (GRCm39) |
|
probably null |
Het |
| Clrn1 |
T |
A |
3: 58,753,645 (GRCm39) |
T239S |
probably benign |
Het |
| Clta |
T |
C |
4: 44,025,514 (GRCm39) |
Y145H |
probably benign |
Het |
| Coro6 |
T |
C |
11: 77,354,779 (GRCm39) |
V14A |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,316,216 (GRCm39) |
D314G |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,648,656 (GRCm39) |
N1418D |
probably benign |
Het |
| Fshr |
A |
C |
17: 89,354,068 (GRCm39) |
L97V |
possibly damaging |
Het |
| Gcm2 |
T |
C |
13: 41,258,888 (GRCm39) |
Q152R |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,041,660 (GRCm39) |
N273S |
probably benign |
Het |
| Gm11437 |
A |
T |
11: 84,047,090 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
A |
G |
7: 141,828,046 (GRCm39) |
S19P |
unknown |
Het |
| Igsf8 |
T |
G |
1: 172,146,199 (GRCm39) |
I462R |
probably damaging |
Het |
| Kirrel3 |
T |
C |
9: 34,919,052 (GRCm39) |
F243S |
probably damaging |
Het |
| Krt80 |
C |
T |
15: 101,250,135 (GRCm39) |
V37M |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,954,839 (GRCm39) |
Y1131H |
probably damaging |
Het |
| Mrpl21 |
T |
C |
19: 3,342,529 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,661,209 (GRCm39) |
N923S |
probably benign |
Het |
| Nectin2 |
G |
A |
7: 19,472,231 (GRCm39) |
P53S |
possibly damaging |
Het |
| Nup98 |
G |
A |
7: 101,832,752 (GRCm39) |
T335I |
probably damaging |
Het |
| Or2y1e |
C |
A |
11: 49,218,568 (GRCm39) |
T110K |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,439,912 (GRCm39) |
D178G |
probably damaging |
Het |
| Or4e5 |
A |
G |
14: 52,728,380 (GRCm39) |
S14P |
probably benign |
Het |
| Or51a42 |
T |
A |
7: 103,708,054 (GRCm39) |
I252F |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,910,627 (GRCm39) |
M116T |
possibly damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,085 (GRCm39) |
E397G |
probably benign |
Het |
| Pcgf5 |
T |
G |
19: 36,412,076 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,764,457 (GRCm39) |
P1025L |
probably damaging |
Het |
| Pdcd1lg2 |
C |
A |
19: 29,431,911 (GRCm39) |
F226L |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,494,035 (GRCm39) |
S332R |
probably benign |
Het |
| Plek |
A |
T |
11: 16,931,887 (GRCm39) |
D321E |
probably benign |
Het |
| Pm20d2 |
A |
G |
4: 33,179,241 (GRCm39) |
F333L |
probably damaging |
Het |
| Polk |
T |
C |
13: 96,620,491 (GRCm39) |
T570A |
probably benign |
Het |
| Rpgrip1l |
G |
A |
8: 92,027,437 (GRCm39) |
L201F |
probably damaging |
Het |
| Slc9c1 |
T |
G |
16: 45,368,003 (GRCm39) |
S197R |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,779,603 (GRCm39) |
E1264V |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,202,390 (GRCm39) |
D678G |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,188,556 (GRCm39) |
S851P |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,129,674 (GRCm39) |
|
probably benign |
Het |
| Tbck |
T |
C |
3: 132,441,864 (GRCm39) |
Y557H |
probably damaging |
Het |
| Tfap2d |
T |
C |
1: 19,189,110 (GRCm39) |
S219P |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,297,995 (GRCm39) |
D570G |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,878,541 (GRCm39) |
Y655C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,585,910 (GRCm39) |
T956S |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,799 (GRCm39) |
I100F |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,631,734 (GRCm39) |
S2634T |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,390 (GRCm39) |
L155* |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,317,381 (GRCm39) |
I43M |
possibly 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 |
|
|
IGL03167:Serpinb2
|
APN |
1 |
107,450,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
Incidental Mutation