Incidental Mutation 'IGL02411:Serpina10'
ID |
292288 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina10
|
Ensembl Gene |
ENSMUSG00000061947 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 |
Synonyms |
PZI |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL02411
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103582934-103597681 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103583202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 360
(M360K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021631]
[ENSMUST00000044231]
[ENSMUST00000121625]
[ENSMUST00000187155]
[ENSMUST00000189871]
|
AlphaFold |
Q8R121 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021631
|
SMART Domains |
Protein: ENSMUSP00000021631 Gene: ENSMUSG00000021209
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
55 |
577 |
6e-27 |
SMART |
PDB:3FGA|A
|
178 |
666 |
8e-6 |
PDB |
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044231
AA Change: M414K
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048357 Gene: ENSMUSG00000061947 AA Change: M414K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
SERPIN
|
88 |
445 |
2.79e-105 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121625
AA Change: M360K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113644 Gene: ENSMUSG00000061947 AA Change: M360K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
SERPIN
|
88 |
391 |
3.12e-53 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187155
|
SMART Domains |
Protein: ENSMUSP00000140874 Gene: ENSMUSG00000021209
Domain | Start | End | E-Value | Type |
Pfam:HEAT
|
145 |
175 |
2.8e-3 |
PFAM |
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
coiled coil region
|
581 |
617 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189871
|
SMART Domains |
Protein: ENSMUSP00000139786 Gene: ENSMUSG00000021209
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
95 |
577 |
7e-26 |
SMART |
PDB:1B3U|B
|
178 |
666 |
2e-6 |
PDB |
coiled coil region
|
690 |
726 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the large serpin family of proteins, and is also known as serpin PZ-dependent protease inhibitor (ZPI or PZI). This protein is thought to play an important role in the regulation of coagulation. It directly inhibits factor XIa, and also inhibits factor Xa in the presence of calcium, phospholipids, and protein Z (PZ). Deficiencies in this gene lead to an increase in thrombosis. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Aug 2014] PHENOTYPE: Mice homozygous for a knock-out allele display a reduced survival rate, enhanced thrombosis after ferric chloride-induced carotid artery injury, and increased mortality from pulmonary thromboembolism following collagen/epinephrine infusion. [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 |
0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
G |
17: 47,778,263 (GRCm39) |
|
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,642,763 (GRCm39) |
R494* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
Dntt |
T |
A |
19: 41,041,424 (GRCm39) |
|
probably null |
Het |
Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
Oog2 |
A |
T |
4: 143,921,618 (GRCm39) |
H194L |
probably damaging |
Het |
Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
Poln |
G |
T |
5: 34,270,666 (GRCm39) |
S455* |
probably null |
Het |
Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,598 (GRCm39) |
E205G |
probably damaging |
Het |
|
Other mutations in Serpina10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02261:Serpina10
|
APN |
12 |
103,583,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Serpina10
|
UTSW |
12 |
103,593,156 (GRCm39) |
intron |
probably benign |
|
R0051:Serpina10
|
UTSW |
12 |
103,593,156 (GRCm39) |
intron |
probably benign |
|
R0526:Serpina10
|
UTSW |
12 |
103,583,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Serpina10
|
UTSW |
12 |
103,594,500 (GRCm39) |
missense |
probably benign |
|
R1986:Serpina10
|
UTSW |
12 |
103,594,514 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2277:Serpina10
|
UTSW |
12 |
103,593,002 (GRCm39) |
missense |
probably benign |
0.13 |
R4227:Serpina10
|
UTSW |
12 |
103,594,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R5237:Serpina10
|
UTSW |
12 |
103,595,075 (GRCm39) |
missense |
probably benign |
0.39 |
R5506:Serpina10
|
UTSW |
12 |
103,592,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R6144:Serpina10
|
UTSW |
12 |
103,595,092 (GRCm39) |
missense |
probably benign |
0.01 |
R6726:Serpina10
|
UTSW |
12 |
103,594,628 (GRCm39) |
missense |
probably benign |
0.40 |
R6819:Serpina10
|
UTSW |
12 |
103,594,619 (GRCm39) |
missense |
probably benign |
0.05 |
R7351:Serpina10
|
UTSW |
12 |
103,595,194 (GRCm39) |
missense |
probably benign |
|
R7780:Serpina10
|
UTSW |
12 |
103,594,806 (GRCm39) |
missense |
probably benign |
0.01 |
R8052:Serpina10
|
UTSW |
12 |
103,594,569 (GRCm39) |
missense |
probably damaging |
0.99 |
R8094:Serpina10
|
UTSW |
12 |
103,595,032 (GRCm39) |
small deletion |
probably benign |
|
R8213:Serpina10
|
UTSW |
12 |
103,594,536 (GRCm39) |
missense |
probably benign |
0.01 |
R8318:Serpina10
|
UTSW |
12 |
103,583,107 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8434:Serpina10
|
UTSW |
12 |
103,594,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R8818:Serpina10
|
UTSW |
12 |
103,595,063 (GRCm39) |
missense |
probably benign |
|
R9526:Serpina10
|
UTSW |
12 |
103,583,217 (GRCm39) |
missense |
probably damaging |
1.00 |
Y4337:Serpina10
|
UTSW |
12 |
103,590,735 (GRCm39) |
missense |
probably benign |
0.17 |
|
Posted On |
2015-04-16 |