Incidental Mutation 'R6726:Serpina10'
| ID |
529875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina10
|
| Ensembl Gene |
ENSMUSG00000061947 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 |
| Synonyms |
PZI |
| MMRRC Submission |
044844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103582934-103597681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103594628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 197
(I197K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044231]
[ENSMUST00000121625]
|
| AlphaFold |
Q8R121 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044231
AA Change: I197K
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048357
Gene: ENSMUSG00000061947
AA Change: I197K
| 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 |
probably benign
Transcript: ENSMUST00000121625
AA Change: I197K
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113644
Gene: ENSMUSG00000061947
AA Change: I197K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,735,540 (GRCm39) |
|
probably null |
Het |
| Arsk |
T |
C |
13: 76,222,907 (GRCm39) |
Y230C |
probably damaging |
Het |
| Atf7ip |
G |
A |
6: 136,559,389 (GRCm39) |
V737M |
probably damaging |
Het |
| Atp6v1e1 |
A |
T |
6: 120,781,011 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,557,260 (GRCm39) |
V3A |
probably benign |
Het |
| Brap |
T |
C |
5: 121,813,365 (GRCm39) |
S243P |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,702,037 (GRCm39) |
I167N |
probably damaging |
Het |
| Ckap2l |
C |
A |
2: 129,111,114 (GRCm39) |
E694D |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,441,408 (GRCm39) |
V497I |
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,741 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dll1 |
C |
A |
17: 15,590,513 (GRCm39) |
C401F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,490,147 (GRCm39) |
T1991A |
probably damaging |
Het |
| Dock3 |
C |
T |
9: 107,036,651 (GRCm39) |
W42* |
probably null |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,287 (GRCm39) |
E426G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,054,961 (GRCm39) |
N1157S |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,502,667 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,748,185 (GRCm39) |
N1241S |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,615,906 (GRCm39) |
F17S |
possibly damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,683,657 (GRCm39) |
D41E |
probably damaging |
Het |
| Plg |
T |
G |
17: 12,597,595 (GRCm39) |
L14R |
probably damaging |
Het |
| Prkab1 |
A |
G |
5: 116,158,092 (GRCm39) |
V168A |
probably benign |
Het |
| Prr35 |
G |
C |
17: 26,166,689 (GRCm39) |
P283A |
probably benign |
Het |
| Ptdss1 |
C |
T |
13: 67,101,595 (GRCm39) |
R95* |
probably null |
Het |
| Rab3gap2 |
T |
G |
1: 184,980,062 (GRCm39) |
S327A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Homo |
| Sdr42e2 |
T |
C |
7: 120,425,332 (GRCm39) |
S308P |
probably damaging |
Het |
| Senp8 |
C |
A |
9: 59,644,473 (GRCm39) |
V228L |
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,854,718 (GRCm39) |
N231S |
probably benign |
Het |
| Sez6l2 |
T |
C |
7: 126,567,177 (GRCm39) |
V869A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,769 (GRCm39) |
K688* |
probably null |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Ufsp2 |
T |
C |
8: 46,438,504 (GRCm39) |
M194T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,485,881 (GRCm39) |
I2997T |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,637 (GRCm39) |
G730D |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,059,822 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,343,212 (GRCm39) |
S1818P |
possibly 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 |
|
IGL02411:Serpina10
|
APN |
12 |
103,583,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGAGCATCCTTCAGTAC -3'
(R):5'- ATGGACTCAACCTACAGGCC -3'
Sequencing Primer
(F):5'- GCAGAGCATCCTTCAGTACTAAGTG -3'
(R):5'- TCAACCTACAGGCCCTGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation