Incidental Mutation 'IGL01138:Serpina5'
ID |
52495 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina5
|
Ensembl Gene |
ENSMUSG00000041550 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 5 |
Synonyms |
PAI-3, Pci, antitrypsin, alpha-1 antiproteinase |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01138
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104067372-104072396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104070003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 300
(Y300C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021495]
|
AlphaFold |
P70458 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021495
AA Change: Y300C
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000021495 Gene: ENSMUSG00000041550 AA Change: Y300C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SERPIN
|
48 |
405 |
1.4e-160 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012] PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile. [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 |
4930486L24Rik |
A |
G |
13: 61,002,673 (GRCm39) |
V27A |
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,972,275 (GRCm39) |
R499S |
possibly damaging |
Het |
Adamts13 |
T |
C |
2: 26,873,054 (GRCm39) |
S341P |
probably damaging |
Het |
Adgrg1 |
T |
A |
8: 95,730,085 (GRCm39) |
C96S |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,932,275 (GRCm39) |
F215S |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,020,039 (GRCm39) |
F400L |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,977,110 (GRCm39) |
E384G |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,585,335 (GRCm39) |
D1314G |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,735,232 (GRCm39) |
I806F |
probably damaging |
Het |
Coro1c |
G |
A |
5: 113,990,222 (GRCm39) |
|
probably benign |
Het |
Dnmt3b |
A |
T |
2: 153,503,361 (GRCm39) |
D4V |
probably benign |
Het |
Ermn |
G |
T |
2: 57,942,707 (GRCm39) |
L8M |
possibly damaging |
Het |
F13b |
T |
A |
1: 139,444,950 (GRCm39) |
N533K |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,203,657 (GRCm39) |
V93A |
possibly damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,028 (GRCm39) |
L152Q |
probably benign |
Het |
Guca1a |
C |
A |
17: 47,711,309 (GRCm39) |
E12D |
probably damaging |
Het |
Igtp |
A |
G |
11: 58,096,970 (GRCm39) |
N47S |
possibly damaging |
Het |
Lratd2 |
T |
A |
15: 60,694,967 (GRCm39) |
I260F |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,084 (GRCm39) |
N103S |
probably damaging |
Het |
Lsmem1 |
A |
G |
12: 40,230,698 (GRCm39) |
L68P |
probably damaging |
Het |
Maml3 |
A |
G |
3: 51,597,979 (GRCm39) |
S902P |
possibly damaging |
Het |
Mkln1 |
A |
T |
6: 31,409,925 (GRCm39) |
N188Y |
probably damaging |
Het |
Mlxip |
C |
T |
5: 123,588,219 (GRCm39) |
R771W |
probably damaging |
Het |
Myf6 |
T |
C |
10: 107,330,259 (GRCm39) |
R103G |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,314,467 (GRCm39) |
I481K |
probably damaging |
Het |
Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,185,019 (GRCm39) |
E813* |
probably null |
Het |
Or13c7c |
A |
G |
4: 43,835,617 (GRCm39) |
L291P |
probably damaging |
Het |
Plekhg5 |
C |
T |
4: 152,191,435 (GRCm39) |
R410W |
probably damaging |
Het |
Pnma8b |
C |
A |
7: 16,679,088 (GRCm39) |
T24K |
unknown |
Het |
Polq |
A |
T |
16: 36,866,231 (GRCm39) |
Y476F |
possibly damaging |
Het |
Prkd2 |
T |
C |
7: 16,582,736 (GRCm39) |
S200P |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,001,534 (GRCm39) |
L1663I |
probably damaging |
Het |
Shroom4 |
T |
C |
X: 6,497,257 (GRCm39) |
S806P |
probably damaging |
Het |
Sirpa |
T |
C |
2: 129,472,085 (GRCm39) |
V290A |
probably damaging |
Het |
Slc25a47 |
C |
T |
12: 108,821,948 (GRCm39) |
R246C |
probably damaging |
Het |
Slc9a6 |
A |
G |
X: 55,668,791 (GRCm39) |
D199G |
probably damaging |
Het |
Smarca5 |
T |
A |
8: 81,427,705 (GRCm39) |
K1048M |
possibly damaging |
Het |
Sos2 |
C |
T |
12: 69,663,623 (GRCm39) |
|
probably benign |
Het |
Trpm5 |
T |
A |
7: 142,628,306 (GRCm39) |
M990L |
probably benign |
Het |
Vmn2r99 |
A |
T |
17: 19,602,885 (GRCm39) |
T547S |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,446,916 (GRCm39) |
|
probably benign |
Het |
Zfp994 |
G |
A |
17: 22,421,649 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Serpina5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Serpina5
|
APN |
12 |
104,071,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01526:Serpina5
|
APN |
12 |
104,068,149 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:Serpina5
|
APN |
12 |
104,071,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02351:Serpina5
|
APN |
12 |
104,068,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02358:Serpina5
|
APN |
12 |
104,068,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02735:Serpina5
|
APN |
12 |
104,070,116 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03087:Serpina5
|
APN |
12 |
104,067,992 (GRCm39) |
missense |
probably benign |
0.01 |
R0189:Serpina5
|
UTSW |
12 |
104,069,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R0304:Serpina5
|
UTSW |
12 |
104,069,459 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0492:Serpina5
|
UTSW |
12 |
104,068,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Serpina5
|
UTSW |
12 |
104,069,621 (GRCm39) |
missense |
probably benign |
0.00 |
R0611:Serpina5
|
UTSW |
12 |
104,070,046 (GRCm39) |
missense |
probably benign |
|
R1016:Serpina5
|
UTSW |
12 |
104,071,582 (GRCm39) |
missense |
probably damaging |
0.97 |
R1649:Serpina5
|
UTSW |
12 |
104,071,484 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1970:Serpina5
|
UTSW |
12 |
104,070,116 (GRCm39) |
missense |
probably benign |
0.02 |
R4429:Serpina5
|
UTSW |
12 |
104,069,665 (GRCm39) |
missense |
probably benign |
0.00 |
R4805:Serpina5
|
UTSW |
12 |
104,068,460 (GRCm39) |
missense |
probably damaging |
0.97 |
R5608:Serpina5
|
UTSW |
12 |
104,070,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R6226:Serpina5
|
UTSW |
12 |
104,068,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7097:Serpina5
|
UTSW |
12 |
104,068,554 (GRCm39) |
critical splice donor site |
probably null |
|
R7357:Serpina5
|
UTSW |
12 |
104,069,639 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8208:Serpina5
|
UTSW |
12 |
104,071,532 (GRCm39) |
missense |
probably benign |
0.00 |
R9337:Serpina5
|
UTSW |
12 |
104,071,542 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9383:Serpina5
|
UTSW |
12 |
104,070,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Serpina5
|
UTSW |
12 |
104,069,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |