Incidental Mutation 'IGL02159:Serpina5'
| ID |
282351 |
| 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 # |
IGL02159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104067372-104072396 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104071557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 388
(L388P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021495]
|
| AlphaFold |
P70458 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021495
AA Change: L388P
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021495
Gene: ENSMUSG00000041550
AA Change: L388P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SERPIN
|
48 |
405 |
1.4e-160 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175615
|
| 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 |
|---|
| 1700017N19Rik |
T |
C |
10: 100,446,527 (GRCm39) |
L257S |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
| Afmid |
T |
C |
11: 117,727,252 (GRCm39) |
W267R |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
| Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
| Clec4a2 |
C |
T |
6: 123,116,285 (GRCm39) |
S150L |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
| Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
| Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
| Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
| Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
| Muc13 |
C |
A |
16: 33,619,849 (GRCm39) |
T199K |
unknown |
Het |
| Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,098,838 (GRCm39) |
|
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,271,057 (GRCm39) |
L478P |
probably benign |
Het |
| Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
| Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
| Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
| Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
possibly damaging |
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 |
|
IGL01138:Serpina5
|
APN |
12 |
104,070,003 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01526:Serpina5
|
APN |
12 |
104,068,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation