Incidental Mutation 'IGL00937:Pros1'
| ID |
29154 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pros1
|
| Ensembl Gene |
ENSMUSG00000022912 |
| Gene Name |
protein S (alpha) |
| Synonyms |
protein S |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00937
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
62674670-62749709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62730408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 299
(L299F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023629]
|
| AlphaFold |
Q08761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023629
AA Change: L299F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: L299F
| Domain | Start | End | E-Value | Type |
|---|
|
GLA
|
23 |
86 |
3.63e-31 |
SMART |
|
EGF
|
120 |
155 |
4.39e-2 |
SMART |
|
EGF_CA
|
157 |
200 |
6.91e-9 |
SMART |
|
EGF_CA
|
201 |
242 |
5.23e-9 |
SMART |
|
EGF_CA
|
243 |
283 |
1.1e-7 |
SMART |
|
LamG
|
321 |
458 |
8.55e-22 |
SMART |
|
LamG
|
506 |
646 |
1.57e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2) |
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d2a |
A |
T |
5: 43,845,464 (GRCm39) |
|
probably null |
Het |
| Cd34 |
A |
G |
1: 194,642,422 (GRCm39) |
E381G |
probably damaging |
Het |
| Chka |
A |
G |
19: 3,942,189 (GRCm39) |
E381G |
probably benign |
Het |
| Dennd1b |
T |
A |
1: 139,097,977 (GRCm39) |
C673S |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,690,846 (GRCm39) |
A227T |
probably benign |
Het |
| F13b |
T |
A |
1: 139,445,098 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,263,517 (GRCm39) |
N933D |
possibly damaging |
Het |
| Mmp27 |
T |
C |
9: 7,578,900 (GRCm39) |
|
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,914,349 (GRCm39) |
V815I |
probably benign |
Het |
| Or2a5 |
T |
A |
6: 42,873,568 (GRCm39) |
F61Y |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,364 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or3a1d |
C |
T |
11: 74,238,255 (GRCm39) |
V52I |
probably benign |
Het |
| Or51ab3 |
C |
A |
7: 103,201,064 (GRCm39) |
A24E |
probably damaging |
Het |
| Or51h1 |
T |
A |
7: 102,308,555 (GRCm39) |
S176T |
probably damaging |
Het |
| Or52k2 |
T |
A |
7: 102,253,564 (GRCm39) |
M1K |
probably null |
Het |
| Pms1 |
T |
A |
1: 53,314,410 (GRCm39) |
E45V |
possibly damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,861 (GRCm39) |
S126P |
possibly damaging |
Het |
| Scrn1 |
A |
G |
6: 54,497,718 (GRCm39) |
I291T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,572,242 (GRCm39) |
Y676* |
probably null |
Het |
| Tenm2 |
A |
C |
11: 35,915,450 (GRCm39) |
V2028G |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,950,501 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pros1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01300:Pros1
|
APN |
16 |
62,734,174 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02709:Pros1
|
APN |
16 |
62,719,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03080:Pros1
|
APN |
16 |
62,738,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03095:Pros1
|
APN |
16 |
62,728,132 (GRCm39) |
nonsense |
probably null |
|
|
F6893:Pros1
|
UTSW |
16 |
62,745,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0124:Pros1
|
UTSW |
16 |
62,734,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0517:Pros1
|
UTSW |
16 |
62,723,881 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1113:Pros1
|
UTSW |
16 |
62,734,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1308:Pros1
|
UTSW |
16 |
62,734,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1355:Pros1
|
UTSW |
16 |
62,739,921 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1370:Pros1
|
UTSW |
16 |
62,739,921 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1517:Pros1
|
UTSW |
16 |
62,705,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1866:Pros1
|
UTSW |
16 |
62,748,498 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1876:Pros1
|
UTSW |
16 |
62,723,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2255:Pros1
|
UTSW |
16 |
62,723,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2364:Pros1
|
UTSW |
16 |
62,734,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2369:Pros1
|
UTSW |
16 |
62,748,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2979:Pros1
|
UTSW |
16 |
62,734,229 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3724:Pros1
|
UTSW |
16 |
62,720,692 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4056:Pros1
|
UTSW |
16 |
62,721,008 (GRCm39) |
nonsense |
probably null |
|
|
R4556:Pros1
|
UTSW |
16 |
62,721,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4688:Pros1
|
UTSW |
16 |
62,709,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4850:Pros1
|
UTSW |
16 |
62,705,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4923:Pros1
|
UTSW |
16 |
62,723,935 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5008:Pros1
|
UTSW |
16 |
62,748,548 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5370:Pros1
|
UTSW |
16 |
62,734,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5580:Pros1
|
UTSW |
16 |
62,746,689 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5930:Pros1
|
UTSW |
16 |
62,748,424 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5974:Pros1
|
UTSW |
16 |
62,721,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6233:Pros1
|
UTSW |
16 |
62,719,284 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6949:Pros1
|
UTSW |
16 |
62,744,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7055:Pros1
|
UTSW |
16 |
62,748,465 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7347:Pros1
|
UTSW |
16 |
62,739,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7375:Pros1
|
UTSW |
16 |
62,744,913 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7419:Pros1
|
UTSW |
16 |
62,748,433 (GRCm39) |
nonsense |
probably null |
|
|
R7980:Pros1
|
UTSW |
16 |
62,748,516 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8234:Pros1
|
UTSW |
16 |
62,748,540 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8479:Pros1
|
UTSW |
16 |
62,728,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8514:Pros1
|
UTSW |
16 |
62,730,472 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8827:Pros1
|
UTSW |
16 |
62,746,827 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9131:Pros1
|
UTSW |
16 |
62,748,397 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9484:Pros1
|
UTSW |
16 |
62,744,887 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-04-17 |
Incidental Mutation