Incidental Mutation 'R3724:Pros1'
ID |
270699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pros1
|
Ensembl Gene |
ENSMUSG00000022912 |
Gene Name |
protein S (alpha) |
Synonyms |
protein S |
MMRRC Submission |
040715-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3724 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
62674670-62749709 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62720692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 117
(I117T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023629]
|
AlphaFold |
Q08761 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023629
AA Change: I117T
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023629 Gene: ENSMUSG00000022912 AA Change: I117T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155940
|
Meta Mutation Damage Score |
0.2517 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
T |
8: 120,876,099 (GRCm39) |
R133L |
probably damaging |
Het |
Abhd8 |
G |
A |
8: 71,914,136 (GRCm39) |
A164V |
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Atl1 |
A |
G |
12: 70,006,154 (GRCm39) |
T487A |
probably damaging |
Het |
C2cd6 |
C |
T |
1: 59,105,394 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,353 (GRCm39) |
E110G |
probably damaging |
Het |
Ccne2 |
T |
C |
4: 11,203,039 (GRCm39) |
C386R |
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
Ctdp1 |
C |
T |
18: 80,502,482 (GRCm39) |
V143I |
probably benign |
Het |
Cyp11a1 |
A |
T |
9: 57,926,605 (GRCm39) |
M47L |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,270,566 (GRCm39) |
L956P |
probably benign |
Het |
Enkd1 |
A |
T |
8: 106,430,557 (GRCm39) |
V326E |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,403,180 (GRCm39) |
|
probably benign |
Het |
Etv5 |
T |
C |
16: 22,254,662 (GRCm39) |
D66G |
probably damaging |
Het |
Evi5l |
A |
G |
8: 4,228,080 (GRCm39) |
|
probably benign |
Het |
Foxf2 |
A |
G |
13: 31,814,513 (GRCm39) |
K409R |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,341,900 (GRCm39) |
T1398A |
probably benign |
Het |
Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
Gtdc1 |
T |
C |
2: 44,646,319 (GRCm39) |
E44G |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,565,269 (GRCm39) |
Y2286F |
possibly damaging |
Het |
Iars1 |
A |
G |
13: 49,840,860 (GRCm39) |
|
probably null |
Het |
Ifna5 |
A |
G |
4: 88,754,171 (GRCm39) |
E137G |
probably damaging |
Het |
Itih4 |
G |
A |
14: 30,614,541 (GRCm39) |
E468K |
possibly damaging |
Het |
Kat6a |
A |
T |
8: 23,352,804 (GRCm39) |
H196L |
probably damaging |
Het |
Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
Klhl29 |
C |
T |
12: 5,140,603 (GRCm39) |
V680I |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,060,089 (GRCm39) |
I72T |
probably benign |
Het |
Mbd6 |
C |
T |
10: 127,119,760 (GRCm39) |
|
probably benign |
Het |
Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
Mindy3 |
T |
A |
2: 12,360,165 (GRCm39) |
M6L |
probably damaging |
Het |
Mrpl9 |
T |
A |
3: 94,355,073 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
A |
T |
7: 23,020,802 (GRCm39) |
T430S |
probably benign |
Het |
Or4ac1-ps1 |
T |
G |
2: 88,370,630 (GRCm39) |
|
noncoding transcript |
Het |
Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
Prkce |
A |
T |
17: 86,476,051 (GRCm39) |
K11* |
probably null |
Het |
Prpf38b |
T |
C |
3: 108,811,656 (GRCm39) |
|
probably benign |
Het |
Sh3rf1 |
T |
C |
8: 61,825,756 (GRCm39) |
S584P |
probably benign |
Het |
Slit2 |
T |
C |
5: 48,414,225 (GRCm39) |
|
probably null |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Stambp |
C |
T |
6: 83,534,448 (GRCm39) |
E280K |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,730,781 (GRCm39) |
I1329T |
probably damaging |
Het |
Tex2 |
G |
A |
11: 106,420,156 (GRCm39) |
T869I |
unknown |
Het |
Tlk2 |
A |
G |
11: 105,138,390 (GRCm39) |
T281A |
probably benign |
Het |
Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
Trim3 |
A |
G |
7: 105,260,396 (GRCm39) |
F702L |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
Vmn2r20 |
T |
A |
6: 123,362,706 (GRCm39) |
T693S |
probably benign |
Het |
Zfand2b |
A |
G |
1: 75,146,499 (GRCm39) |
K125E |
possibly damaging |
Het |
Zfp422 |
C |
T |
6: 116,603,340 (GRCm39) |
A220T |
probably benign |
Het |
Zfp747 |
A |
T |
7: 126,973,762 (GRCm39) |
V136D |
probably benign |
Het |
|
Other mutations in Pros1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00937:Pros1
|
APN |
16 |
62,730,408 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCCTCATAGAATTGTCTTAAGGT -3'
(R):5'- TTGTAATGCAACCATCCCAGGAAA -3'
Sequencing Primer
(F):5'- CCCCATCAAGTATATGCAGTGGTTG -3'
(R):5'- CATCCCAGGAAAGCCAAAGGG -3'
|
Posted On |
2015-03-18 |