Incidental Mutation 'R1355:Pros1'
| ID |
156300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pros1
|
| Ensembl Gene |
ENSMUSG00000022912 |
| Gene Name |
protein S (alpha) |
| Synonyms |
protein S |
| MMRRC Submission |
039420-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
62674670-62749709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62739921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 457
(K457E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023629]
|
| AlphaFold |
Q08761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023629
AA Change: K457E
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: K457E
| 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: ENSMUST00000127502
|
| Meta Mutation Damage Score |
0.1583 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
| B4galnt4 |
T |
C |
7: 140,645,308 (GRCm39) |
V259A |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,860,945 (GRCm39) |
I944N |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,526,240 (GRCm39) |
D224E |
probably damaging |
Het |
| Ccne1 |
A |
G |
7: 37,805,747 (GRCm39) |
I43T |
possibly damaging |
Het |
| Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
| Cebpz |
G |
T |
17: 79,242,753 (GRCm39) |
D300E |
probably benign |
Het |
| Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
| Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,303,371 (GRCm39) |
W183* |
probably null |
Het |
| Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
| Erc1 |
A |
T |
6: 119,720,381 (GRCm39) |
L440* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,417,331 (GRCm39) |
Y2012C |
probably damaging |
Het |
| Garin5a |
A |
G |
7: 44,146,115 (GRCm39) |
K2E |
possibly damaging |
Het |
| Gm10288 |
A |
T |
3: 146,544,748 (GRCm39) |
|
noncoding transcript |
Het |
| Gm1110 |
T |
A |
9: 26,795,057 (GRCm39) |
K476N |
probably benign |
Het |
| Gm11937 |
A |
T |
11: 99,500,733 (GRCm39) |
S95T |
possibly damaging |
Het |
| H2bc13 |
T |
A |
13: 21,900,027 (GRCm39) |
Q96L |
probably damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,657 (GRCm39) |
H197Q |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
| Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
| Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
| Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
A |
T |
10: 29,023,318 (GRCm39) |
T222S |
probably benign |
Het |
| Nlrp2 |
G |
T |
7: 5,330,490 (GRCm39) |
N635K |
possibly damaging |
Het |
| Or4c3d |
G |
A |
2: 89,881,957 (GRCm39) |
T237I |
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
| Or5b112 |
T |
A |
19: 13,319,882 (GRCm39) |
Y253* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,297,748 (GRCm39) |
|
probably benign |
Het |
| Ppp4r1 |
A |
T |
17: 66,147,982 (GRCm39) |
E924D |
probably benign |
Het |
| Prdm2 |
C |
T |
4: 142,858,533 (GRCm39) |
V1586I |
probably benign |
Het |
| Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
| Rgs16 |
A |
T |
1: 153,619,414 (GRCm39) |
K140M |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,683,507 (GRCm39) |
M1T |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,654,890 (GRCm39) |
K333N |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,057,124 (GRCm39) |
T1103A |
possibly damaging |
Het |
| Sik3 |
C |
T |
9: 46,107,170 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
C |
A |
3: 121,325,320 (GRCm39) |
G47V |
probably damaging |
Het |
| Snrpd1 |
G |
A |
18: 10,627,818 (GRCm39) |
G103D |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
| Susd1 |
C |
T |
4: 59,424,114 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
| Uckl1 |
G |
T |
2: 181,215,169 (GRCm39) |
T213K |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,662 (GRCm39) |
E791G |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,422,600 (GRCm39) |
R187C |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,334 (GRCm39) |
Y645C |
probably damaging |
Het |
| Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTGAACCTGCCTGGATGCG -3'
(R):5'- GGCCTGTCATAGCAACTAGTCACTG -3'
Sequencing Primer
(F):5'- AGATTAGAATCTTCCTGGGCCAC -3'
(R):5'- TAGTCACTGGGCAATGCTAAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation