Incidental Mutation 'R0241:Proz'
ID |
66190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Proz
|
Ensembl Gene |
ENSMUSG00000031445 |
Gene Name |
protein Z, vitamin K-dependent plasma glycoprotein |
Synonyms |
1300015B06Rik |
MMRRC Submission |
038479-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R0241 (G1)
|
Quality Score |
158 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
13110914-13126026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 13115356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 124
(M124K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033822]
[ENSMUST00000211363]
[ENSMUST00000211453]
|
AlphaFold |
Q9CQW3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033822
AA Change: M124K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000033822 Gene: ENSMUSG00000031445 AA Change: M124K
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
GLA
|
22 |
86 |
7.03e-29 |
SMART |
EGF
|
90 |
123 |
1.65e-6 |
SMART |
EGF
|
128 |
166 |
1.19e-3 |
SMART |
Tryp_SPc
|
182 |
394 |
6.49e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210050
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211363
AA Change: M124K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211453
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 89.8%
- 20x: 65.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] PHENOTYPE: When unchallenged, mice homozygous for a knock-out allele do not express an obvious phenotype; however, homozygotes exhibit significantly reduced survival following collagen/epinephrine-induced thromboembolism and develop enhanced thrombosis in the ferric chloride-induced arterial injury model. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
Cactin |
A |
G |
10: 81,158,486 (GRCm39) |
T151A |
probably benign |
Het |
Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
Fcer2a |
A |
G |
8: 3,738,796 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,311,962 (GRCm39) |
C239R |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Simc1 |
G |
T |
13: 54,698,338 (GRCm39) |
L1319F |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
Tas2r118 |
T |
C |
6: 23,969,338 (GRCm39) |
Y241C |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tmbim7 |
A |
T |
5: 3,716,866 (GRCm39) |
Y66F |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
|
Other mutations in Proz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01677:Proz
|
APN |
8 |
13,115,238 (GRCm39) |
splice site |
probably benign |
|
IGL01977:Proz
|
APN |
8 |
13,116,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02553:Proz
|
APN |
8 |
13,115,260 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02991:Proz
|
UTSW |
8 |
13,123,490 (GRCm39) |
missense |
probably benign |
0.00 |
R0241:Proz
|
UTSW |
8 |
13,115,356 (GRCm39) |
missense |
probably benign |
0.02 |
R0482:Proz
|
UTSW |
8 |
13,123,460 (GRCm39) |
nonsense |
probably null |
|
R1614:Proz
|
UTSW |
8 |
13,116,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R1906:Proz
|
UTSW |
8 |
13,123,686 (GRCm39) |
splice site |
probably null |
|
R2230:Proz
|
UTSW |
8 |
13,113,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R2232:Proz
|
UTSW |
8 |
13,113,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R2444:Proz
|
UTSW |
8 |
13,111,027 (GRCm39) |
start gained |
probably benign |
|
R3029:Proz
|
UTSW |
8 |
13,111,042 (GRCm39) |
missense |
probably benign |
|
R3847:Proz
|
UTSW |
8 |
13,123,533 (GRCm39) |
missense |
probably benign |
0.00 |
R3850:Proz
|
UTSW |
8 |
13,123,533 (GRCm39) |
missense |
probably benign |
0.00 |
R4063:Proz
|
UTSW |
8 |
13,114,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R5104:Proz
|
UTSW |
8 |
13,116,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R5309:Proz
|
UTSW |
8 |
13,111,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R5337:Proz
|
UTSW |
8 |
13,116,854 (GRCm39) |
missense |
probably benign |
0.01 |
R5447:Proz
|
UTSW |
8 |
13,122,578 (GRCm39) |
missense |
probably benign |
0.31 |
R5876:Proz
|
UTSW |
8 |
13,123,448 (GRCm39) |
missense |
probably benign |
0.05 |
R6739:Proz
|
UTSW |
8 |
13,123,451 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7559:Proz
|
UTSW |
8 |
13,113,455 (GRCm39) |
missense |
probably benign |
0.01 |
R7842:Proz
|
UTSW |
8 |
13,113,406 (GRCm39) |
missense |
probably benign |
0.19 |
R7867:Proz
|
UTSW |
8 |
13,111,027 (GRCm39) |
start gained |
probably benign |
|
R8676:Proz
|
UTSW |
8 |
13,123,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R8820:Proz
|
UTSW |
8 |
13,113,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R8936:Proz
|
UTSW |
8 |
13,115,319 (GRCm39) |
missense |
probably benign |
0.01 |
R9255:Proz
|
UTSW |
8 |
13,123,472 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9644:Proz
|
UTSW |
8 |
13,116,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
|
Posted On |
2013-08-19 |