Incidental Mutation 'R3029:Proz'
| ID |
265908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proz
|
| Ensembl Gene |
ENSMUSG00000031445 |
| Gene Name |
protein Z, vitamin K-dependent plasma glycoprotein |
| Synonyms |
1300015B06Rik |
| MMRRC Submission |
040545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R3029 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13110914-13126026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13111042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 5
(I5F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033822]
[ENSMUST00000063820]
[ENSMUST00000211363]
[ENSMUST00000211453]
|
| AlphaFold |
Q9CQW3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033822
AA Change: I5F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: I5F
| 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 |
probably benign
Transcript: ENSMUST00000063820
|
| SMART Domains |
Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
GLA
|
22 |
85 |
5.98e-32 |
SMART |
|
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
|
EGF
|
128 |
165 |
2.66e-1 |
SMART |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
231 |
459 |
9.03e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211363
AA Change: I5F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211453
AA Change: I5F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,645,966 (GRCm39) |
I213T |
probably benign |
Het |
| Atp8a2 |
CGT |
CGTGT |
14: 59,928,914 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdk6 |
G |
A |
5: 3,440,817 (GRCm39) |
|
probably null |
Het |
| Cryab |
T |
A |
9: 50,667,638 (GRCm39) |
I124N |
probably damaging |
Het |
| E2f5 |
A |
G |
3: 14,668,725 (GRCm39) |
I206V |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,999,776 (GRCm39) |
T396A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,175,535 (GRCm39) |
Y1726C |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,425,034 (GRCm39) |
V443I |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
| Itgad |
T |
A |
7: 127,777,543 (GRCm39) |
I141N |
possibly damaging |
Het |
| Kcnh1 |
C |
T |
1: 192,188,368 (GRCm39) |
T970M |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,014,456 (GRCm39) |
T265S |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,909,922 (GRCm39) |
S213P |
possibly damaging |
Het |
| Pkdrej |
C |
T |
15: 85,701,205 (GRCm39) |
R1577Q |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,043 (GRCm39) |
F54I |
possibly damaging |
Het |
| Rgs20 |
T |
C |
1: 5,140,276 (GRCm39) |
D42G |
probably benign |
Het |
| Rxfp2 |
A |
C |
5: 149,966,595 (GRCm39) |
D111A |
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,092 (GRCm39) |
T111A |
possibly damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,776 (GRCm39) |
L713F |
probably 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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- AATGAGAGTGAGCCTCCTCC -3'
(R):5'- ACCATTGAGTGTCCCAAGGATG -3'
Sequencing Primer
(F):5'- AGTGAGCCTCCTCCCCGAG -3'
(R):5'- TAGTAAGTCCTAGACCAGCTTGAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation