Incidental Mutation 'R6739:Proz'
| ID |
530357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Proz
|
| Ensembl Gene |
ENSMUSG00000031445 |
| Gene Name |
protein Z, vitamin K-dependent plasma glycoprotein |
| Synonyms |
1300015B06Rik |
| MMRRC Submission |
044857-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13110914-13126026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13123451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 241
(I241F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033822]
[ENSMUST00000164416]
[ENSMUST00000168164]
[ENSMUST00000211363]
[ENSMUST00000211453]
|
| AlphaFold |
Q9CQW3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033822
AA Change: I241F
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: I241F
| 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: ENSMUST00000164416
|
| SMART Domains |
Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
144 |
312 |
4.29e-68 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211453
|
| Meta Mutation Damage Score |
0.5992 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (33/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,658 (GRCm39) |
V14A |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,873,643 (GRCm39) |
N59K |
probably damaging |
Het |
| Ano4 |
T |
C |
10: 88,863,114 (GRCm39) |
Y286C |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,885,543 (GRCm39) |
H545Y |
possibly damaging |
Het |
| Arid1a |
T |
A |
4: 133,414,937 (GRCm39) |
S1152C |
unknown |
Het |
| Cfap73 |
T |
C |
5: 120,768,258 (GRCm39) |
T167A |
probably benign |
Het |
| Ctbs |
A |
T |
3: 146,165,254 (GRCm39) |
|
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,857,123 (GRCm39) |
N742K |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,011,313 (GRCm39) |
S1157P |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,305,352 (GRCm39) |
N14S |
probably damaging |
Het |
| Dpp4 |
C |
T |
2: 62,217,439 (GRCm39) |
V53I |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,246 (GRCm39) |
N329S |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,699 (GRCm39) |
V327A |
probably benign |
Het |
| Gsg1 |
T |
A |
6: 135,214,612 (GRCm39) |
Q299L |
probably damaging |
Het |
| Igsf23 |
A |
G |
7: 19,678,673 (GRCm39) |
L39P |
probably damaging |
Het |
| Il17rd |
A |
G |
14: 26,821,488 (GRCm39) |
R261G |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,479,503 (GRCm39) |
D276N |
probably benign |
Het |
| Lox |
T |
C |
18: 52,660,031 (GRCm39) |
T268A |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,481,568 (GRCm39) |
S825G |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,084,850 (GRCm39) |
D243G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,636,018 (GRCm39) |
Y219H |
probably damaging |
Het |
| Or1x6 |
T |
A |
11: 50,939,564 (GRCm39) |
V210E |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,825,916 (GRCm39) |
T131N |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,160,522 (GRCm39) |
L781H |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,333,097 (GRCm39) |
C2769S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,913,836 (GRCm39) |
I1076T |
possibly damaging |
Het |
| Snrnp70 |
A |
T |
7: 45,036,843 (GRCm39) |
D100E |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,850,566 (GRCm39) |
L240Q |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,637 (GRCm39) |
S781P |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,842,675 (GRCm39) |
|
probably benign |
Het |
| Zfta |
C |
T |
19: 7,398,712 (GRCm39) |
R243* |
probably null |
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 |
|
|
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 |
|
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'- ACAGTGAAATGAGTGGGCTC -3'
(R):5'- TCTGCTTGTGTGACCGACAG -3'
Sequencing Primer
(F):5'- GGGCTCAGCTCACTTTGATC -3'
(R):5'- GTGTGCCATTAAGCATCCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation