Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01977:Proz'

181738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Proz

Ensembl Gene

ENSMUSG00000031445

Gene Name

protein Z, vitamin K-dependent plasma glycoprotein

Synonyms

1300015B06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

13110914-13126026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13116913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 155 (G155V)

Ref Sequence

ENSEMBL: ENSMUSP00000147733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000211363] [ENSMUST00000211453]

AlphaFold

Q9CQW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033822
AA Change: G155V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: G155V

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 damaging
Transcript: ENSMUST00000211363
AA Change: G155V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211453

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,841,986 (GRCm39)	S1040T	probably benign	Het
Adam25	T	C	8: 41,208,134 (GRCm39)	Y467H	probably benign	Het
Ank1	A	G	8: 23,605,449 (GRCm39)	I1061V	probably benign	Het
Anxa10	T	C	8: 62,529,348 (GRCm39)	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,297,128 (GRCm39)	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590 (GRCm39)		probably null	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,730,993 (GRCm39)	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,541,309 (GRCm39)	D256G	possibly damaging	Het
Cep350	C	T	1: 155,787,714 (GRCm39)	A1375T	probably benign	Het
Chrdl2	A	T	7: 99,671,263 (GRCm39)	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,279,341 (GRCm39)		probably benign	Het
Ddi1	C	A	9: 6,266,226 (GRCm39)	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,497,166 (GRCm39)		probably benign	Het
Fastkd1	C	T	2: 69,524,932 (GRCm39)	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,001,543 (GRCm39)	T755A	probably benign	Het
Fpgt	G	T	3: 154,793,655 (GRCm39)	T124K	probably damaging	Het
Gnl2	G	A	4: 124,941,405 (GRCm39)		probably null	Het
Got1	A	T	19: 43,504,284 (GRCm39)	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,463,070 (GRCm39)	H3N	probably benign	Het
Ikbke	C	T	1: 131,199,838 (GRCm39)		probably benign	Het
Il2rb	A	G	15: 78,365,897 (GRCm39)	S467P	probably benign	Het
Kcnma1	A	G	14: 23,580,367 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,876,973 (GRCm39)	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,804 (GRCm39)	I360N	probably damaging	Het
Nradd	G	A	9: 110,451,237 (GRCm39)	P44S	possibly damaging	Het
Or5m10	G	T	2: 85,717,711 (GRCm39)	C189F	probably damaging	Het
Or7h8	G	A	9: 20,123,755 (GRCm39)	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,770,537 (GRCm39)	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,555,344 (GRCm39)	T225A	possibly damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670 (GRCm39)	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,990,261 (GRCm39)	D70G	probably damaging	Het
Proc	T	A	18: 32,260,472 (GRCm39)	T218S	probably benign	Het
Rab11fip3	T	C	17: 26,286,977 (GRCm39)	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 184,999,220 (GRCm39)	R976*	probably null	Het
Shisa2	G	A	14: 59,867,435 (GRCm39)	C229Y	probably damaging	Het
Slc2a5	T	C	4: 150,226,675 (GRCm39)	V379A	probably damaging	Het
Slc31a2	A	T	4: 62,214,197 (GRCm39)	K47N	probably damaging	Het
Sult2a6	G	A	7: 13,987,411 (GRCm39)	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,662,381 (GRCm39)	Y302C	probably damaging	Het
Thumpd3	C	A	6: 113,036,927 (GRCm39)	N275K	possibly damaging	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tube1	G	A	10: 39,011,041 (GRCm39)		probably benign	Het
Umodl1	T	A	17: 31,192,742 (GRCm39)	Y290N	probably damaging	Het
Usp34	G	A	11: 23,402,661 (GRCm39)	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,229,935 (GRCm39)	D59V	probably benign	Het
Vps11	T	A	9: 44,267,516 (GRCm39)		probably benign	Het
Wdr19	T	C	5: 65,385,912 (GRCm39)	Y631H	probably benign	Het
Wdr62	G	A	7: 29,957,526 (GRCm39)	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,402,253 (GRCm39)	N184I	probably damaging	Het
Wnk4	T	A	11: 101,156,240 (GRCm39)	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,568,483 (GRCm39)	W661R	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
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
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

Posted On

2014-05-07