Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Proz'

298564

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: 0.102) question?

Stock #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

13110914-13126026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13115260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 92 (V92A)

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: V92A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
AA Change: V92A

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: V92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,466,970 (GRCm39)	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Chrna1	A	T	2: 73,397,206 (GRCm39)	I361N	possibly damaging	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,345,023 (GRCm39)	L566P	probably benign	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Metap2	T	C	10: 93,701,311 (GRCm39)	M165V	probably damaging	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4a71	T	C	2: 89,358,275 (GRCm39)	T160A	probably benign	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Srrm4	C	T	5: 116,582,624 (GRCm39)		probably benign	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	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
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

2015-04-16