Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02250:Habp2'

286365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02250

Quality Score

Status

Chromosome

Chromosomal Location

56287137-56320822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56308929 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 100 (S100G)

Ref Sequence

ENSEMBL: ENSMUSP00000132444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078284] [ENSMUST00000095948] [ENSMUST00000163502] [ENSMUST00000165522] [ENSMUST00000166049] [ENSMUST00000171341]

Predicted Effect

probably benign
Transcript: ENSMUST00000078284
AA Change: S100G

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

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: S100G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART
Tryp_SPc	307	544	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095948
AA Change: S63G

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

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
AA Change: S63G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	33	66	4.66e-6	SMART
EGF	71	105	3.97e0	SMART
EGF	110	145	2.26e-4	SMART
KR	149	235	2.72e-39	SMART
Tryp_SPc	270	507	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163502

SMART Domains

Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
KR	1	41	5.87e-6	SMART
Tryp_SPc	76	220	5.6e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165407

Predicted Effect

probably benign
Transcript: ENSMUST00000165522

SMART Domains

Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
Pfam:Trypsin	41	106	6.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166049
AA Change: S100G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: S100G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART
Tryp_SPc	302	539	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171341
AA Change: S100G

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

SMART Domains

Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075
AA Change: S100G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART

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 member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	A	7: 28,629,710		probably benign	Het
Antxr2	A	C	5: 97,977,595		probably null	Het
Areg	T	A	5: 91,141,108	I91K	possibly damaging	Het
Arf1	G	A	11: 59,213,167	R79C	probably benign	Het
Bbs2	A	T	8: 94,092,426	I105N	probably benign	Het
Ccdc158	A	T	5: 92,608,478	I1090N	probably damaging	Het
Ccdc90b	T	A	7: 92,574,615		probably benign	Het
Cep57	A	T	9: 13,810,643	F221I	probably damaging	Het
Ckap5	C	T	2: 91,548,901	A62V	probably damaging	Het
Cntn5	G	A	9: 10,145,331	R125C	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cxxc1	T	A	18: 74,219,169	D321E	probably benign	Het
Ddr1	G	A	17: 35,683,480	A801V	probably damaging	Het
Dnm1l	A	G	16: 16,321,686		probably benign	Het
Eif2d	T	A	1: 131,160,429	S184T	probably benign	Het
Emcn	T	A	3: 137,418,986		probably benign	Het
Fry	A	T	5: 150,403,434		probably benign	Het
Gas2	T	A	7: 51,888,038	M37K	probably damaging	Het
Kcnj5	A	G	9: 32,317,756	C49R	probably damaging	Het
Lhx2	T	A	2: 38,354,833	D236E	probably benign	Het
Megf8	T	A	7: 25,342,575	S1273T	probably benign	Het
Mrps2	T	C	2: 28,469,545	I138T	possibly damaging	Het
Mta1	T	C	12: 113,126,798	S175P	possibly damaging	Het
Npat	T	A	9: 53,548,951	Y66*	probably null	Het
Nup160	A	G	2: 90,708,870	R798G	probably damaging	Het
Olfr668	T	C	7: 104,925,015	I250V	probably damaging	Het
Olfr921	C	A	9: 38,775,554	Q100K	probably damaging	Het
Plxnc1	C	T	10: 94,871,031	G548E	probably benign	Het
Radil	A	G	5: 142,543,774	S56P	probably damaging	Het
Rpgrip1l	A	T	8: 91,232,861	M1137K	probably benign	Het
Serpina1c	T	G	12: 103,897,228	M238L	probably benign	Het
Tbc1d14	A	G	5: 36,571,519	S168P	probably damaging	Het
Tmem209	A	G	6: 30,487,388	S498P	probably damaging	Het
Utrn	A	G	10: 12,436,391	Y607H	probably damaging	Het
Vipr1	A	G	9: 121,665,189	I279V	probably benign	Het
Vmn2r67	T	G	7: 85,155,800	N35H	probably benign	Het
Xirp2	C	T	2: 67,514,012	T2199I	probably benign	Het
Zfp423	A	G	8: 87,783,255	S86P	probably damaging	Het
Zfp831	A	G	2: 174,648,201	K1254E	possibly damaging	Het
Zfp873	T	A	10: 82,058,418	M1K	probably null	Het

Other mutations in Habp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Habp2	APN	19	56317832	missense	probably damaging	1.00
IGL01113:Habp2	APN	19	56310116	missense	probably benign	0.13
IGL01737:Habp2	APN	19	56316307	missense	probably benign	0.00
IGL02174:Habp2	APN	19	56311737	missense	probably damaging	0.96
IGL02706:Habp2	APN	19	56310138	critical splice donor site	probably null
IGL02953:Habp2	APN	19	56314232	critical splice donor site	probably null
IGL02986:Habp2	APN	19	56311192	missense	probably benign	0.25
IGL03010:Habp2	APN	19	56311223	critical splice donor site	probably null
R0415:Habp2	UTSW	19	56317717	unclassified	probably benign
R0483:Habp2	UTSW	19	56316432	unclassified	probably benign
R0627:Habp2	UTSW	19	56314046	missense	probably damaging	1.00
R1188:Habp2	UTSW	19	56311722	missense	probably benign	0.39
R1880:Habp2	UTSW	19	56317828	missense	possibly damaging	0.83
R2214:Habp2	UTSW	19	56317817	missense	possibly damaging	0.88
R2473:Habp2	UTSW	19	56288032	missense	possibly damaging	0.92
R2869:Habp2	UTSW	19	56287991	unclassified	probably benign
R2871:Habp2	UTSW	19	56287991	unclassified	probably benign
R3917:Habp2	UTSW	19	56311179	missense	probably damaging	1.00
R3969:Habp2	UTSW	19	56311701	missense	probably damaging	1.00
R4014:Habp2	UTSW	19	56319622	missense	probably benign	0.04
R4853:Habp2	UTSW	19	56311191	unclassified	probably null
R5835:Habp2	UTSW	19	56306786	missense	probably benign	0.16
R6270:Habp2	UTSW	19	56306863	missense	possibly damaging	0.93
R6390:Habp2	UTSW	19	56306823	missense	possibly damaging	0.63
R7110:Habp2	UTSW	19	56311164	nonsense	probably null
R7268:Habp2	UTSW	19	56314086	missense	probably damaging	1.00
R7456:Habp2	UTSW	19	56319525	missense	probably damaging	1.00
R7583:Habp2	UTSW	19	56311804	missense	probably benign	0.03

Posted On

2015-04-16