Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02441:Hpx'

293977

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hpx

Ensembl Gene

ENSMUSG00000030895

Gene Name

hemopexin

Synonyms

Hpxn, hx

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

105591613-105600137 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105592223 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 327 (F327S)

Ref Sequence

ENSEMBL: ENSMUSP00000033185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033185] [ENSMUST00000210531]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033185
AA Change: F327S

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

SMART Domains

Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: F327S

Domain	Start	End	E-Value	Type
HX	56	93	1.29e0	SMART
HX	97	140	5.52e-8	SMART
Blast:HX	143	186	3e-7	BLAST
HX	187	230	3.48e-5	SMART
HX	261	304	1.07e-5	SMART
HX	306	351	5.49e-3	SMART
Blast:HX	358	403	2e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000210531

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 plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However, they have increased susceptiblity to induced hemolytic stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	C	T	7: 97,380,297	R179C	probably benign	Het
Als2	A	G	1: 59,215,472	M242T	probably damaging	Het
Atad1	C	T	19: 32,706,948	V17I	probably benign	Het
Bag4	A	G	8: 25,768,108	V397A	probably damaging	Het
Brd7	A	G	8: 88,343,590	V396A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr4	T	A	9: 107,993,267	I123N	possibly damaging	Het
Cep68	A	G	11: 20,239,186	F609L	probably benign	Het
Clec3b	C	A	9: 123,151,113	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,102,412	T9S	probably benign	Het
Dalrd3	A	T	9: 108,571,526		probably benign	Het
Dock6	A	T	9: 21,841,926	V286E	possibly damaging	Het
Dpep2	G	A	8: 105,985,091	A568V	probably benign	Het
Dph5	A	C	3: 115,926,741	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,591,778	R37*	probably null	Het
Esyt1	A	G	10: 128,512,424	L865P	possibly damaging	Het
Exoc6b	A	G	6: 85,005,008	L102P	probably damaging	Het
Foxo6	A	G	4: 120,268,035	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,394,653		probably benign	Het
Hspa12b	A	G	2: 131,138,595	M145V	probably null	Het
Hspa4	A	T	11: 53,270,982	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,453,319	Y422H	probably benign	Het
Lama4	A	T	10: 39,061,445	D677V	probably benign	Het
Ldb1	C	T	19: 46,035,756	E111K	probably damaging	Het
Macf1	A	G	4: 123,387,236	S3823P	probably damaging	Het
Man1a2	G	A	3: 100,591,873	T415I	probably benign	Het
Map3k2	T	C	18: 32,200,046		probably benign	Het
Morn5	T	A	2: 36,055,026	Y87*	probably null	Het
Mpp3	T	C	11: 102,009,675	D326G	probably benign	Het
Mrgprx1	T	C	7: 48,021,588	H137R	probably benign	Het
Nav2	C	A	7: 49,452,512	P292T	probably damaging	Het
Nlrp2	C	A	7: 5,335,567		probably null	Het
Noxo1	G	A	17: 24,699,056	S112N	probably damaging	Het
Nudt9	G	T	5: 104,065,019	K319N	probably benign	Het
Olfr885	A	T	9: 38,061,937	I206L	probably benign	Het
Osbpl7	C	A	11: 97,067,702	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,132,163	E702D	probably benign	Het
Piezo2	T	C	18: 63,072,862	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,958,103	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,464,693	P141S	probably benign	Het
Prrt3	T	C	6: 113,497,016	T354A	probably damaging	Het
Ptk2	C	A	15: 73,320,826	W181L	probably benign	Het
Rif1	T	A	2: 52,105,515	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,704,064	V361L	probably benign	Het
Slamf7	A	G	1: 171,641,057	L89P	probably damaging	Het
Slc6a21	G	A	7: 45,288,081	V599M	probably damaging	Het
Sltm	G	T	9: 70,587,185	S921I	probably damaging	Het
Smc4	C	A	3: 69,006,211	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,259,943		probably benign	Het
Tead2	T	A	7: 45,217,421	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 85,071,799	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,320,239	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,882,287	P328T	possibly damaging	Het
Ttn	T	A	2: 76,745,988	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,974,189	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,703,329	L784S	possibly damaging	Het
Zfp703	T	C	8: 26,980,008	S567P	probably damaging	Het
Zfp750	A	G	11: 121,513,629	I140T	probably benign	Het

Other mutations in Hpx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Hpx	APN	7	105591770	missense	probably damaging	1.00
IGL01861:Hpx	APN	7	105592186	nonsense	probably null
IGL03117:Hpx	APN	7	105600071	missense	possibly damaging	0.94
IGL03230:Hpx	APN	7	105599312	missense	probably benign	0.04
IGL03376:Hpx	APN	7	105592251	unclassified	probably benign
IGL03392:Hpx	APN	7	105592402	missense	probably damaging	1.00
PIT4520001:Hpx	UTSW	7	105592134	missense	probably benign	0.00
R0138:Hpx	UTSW	7	105592238	missense	probably damaging	1.00
R0364:Hpx	UTSW	7	105596264	missense	probably benign	0.18
R1195:Hpx	UTSW	7	105599649	splice site	probably benign
R1195:Hpx	UTSW	7	105599649	splice site	probably benign
R1958:Hpx	UTSW	7	105596396	missense	probably damaging	1.00
R2007:Hpx	UTSW	7	105595574	missense	probably damaging	1.00
R2025:Hpx	UTSW	7	105595104	missense	probably damaging	1.00
R2173:Hpx	UTSW	7	105592083	missense	probably benign	0.01
R2207:Hpx	UTSW	7	105592426	missense	probably damaging	1.00
R3162:Hpx	UTSW	7	105599640	intron	probably benign
R3849:Hpx	UTSW	7	105596291	missense	probably damaging	1.00
R4206:Hpx	UTSW	7	105595147	missense	probably null	0.01
R4510:Hpx	UTSW	7	105592088	missense	possibly damaging	0.94
R4511:Hpx	UTSW	7	105592088	missense	possibly damaging	0.94
R4709:Hpx	UTSW	7	105600036	missense	probably benign	0.05
R5029:Hpx	UTSW	7	105591764	missense	probably damaging	1.00
R5540:Hpx	UTSW	7	105591912	missense	possibly damaging	0.67
R5631:Hpx	UTSW	7	105595601	missense	probably damaging	0.96
R5664:Hpx	UTSW	7	105595148	missense	probably benign	0.02
R5820:Hpx	UTSW	7	105591788	missense	possibly damaging	0.89
R5922:Hpx	UTSW	7	105595624	missense	probably damaging	1.00
R6707:Hpx	UTSW	7	105595475	missense	probably benign	0.09
R6714:Hpx	UTSW	7	105595095	missense	probably damaging	0.98
R7356:Hpx	UTSW	7	105591710	missense	probably damaging	0.99
R7425:Hpx	UTSW	7	105591861	missense	probably damaging	1.00
X0066:Hpx	UTSW	7	105596387	missense	probably benign	0.17

Posted On

2015-04-16