Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

105240818-105249323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105241430 bp (GRCm39)

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]

AlphaFold

Q91X72

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: 97,029,504 (GRCm39)	R179C	probably benign	Het
Als2	A	G	1: 59,254,631 (GRCm39)	M242T	probably damaging	Het
Atad1	C	T	19: 32,684,348 (GRCm39)	V17I	probably benign	Het
Bag4	A	G	8: 26,258,136 (GRCm39)	V397A	probably damaging	Het
Brd7	A	G	8: 89,070,218 (GRCm39)	V396A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr4	T	A	9: 107,870,466 (GRCm39)	I123N	possibly damaging	Het
Cep68	A	G	11: 20,189,186 (GRCm39)	F609L	probably benign	Het
Clec3b	C	A	9: 122,980,178 (GRCm39)	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,339,869 (GRCm39)	T9S	probably benign	Het
Dalrd3	A	T	9: 108,448,725 (GRCm39)		probably benign	Het
Dock6	A	T	9: 21,753,222 (GRCm39)	V286E	possibly damaging	Het
Dpep2	G	A	8: 106,711,723 (GRCm39)	A568V	probably benign	Het
Dph5	A	C	3: 115,720,390 (GRCm39)	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,433,698 (GRCm39)	R37*	probably null	Het
Esyt1	A	G	10: 128,348,293 (GRCm39)	L865P	possibly damaging	Het
Exoc6b	A	G	6: 84,981,990 (GRCm39)	L102P	probably damaging	Het
Foxo6	A	G	4: 120,125,232 (GRCm39)	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,705,578 (GRCm39)		probably benign	Het
Hspa12b	A	G	2: 130,980,515 (GRCm39)	M145V	probably null	Het
Hspa4	A	T	11: 53,161,809 (GRCm39)	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,690,759 (GRCm39)	Y422H	probably benign	Het
Lama4	A	T	10: 38,937,441 (GRCm39)	D677V	probably benign	Het
Ldb1	C	T	19: 46,024,195 (GRCm39)	E111K	probably damaging	Het
Macf1	A	G	4: 123,281,029 (GRCm39)	S3823P	probably damaging	Het
Man1a2	G	A	3: 100,499,189 (GRCm39)	T415I	probably benign	Het
Map3k2	T	C	18: 32,333,099 (GRCm39)		probably benign	Het
Morn5	T	A	2: 35,945,038 (GRCm39)	Y87*	probably null	Het
Mpp3	T	C	11: 101,900,501 (GRCm39)	D326G	probably benign	Het
Mrgprx1	T	C	7: 47,671,336 (GRCm39)	H137R	probably benign	Het
Nav2	C	A	7: 49,102,260 (GRCm39)	P292T	probably damaging	Het
Nlrp2	C	A	7: 5,338,566 (GRCm39)		probably null	Het
Noxo1	G	A	17: 24,918,030 (GRCm39)	S112N	probably damaging	Het
Nudt9	G	T	5: 104,212,885 (GRCm39)	K319N	probably benign	Het
Or8b38	A	T	9: 37,973,233 (GRCm39)	I206L	probably benign	Het
Osbpl7	C	A	11: 96,958,528 (GRCm39)	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,280,282 (GRCm39)	E702D	probably benign	Het
Piezo2	T	C	18: 63,205,933 (GRCm39)	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,908,103 (GRCm39)	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,514,693 (GRCm39)	P141S	probably benign	Het
Prrt3	T	C	6: 113,473,977 (GRCm39)	T354A	probably damaging	Het
Ptk2	C	A	15: 73,192,675 (GRCm39)	W181L	probably benign	Het
Rif1	T	A	2: 51,995,527 (GRCm39)	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,611,371 (GRCm39)	V361L	probably benign	Het
Slamf7	A	G	1: 171,468,625 (GRCm39)	L89P	probably damaging	Het
Slc6a21	G	A	7: 44,937,505 (GRCm39)	V599M	probably damaging	Het
Sltm	G	T	9: 70,494,467 (GRCm39)	S921I	probably damaging	Het
Smc4	C	A	3: 68,913,544 (GRCm39)	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,087,513 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,866,845 (GRCm39)	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 84,902,143 (GRCm39)	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,197,438 (GRCm39)	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,724,207 (GRCm39)	P328T	possibly damaging	Het
Ttn	T	A	2: 76,576,332 (GRCm39)	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,794,552 (GRCm39)	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,610,611 (GRCm39)	L784S	possibly damaging	Het
Zfp703	T	C	8: 27,470,036 (GRCm39)	S567P	probably damaging	Het
Zfp750	A	G	11: 121,404,455 (GRCm39)	I140T	probably benign	Het

Other mutations in Hpx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Hpx	APN	7	105,240,977 (GRCm39)	missense	probably damaging	1.00
IGL01861:Hpx	APN	7	105,241,393 (GRCm39)	nonsense	probably null
IGL03117:Hpx	APN	7	105,249,278 (GRCm39)	missense	possibly damaging	0.94
IGL03230:Hpx	APN	7	105,248,519 (GRCm39)	missense	probably benign	0.04
IGL03376:Hpx	APN	7	105,241,458 (GRCm39)	unclassified	probably benign
IGL03392:Hpx	APN	7	105,241,609 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Hpx	UTSW	7	105,241,341 (GRCm39)	missense	probably benign	0.00
R0138:Hpx	UTSW	7	105,241,445 (GRCm39)	missense	probably damaging	1.00
R0364:Hpx	UTSW	7	105,245,471 (GRCm39)	missense	probably benign	0.18
R1195:Hpx	UTSW	7	105,248,856 (GRCm39)	splice site	probably benign
R1195:Hpx	UTSW	7	105,248,856 (GRCm39)	splice site	probably benign
R1958:Hpx	UTSW	7	105,245,603 (GRCm39)	missense	probably damaging	1.00
R2007:Hpx	UTSW	7	105,244,781 (GRCm39)	missense	probably damaging	1.00
R2025:Hpx	UTSW	7	105,244,311 (GRCm39)	missense	probably damaging	1.00
R2173:Hpx	UTSW	7	105,241,290 (GRCm39)	missense	probably benign	0.01
R2207:Hpx	UTSW	7	105,241,633 (GRCm39)	missense	probably damaging	1.00
R3162:Hpx	UTSW	7	105,248,847 (GRCm39)	intron	probably benign
R3849:Hpx	UTSW	7	105,245,498 (GRCm39)	missense	probably damaging	1.00
R4206:Hpx	UTSW	7	105,244,354 (GRCm39)	missense	probably null	0.01
R4510:Hpx	UTSW	7	105,241,295 (GRCm39)	missense	possibly damaging	0.94
R4511:Hpx	UTSW	7	105,241,295 (GRCm39)	missense	possibly damaging	0.94
R4709:Hpx	UTSW	7	105,249,243 (GRCm39)	missense	probably benign	0.05
R5029:Hpx	UTSW	7	105,240,971 (GRCm39)	missense	probably damaging	1.00
R5540:Hpx	UTSW	7	105,241,119 (GRCm39)	missense	possibly damaging	0.67
R5631:Hpx	UTSW	7	105,244,808 (GRCm39)	missense	probably damaging	0.96
R5664:Hpx	UTSW	7	105,244,355 (GRCm39)	missense	probably benign	0.02
R5820:Hpx	UTSW	7	105,240,995 (GRCm39)	missense	possibly damaging	0.89
R5922:Hpx	UTSW	7	105,244,831 (GRCm39)	missense	probably damaging	1.00
R6707:Hpx	UTSW	7	105,244,682 (GRCm39)	missense	probably benign	0.09
R6714:Hpx	UTSW	7	105,244,302 (GRCm39)	missense	probably damaging	0.98
R7356:Hpx	UTSW	7	105,240,917 (GRCm39)	missense	probably damaging	0.99
R7425:Hpx	UTSW	7	105,241,068 (GRCm39)	missense	probably damaging	1.00
R8048:Hpx	UTSW	7	105,244,685 (GRCm39)	missense	probably benign
R8184:Hpx	UTSW	7	105,241,352 (GRCm39)	missense	probably damaging	0.99
X0066:Hpx	UTSW	7	105,245,594 (GRCm39)	missense	probably benign	0.17

Posted On

2015-04-16