Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Hpx'

22105

Institutional Source

Beutler Lab

Gene Symbol

Hpx

Ensembl Gene

ENSMUSG00000030895

Gene Name

hemopexin

Synonyms

Hpxn, hx

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105240818-105249323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105241445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 322 (T322I)

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: T322I

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

SMART Domains

Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: T322I

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

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,098 (GRCm39)	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,841,454 (GRCm39)	V845D	probably damaging	Het
Anxa8	T	A	14: 33,819,896 (GRCm39)	F269Y	probably benign	Het
Anxa8	T	A	14: 33,819,897 (GRCm39)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,268,025 (GRCm39)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,559,617 (GRCm39)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm39)		probably benign	Het
Arhgef26	C	T	3: 62,355,680 (GRCm39)	H751Y	probably benign	Het
Asic4	A	T	1: 75,446,331 (GRCm39)	Q291L	possibly damaging	Het
Bap1	T	C	14: 30,978,681 (GRCm39)	Y31H	probably damaging	Het
Brf1	A	T	12: 112,924,759 (GRCm39)	V655D	probably damaging	Het
Cebpz	A	G	17: 79,238,820 (GRCm39)	S663P	probably benign	Het
Ces2h	A	G	8: 105,744,693 (GRCm39)	D357G	probably benign	Het
Cfap36	T	C	11: 29,194,073 (GRCm39)	T90A	probably benign	Het
Ciita	A	T	16: 10,330,134 (GRCm39)	D803V	probably damaging	Het
Clnk	C	A	5: 38,931,951 (GRCm39)		probably benign	Het
Cyp46a1	A	G	12: 108,317,470 (GRCm39)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 33,160,080 (GRCm39)	I98T	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dll3	T	A	7: 28,000,746 (GRCm39)	D103V	possibly damaging	Het
Dnai1	T	A	4: 41,629,814 (GRCm39)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,111,425 (GRCm39)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,494,095 (GRCm39)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fn1	T	A	1: 71,663,269 (GRCm39)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 48,180,104 (GRCm39)	D599G	unknown	Het
Frrs1	T	C	3: 116,675,456 (GRCm39)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,926,935 (GRCm39)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,350,317 (GRCm39)		probably benign	Het
Gm5148	T	C	3: 37,768,926 (GRCm39)	E98G	probably benign	Het
Gpr141	T	C	13: 19,936,428 (GRCm39)	I116V	probably benign	Het
Hic1	T	C	11: 75,058,169 (GRCm39)	N240S	probably damaging	Het
Hs3st4	A	T	7: 123,996,416 (GRCm39)	M361L	probably benign	Het
Ifrd1	A	G	12: 40,257,129 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 43,755,319 (GRCm39)	C173S	probably damaging	Het
Krt25	A	T	11: 99,213,524 (GRCm39)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,092,267 (GRCm39)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,901,345 (GRCm39)	V550E	probably benign	Het
Macf1	A	G	4: 123,334,540 (GRCm39)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,174,281 (GRCm39)		probably benign	Het
Mcm5	T	A	8: 75,847,508 (GRCm39)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,975,831 (GRCm39)	R478C	probably damaging	Het
Med10	T	C	13: 69,959,817 (GRCm39)		probably benign	Het
Mrpl4	T	C	9: 20,919,888 (GRCm39)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,687,892 (GRCm39)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,551,827 (GRCm39)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,143,204 (GRCm39)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,685,138 (GRCm39)	R81W	probably damaging	Het
Neil1	T	C	9: 57,051,030 (GRCm39)		probably benign	Het
Neto2	A	G	8: 86,367,673 (GRCm39)	I357T	possibly damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,643,607 (GRCm39)	S3P	probably benign	Het
Or52h7	A	T	7: 104,214,210 (GRCm39)	I261L	probably benign	Het
Plce1	T	C	19: 38,512,863 (GRCm39)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,355,267 (GRCm39)		probably benign	Het
Psapl1	T	A	5: 36,361,975 (GRCm39)	V189E	probably damaging	Het
Ptdss2	T	G	7: 140,735,232 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,307,322 (GRCm39)	C661R	probably benign	Het
Rpap1	T	C	2: 119,595,380 (GRCm39)		probably null	Het
Rrp1b	A	G	17: 32,279,426 (GRCm39)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,377,982 (GRCm39)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,305,260 (GRCm39)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,183,885 (GRCm39)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,701,679 (GRCm39)		probably benign	Het
Tpst1	T	A	5: 130,130,627 (GRCm39)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,818,600 (GRCm39)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,378,514 (GRCm39)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,482,596 (GRCm39)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,487,048 (GRCm39)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,637,863 (GRCm39)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,326,053 (GRCm39)	M328L	probably benign	Het
Zp2	A	G	7: 119,736,423 (GRCm39)	F340S	probably damaging	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
IGL02441:Hpx	APN	7	105,241,430 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTCACCTGATGAGACATAGAGCC -3'
(R):5'- TGTCCGTCCCTTCACTACGAAAGC -3'

Sequencing Primer
(F):5'- CCTGGAAGAACCAGGGC -3'
(R):5'- ATGGCATAGCTGGCCCATTG -3'

Posted On

2013-04-12