Mutagenetix > Incidental Mutation

Incidental Mutation 'R5664:Hpx'

444266

Institutional Source

Beutler Lab

Gene Symbol

Hpx

Ensembl Gene

ENSMUSG00000030895

Gene Name

hemopexin

Synonyms

Hpxn, hx

MMRRC Submission

043307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5664 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

105240818-105249323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105244355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 190 (M190K)

Ref Sequence

ENSEMBL: ENSMUSP00000147802 (fasta)

Gene Model

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

AlphaFold

Q91X72

Predicted Effect

probably benign
Transcript: ENSMUST00000033185
AA Change: M251K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: M251K

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
AA Change: M190K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,977 (GRCm39)		probably null	Het
9430015G10Rik	T	A	4: 156,208,016 (GRCm39)	L112H	probably damaging	Het
Acaca	T	C	11: 84,134,210 (GRCm39)	L441P	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arsj	A	T	3: 126,232,306 (GRCm39)	I351F	probably damaging	Het
Atp6v1b2	A	G	8: 69,560,272 (GRCm39)	T373A	probably damaging	Het
Atr	C	A	9: 95,787,866 (GRCm39)	N1486K	probably benign	Het
Avl9	T	C	6: 56,730,824 (GRCm39)	S583P	probably damaging	Het
Bptf	A	T	11: 106,964,525 (GRCm39)	D1493E	probably benign	Het
Brme1	A	T	8: 84,893,288 (GRCm39)	I152F	probably benign	Het
C2cd2l	T	C	9: 44,225,069 (GRCm39)	E548G	probably damaging	Het
Capn3	G	A	2: 120,307,506 (GRCm39)	R15Q	probably benign	Het
Ccl3	A	G	11: 83,540,039 (GRCm39)	F22S	probably benign	Het
Clcf1	T	C	19: 4,272,150 (GRCm39)	F69S	probably damaging	Het
Col13a1	T	C	10: 61,686,895 (GRCm39)	E170G	probably damaging	Het
Dhx29	T	A	13: 113,083,413 (GRCm39)	F489L	probably damaging	Het
Dhx8	A	T	11: 101,631,577 (GRCm39)	N390I	probably damaging	Het
Dkk1	T	A	19: 30,526,189 (GRCm39)	Y135F	probably benign	Het
Edil3	G	T	13: 89,467,832 (GRCm39)	V446F	probably damaging	Het
Epha5	T	A	5: 84,479,725 (GRCm39)	E93V	probably damaging	Het
Epsti1	C	T	14: 78,201,104 (GRCm39)	T196I	possibly damaging	Het
Fras1	T	C	5: 96,876,394 (GRCm39)	S2376P	possibly damaging	Het
Frem2	A	G	3: 53,559,911 (GRCm39)	V1532A	probably benign	Het
Fsip2	T	A	2: 82,818,439 (GRCm39)	M4724K	probably benign	Het
Gcat	T	A	15: 78,927,273 (GRCm39)	L238Q	probably damaging	Het
Gimap6	T	C	6: 48,679,209 (GRCm39)	K276E	probably benign	Het
Gjb5	T	A	4: 127,249,722 (GRCm39)	I141F	probably benign	Het
Glt6d1	T	C	2: 25,704,192 (GRCm39)	I7V	probably benign	Het
Gtf2h5	G	A	17: 6,134,799 (GRCm39)	G30R	probably damaging	Het
Herc6	C	A	6: 57,595,669 (GRCm39)	T449K	probably benign	Het
Hpn	A	T	7: 30,798,687 (GRCm39)	Y132N	probably damaging	Het
Inf2	A	G	12: 112,578,162 (GRCm39)	H1151R	unknown	Het
Krt74	A	G	15: 101,669,014 (GRCm39)		noncoding transcript	Het
Loxl3	G	A	6: 83,026,863 (GRCm39)	S564N	probably benign	Het
Map7	T	A	10: 20,143,105 (GRCm39)	V418E	unknown	Het
Mrpl37	T	C	4: 106,921,588 (GRCm39)	N214D	probably benign	Het
Mthfr	T	C	4: 148,139,923 (GRCm39)	Y656H	probably damaging	Het
Myo9b	A	G	8: 71,812,526 (GRCm39)	D2099G	probably benign	Het
Nktr	T	A	9: 121,578,483 (GRCm39)	C825*	probably null	Het
Nomo1	A	G	7: 45,725,581 (GRCm39)	E1029G	probably benign	Het
Nup133	T	C	8: 124,633,020 (GRCm39)	D1037G	probably benign	Het
Or4b12	A	G	2: 90,095,959 (GRCm39)	F272L	probably damaging	Het
Or5w22	T	C	2: 87,363,178 (GRCm39)	L267P	probably benign	Het
Pcdhb14	T	A	18: 37,582,049 (GRCm39)	V385D	possibly damaging	Het
Pik3c2g	T	C	6: 139,682,733 (GRCm39)	L38P	probably damaging	Het
Pkd1	A	T	17: 24,788,345 (GRCm39)	D701V	probably damaging	Het
Pnpla6	A	G	8: 3,587,478 (GRCm39)	T1070A	probably damaging	Het
Ppl	T	C	16: 4,923,919 (GRCm39)	D185G	probably benign	Het
Prp2rt	C	A	13: 97,235,629 (GRCm39)	L39F	probably damaging	Het
Prss1l	C	T	6: 41,371,605 (GRCm39)	P17L	probably benign	Het
Prune1	A	T	3: 95,165,489 (GRCm39)	L261Q	probably damaging	Het
Qser1	A	T	2: 104,608,541 (GRCm39)	L1444I	probably damaging	Het
Serpina6	A	C	12: 103,620,726 (GRCm39)	C8G	probably damaging	Het
Sla2	A	T	2: 156,716,919 (GRCm39)	D180E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Snhg16	A	T	11: 116,563,490 (GRCm39)	T27S	possibly damaging	Het
Tbx3	A	G	5: 119,816,796 (GRCm39)	K311R	possibly damaging	Het
Tdpoz6	A	G	3: 93,599,994 (GRCm39)	F125S	probably benign	Het
Thbs2	A	T	17: 14,910,099 (GRCm39)	C167S	probably damaging	Het
Trak1	T	A	9: 121,301,373 (GRCm39)	C710S	possibly damaging	Het
Tsks	G	A	7: 44,603,208 (GRCm39)	E337K	probably damaging	Het
Vcpip1	A	G	1: 9,816,604 (GRCm39)	I593T	probably damaging	Het
Vmn2r118	A	G	17: 55,899,765 (GRCm39)	I713T	possibly damaging	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r68	A	T	7: 84,882,978 (GRCm39)	M258K	probably benign	Het
Vmn2r76	A	G	7: 85,895,202 (GRCm39)		probably null	Het
Wap	A	G	11: 6,588,609 (GRCm39)	I5T	possibly damaging	Het
Zfp235	A	C	7: 23,841,576 (GRCm39)	H665P	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
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
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'- GGTTGGACTATGAACCTGAGG -3'
(R):5'- AGGAGAAGCCCACATTCCTC -3'

Sequencing Primer
(F):5'- TTGGACTATGAACCTGAGGAGATG -3'
(R):5'- CTCCTACCCAGTGTGTGTGTG -3'

Posted On

2016-11-09