Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Hpx'

30229

Institutional Source

Beutler Lab

Gene Symbol

Hpx

Ensembl Gene

ENSMUSG00000030895

Gene Name

hemopexin

Synonyms

Hpxn, hx

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0364 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

105240818-105249323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105245471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 101 (Q101K)

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: Q162K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: Q162K

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: Q101K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0706

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	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
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
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'- GCCAAGCAAGGAACACAAGTCTGTC -3'
(R):5'- TGCACTGCATCTGGAGGTGAAC -3'

Sequencing Primer
(F):5'- TCTGTCCCAGGGCATGAG -3'
(R):5'- ACGGTTCCCAAGACAGTG -3'

Posted On

2013-04-24