Incidental Mutation 'IGL02441:Hpx'
ID293977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpx
Ensembl Gene ENSMUSG00000030895
Gene Namehemopexin
SynonymsHpxn, hx
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02441
Quality Score
Status
Chromosome7
Chromosomal Location105591613-105600137 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105592223 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2015-04-16