Incidental Mutation 'R5029:Hpx'
ID 391560
Institutional Source Beutler Lab
Gene Symbol Hpx
Ensembl Gene ENSMUSG00000030895
Gene Name hemopexin
Synonyms Hpxn, hx
MMRRC Submission 042620-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5029 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105240818-105249323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 105240971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 434 (Y434S)
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: Y434S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: Y434S

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
Meta Mutation Damage Score 0.6115 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 97% (61/63)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,127 (GRCm39) M154K probably benign Het
Ank T C 15: 27,590,439 (GRCm39) V341A probably benign Het
Bnip3 T A 7: 138,499,848 (GRCm39) probably benign Het
C1galt1 A G 6: 7,863,931 (GRCm39) K4E possibly damaging Het
Cbs T A 17: 31,834,456 (GRCm39) Q511L possibly damaging Het
Ccdc117 T C 11: 5,484,897 (GRCm39) H109R possibly damaging Het
Cdh4 T A 2: 179,523,742 (GRCm39) V440D possibly damaging Het
Cnot4 T C 6: 35,054,962 (GRCm39) N109S probably damaging Het
Dact2 A T 17: 14,416,114 (GRCm39) S695R probably benign Het
Defa21 A T 8: 21,516,381 (GRCm39) E75V probably damaging Het
Dimt1 A G 13: 107,093,630 (GRCm39) D274G probably null Het
Dstyk G T 1: 132,377,062 (GRCm39) V223L probably benign Het
Dync1h1 T A 12: 110,584,444 (GRCm39) S616T possibly damaging Het
Fer1l6 A T 15: 58,515,769 (GRCm39) I1619F probably benign Het
Gm4744 T A 6: 40,926,341 (GRCm39) Y83F probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Ints4 A G 7: 97,158,981 (GRCm39) D451G probably benign Het
Itgb4 A T 11: 115,879,417 (GRCm39) probably benign Het
Jph1 T A 1: 17,161,615 (GRCm39) N349I possibly damaging Het
Klrg1 A G 6: 122,259,694 (GRCm39) L26P probably benign Het
M1ap A C 6: 82,980,813 (GRCm39) D233A probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mycbp2 A G 14: 103,393,946 (GRCm39) S2762P probably benign Het
Myh11 T A 16: 14,023,489 (GRCm39) Q1556L probably damaging Het
N4bp2 A G 5: 65,972,123 (GRCm39) D1428G probably damaging Het
Ndc80 A C 17: 71,815,760 (GRCm39) C342G probably benign Het
Nxn A C 11: 76,165,356 (GRCm39) Y199* probably null Het
Or6c206 T A 10: 129,097,707 (GRCm39) N292K probably benign Het
Or7c19 C T 8: 85,957,835 (GRCm39) A237V probably benign Het
Or8j3b A G 2: 86,205,234 (GRCm39) I174T probably damaging Het
Pacs1 A G 19: 5,192,299 (GRCm39) F691L probably benign Het
Pcdhga12 T C 18: 37,899,864 (GRCm39) V232A probably benign Het
Pik3cb A T 9: 98,936,113 (GRCm39) M773K probably damaging Het
Plxnb1 T C 9: 108,943,723 (GRCm39) Y1937H probably damaging Het
Ppfia2 C A 10: 106,693,304 (GRCm39) T603N probably benign Het
Psg22 A G 7: 18,453,662 (GRCm39) Y119C probably damaging Het
Saraf G T 8: 34,628,412 (GRCm39) R86L probably damaging Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stpg3 T C 2: 25,104,576 (GRCm39) N13S probably damaging Het
Taf1a T A 1: 183,177,273 (GRCm39) D50E possibly damaging Het
Tlr1 T A 5: 65,083,024 (GRCm39) N518Y probably damaging Het
Tnik G A 3: 28,719,993 (GRCm39) probably null Het
Tomm70a T A 16: 56,942,514 (GRCm39) L97Q probably benign Het
Vmn2r97 T A 17: 19,168,173 (GRCm39) V809E probably damaging Het
Vps13d T C 4: 144,882,852 (GRCm39) I914V probably benign Het
Zfyve26 A T 12: 79,333,097 (GRCm39) H291Q probably damaging Het
Zmynd15 G T 11: 70,353,387 (GRCm39) C334F probably damaging Het
Other mutations in Hpx
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGATGGCGCTGCTTCATTG -3'
(R):5'- TTGTCTTCTTCCCAGGACGG -3'

Sequencing Primer
(F):5'- ACGTTGGGCTGCTCATAAC -3'
(R):5'- CCAGGACGGCGGCTTTG -3'
Posted On 2016-06-06