Incidental Mutation 'R2173:Hpx'
ID 237620
Institutional Source Beutler Lab
Gene Symbol Hpx
Ensembl Gene ENSMUSG00000030895
Gene Name hemopexin
Synonyms Hpxn, hx
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 105240818-105249323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105241290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 374 (S374T)
Ref Sequence ENSEMBL: ENSMUSP00000033185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033185] [ENSMUST00000210531]
AlphaFold Q91X72
Predicted Effect probably benign
Transcript: ENSMUST00000033185
AA Change: S374T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: S374T

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T 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
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'- GAAACCTCTGTCCATGTTGCC -3'
(R):5'- GGGACAAGGCTATACAGGTCTATG -3'

Sequencing Primer
(F):5'- ATGTTGCCTGGGCTCCTGAC -3'
(R):5'- AGGCTATACAGGTCTATGTTGATTAC -3'
Posted On 2014-10-02