Incidental Mutation 'IGL00337:Hpx'
ID5180
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 #IGL00337
Quality Score
Status
Chromosome7
Chromosomal Location105591613-105600137 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105591770 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 432 (Y432C)
Ref Sequence ENSEMBL: ENSMUSP00000033185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033185] [ENSMUST00000210531]
Predicted Effect probably damaging
Transcript: ENSMUST00000033185
AA Change: Y432C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: Y432C

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A C 3: 127,820,751 probably benign Het
Ap1ar A T 3: 127,820,752 probably benign Het
Apip A T 2: 103,091,912 T208S probably benign Het
Arhgap11a A G 2: 113,841,942 V227A probably damaging Het
Atrn G T 2: 130,958,079 V459F probably damaging Het
Cep295 T C 9: 15,326,072 probably null Het
Cfhr1 A G 1: 139,556,515 probably benign Het
D5Ertd615e A G 5: 45,163,427 noncoding transcript Het
Dhx29 A G 13: 112,964,603 I1227V probably benign Het
Fam98a T C 17: 75,551,747 D16G probably damaging Het
Frk A G 10: 34,484,243 D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 H354Q probably damaging Het
Ggps1 G A 13: 14,054,388 S70L probably damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hyal2 T C 9: 107,572,172 C376R probably damaging Het
Il10rb G A 16: 91,406,339 A8T probably benign Het
Ing5 G T 1: 93,806,094 M1I probably null Het
Kcnc4 C T 3: 107,447,873 D420N probably benign Het
Kcnj8 T C 6: 142,570,235 N49D probably damaging Het
Kif26b C A 1: 178,915,648 A656D probably damaging Het
Klc4 T C 17: 46,635,435 E488G probably damaging Het
Mtmr4 C T 11: 87,611,924 H878Y probably benign Het
Ndufaf7 T C 17: 78,947,091 probably benign Het
Nlrp14 T G 7: 107,182,101 D168E possibly damaging Het
Ogdhl T C 14: 32,333,712 F251S probably damaging Het
Olfr59 T C 11: 74,289,387 V247A probably damaging Het
P2rx5 A T 11: 73,167,492 probably null Het
Parp14 G A 16: 35,841,075 T1501I probably benign Het
Prl3c1 C A 13: 27,200,763 T85K probably damaging Het
Psg27 A G 7: 18,561,804 Y239H probably damaging Het
Pzp T C 6: 128,516,909 R300G probably benign Het
Sec16a A G 2: 26,439,487 S839P probably benign Het
Sphkap T A 1: 83,339,608 D56V probably damaging Het
Srrt C T 5: 137,295,978 probably benign Het
Sstr3 T A 15: 78,540,467 T27S probably benign Het
Taf1d C A 9: 15,311,603 S255Y probably damaging Het
Tbc1d15 C A 10: 115,209,641 E473* probably null Het
Tmem247 T C 17: 86,917,535 V24A probably benign Het
Txnrd2 T C 16: 18,477,769 C494R probably damaging Het
Zfp180 A G 7: 24,085,469 D5G probably damaging Het
Other mutations in Hpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Hpx APN 7 105592186 nonsense probably null
IGL02441:Hpx APN 7 105592223 missense probably damaging 1.00
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 On2012-04-20