Incidental Mutation 'IGL03117:Hpx'
ID419496
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 #IGL03117
Quality Score
Status
Chromosome7
Chromosomal Location105591613-105600137 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 105600071 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 7 (A7E)
Ref Sequence ENSEMBL: ENSMUSP00000147802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033185] [ENSMUST00000106791] [ENSMUST00000210531]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033185
AA Change: A7E

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033185
Gene: ENSMUSG00000030895
AA Change: A7E

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: ENSMUST00000106791
SMART Domains Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989

DomainStartEndE-ValueType
RING 22 62 6.43e-8 SMART
BBOX 110 151 7.54e-14 SMART
BBC 158 284 2.55e-42 SMART
IG_FLMN 321 421 1.06e-31 SMART
Pfam:NHL 486 513 3.4e-8 PFAM
Pfam:NHL 533 560 7.6e-10 PFAM
Pfam:NHL 575 602 4.4e-7 PFAM
Pfam:NHL 622 649 7.6e-10 PFAM
Pfam:NHL 669 696 2.7e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210531
AA Change: A7E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,467,952 L109P probably damaging Het
Caprin2 A T 6: 148,862,466 S568T possibly damaging Het
Catip A G 1: 74,364,585 T154A probably null Het
Ccdc129 A G 6: 55,898,129 T355A probably benign Het
Ccdc187 A G 2: 26,287,968 S270P possibly damaging Het
Ccdc88a A G 11: 29,374,559 Y39C probably damaging Het
Chrdl2 A T 7: 100,027,580 H203L possibly damaging Het
Chrnb2 A G 3: 89,763,245 V62A probably damaging Het
Cklf T A 8: 104,257,423 S73T possibly damaging Het
Clk1 A G 1: 58,417,007 probably null Het
Ctdp1 T C 18: 80,449,501 D593G probably damaging Het
Ctsc A T 7: 88,309,780 I423F probably damaging Het
D130043K22Rik T A 13: 24,889,842 V968E probably damaging Het
Dennd4c A G 4: 86,777,903 S166G possibly damaging Het
Dnah2 G T 11: 69,436,291 probably benign Het
Dnajb11 G T 16: 22,869,138 R206L probably benign Het
Dsel A T 1: 111,859,178 probably benign Het
Ehd2 T C 7: 15,950,471 S468G possibly damaging Het
Ehmt2 T A 17: 34,906,811 V640E possibly damaging Het
Elmo2 T A 2: 165,298,653 E299D probably benign Het
Eps8l1 T C 7: 4,470,887 L231P probably damaging Het
Esd A G 14: 74,741,246 T83A probably damaging Het
Flt3 A G 5: 147,356,210 F529L probably benign Het
Hnrnpu G A 1: 178,330,774 probably benign Het
Ighv6-5 C T 12: 114,416,700 V85M possibly damaging Het
Itpr3 G A 17: 27,119,266 V2503I probably damaging Het
Matr3 G T 18: 35,572,657 G212C probably damaging Het
Mrpl35 A T 6: 71,816,279 Y129* probably null Het
Myh2 T C 11: 67,180,884 I509T possibly damaging Het
Nat8l G T 5: 34,000,944 A233S probably damaging Het
Nipbl A C 15: 8,332,452 L1447W probably damaging Het
Paf1 T A 7: 28,395,056 C31S possibly damaging Het
Parp4 A C 14: 56,602,856 T573P probably benign Het
Phf12 A T 11: 78,023,020 probably benign Het
Pi4k2b A G 5: 52,748,423 E102G probably benign Het
Pou2f1 A G 1: 165,934,813 C7R probably benign Het
Prpsap2 T C 11: 61,740,989 R181G probably benign Het
Psd A G 19: 46,323,122 probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rab21 A T 10: 115,315,192 probably null Het
Relb T C 7: 19,612,657 D330G probably damaging Het
Rhoc A T 3: 104,792,920 T100S probably benign Het
Ryr1 G T 7: 29,102,964 H744N probably damaging Het
Sardh C T 2: 27,239,446 G280D probably damaging Het
Scyl2 A C 10: 89,657,867 N346K possibly damaging Het
Sec16b T C 1: 157,535,400 F267S probably damaging Het
Slc44a5 T A 3: 154,251,077 M322K probably benign Het
St8sia4 T A 1: 95,591,783 N327Y probably benign Het
Tbl1xr1 T A 3: 22,203,159 Y395* probably null Het
Unc13c A T 9: 73,534,025 S1897R probably benign Het
Vangl2 A G 1: 172,012,848 S58P probably damaging Het
Vmn1r17 A G 6: 57,360,516 I288T probably benign Het
Vmn1r236 A G 17: 21,287,246 I209V probably benign Het
Zfp809 A G 9: 22,238,654 Y149C probably damaging 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
IGL02441:Hpx APN 7 105592223 missense probably damaging 1.00
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 On2016-08-02