Incidental Mutation 'IGL00486:Heph'
ID3108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heph
Ensembl Gene ENSMUSG00000031209
Gene Namehephaestin
Synonymssla, Cpl, sex linked anemia, C130006F04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00486
Quality Score
Status
ChromosomeX
Chromosomal Location96455359-96574485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96527678 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 748 (D748V)
Ref Sequence ENSEMBL: ENSMUSP00000109469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033553] [ENSMUST00000079322] [ENSMUST00000113838]
Predicted Effect probably damaging
Transcript: ENSMUST00000033553
AA Change: D748V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033553
Gene: ENSMUSG00000031209
AA Change: D748V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 95 209 6.1e-10 PFAM
Blast:FA58C 252 372 4e-7 BLAST
Pfam:Cu-oxidase_3 450 562 2e-8 PFAM
Pfam:Cu-oxidase_3 806 905 1e-7 PFAM
Pfam:Cu-oxidase_2 942 1065 7.5e-17 PFAM
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1134 1143 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000079322
AA Change: D706V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078301
Gene: ENSMUSG00000031209
AA Change: D706V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 95 209 2.6e-10 PFAM
Blast:FA58C 252 372 3e-7 BLAST
Pfam:Cu-oxidase_3 439 509 6.4e-7 PFAM
internal_repeat_1 688 798 9.28e-22 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000113838
AA Change: D748V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109469
Gene: ENSMUSG00000031209
AA Change: D748V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 96 209 7.5e-10 PFAM
Blast:FA58C 252 372 4e-7 BLAST
Pfam:Cu-oxidase_3 439 562 1.8e-8 PFAM
Pfam:Cu-oxidase_3 806 905 8.2e-8 PFAM
Pfam:Cu-oxidase_2 941 1065 6.3e-16 PFAM
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1134 1143 N/A INTRINSIC
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 member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,853 T576A probably damaging Het
As3mt A G 19: 46,720,425 E286G probably benign Het
Baiap3 G T 17: 25,248,377 probably benign Het
C1qc T C 4: 136,890,134 E217G probably damaging Het
Ccser2 A G 14: 36,940,064 Y388H probably damaging Het
Clcn7 C A 17: 25,151,123 A328D probably damaging Het
Clstn1 G A 4: 149,635,243 R415Q probably damaging Het
Hcn4 T C 9: 58,860,053 S966P unknown Het
Herc1 C T 9: 66,476,120 T3691I probably benign Het
Hsd17b14 A G 7: 45,566,713 T236A possibly damaging Het
Kif28 C A 1: 179,702,516 L693F probably damaging Het
Mnd1 T C 3: 84,138,198 E33G possibly damaging Het
Nbas T G 12: 13,453,075 D1520E probably benign Het
Poli C T 18: 70,525,490 G81R probably damaging Het
Pou6f2 G A 13: 18,139,585 S401F probably damaging Het
Ppp1r3c G A 19: 36,733,924 R149W probably damaging Het
Ptprc C A 1: 138,115,621 C64F probably damaging Het
Ptprz1 T C 6: 22,973,054 Y274H probably damaging Het
Ranbp2 T A 10: 58,477,612 L1385I probably benign Het
Sgms1 A T 19: 32,159,625 F180L probably damaging Het
Slc7a9 T A 7: 35,460,887 M396K probably damaging Het
Syt17 T C 7: 118,434,290 D165G probably damaging Het
Tnxb T C 17: 34,692,382 L1553P probably damaging Het
Trim31 C A 17: 36,909,241 Q350K probably benign Het
Wnk3 A G X: 151,233,029 R494G probably damaging Het
Zmym6 A G 4: 127,124,185 probably benign Het
Other mutations in Heph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Heph APN X 96558100 missense probably damaging 1.00
IGL02437:Heph APN X 96473027 missense probably benign 0.09
IGL03065:Heph APN X 96527567 missense probably benign 0.35
R0555:Heph UTSW X 96558084 missense probably damaging 1.00
R1864:Heph UTSW X 96529486 missense probably damaging 1.00
R1871:Heph UTSW X 96499084 missense probably benign 0.32
R4117:Heph UTSW X 96500615 missense probably benign 0.00
Z1088:Heph UTSW X 96466031 missense probably damaging 1.00
Z1176:Heph UTSW X 96554922 missense probably damaging 0.99
Posted On2012-04-20