Incidental Mutation 'IGL02437:Heph'
ID 293318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heph
Ensembl Gene ENSMUSG00000031209
Gene Name hephaestin
Synonyms sex linked anemia, sla, C130006F04Rik, Cpl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02437
Quality Score
Status
Chromosome X
Chromosomal Location 95499042-95618091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95516633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 342 (T342A)
Ref Sequence ENSEMBL: ENSMUSP00000078301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033553] [ENSMUST00000079322] [ENSMUST00000113838]
AlphaFold Q9Z0Z4
Predicted Effect probably benign
Transcript: ENSMUST00000033553
AA Change: T342A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033553
Gene: ENSMUSG00000031209
AA Change: T342A

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 benign
Transcript: ENSMUST00000079322
AA Change: T342A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078301
Gene: ENSMUSG00000031209
AA Change: T342A

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 benign
Transcript: ENSMUST00000113838
AA Change: T342A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109469
Gene: ENSMUSG00000031209
AA Change: T342A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154413
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Heph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Heph APN X 95,571,284 (GRCm39) missense probably damaging 1.00
IGL01515:Heph APN X 95,601,706 (GRCm39) missense probably damaging 1.00
IGL03065:Heph APN X 95,571,173 (GRCm39) missense probably benign 0.35
R0555:Heph UTSW X 95,601,690 (GRCm39) missense probably damaging 1.00
R1864:Heph UTSW X 95,573,092 (GRCm39) missense probably damaging 1.00
R1871:Heph UTSW X 95,542,690 (GRCm39) missense probably benign 0.32
R4117:Heph UTSW X 95,544,221 (GRCm39) missense probably benign 0.00
Z1088:Heph UTSW X 95,509,637 (GRCm39) missense probably damaging 1.00
Z1176:Heph UTSW X 95,598,528 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16