Incidental Mutation 'IGL02471:Hebp1'
ID 294728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hebp1
Ensembl Gene ENSMUSG00000042770
Gene Name heme binding protein 1
Synonyms p22 HBP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # IGL02471
Quality Score
Status
Chromosome 6
Chromosomal Location 135114517-135145213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135132274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 31 (Y31F)
Ref Sequence ENSEMBL: ENSMUSP00000042232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045855]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045855
AA Change: Y31F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000042232
Gene: ENSMUSG00000042770
AA Change: Y31F

DomainStartEndE-ValueType
Pfam:SOUL 13 188 2.1e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204730
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Hebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02957:Hebp1 APN 6 135,114,990 (GRCm39) missense probably benign
IGL03194:Hebp1 APN 6 135,132,190 (GRCm39) missense probably benign 0.02
R0352:Hebp1 UTSW 6 135,129,918 (GRCm39) missense possibly damaging 0.86
R6012:Hebp1 UTSW 6 135,145,055 (GRCm39) missense probably damaging 0.98
R8201:Hebp1 UTSW 6 135,114,906 (GRCm39) missense possibly damaging 0.90
R8725:Hebp1 UTSW 6 135,114,919 (GRCm39) missense probably damaging 1.00
R8778:Hebp1 UTSW 6 135,145,068 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16