Incidental Mutation 'R6012:Hebp1'
ID 479811
Institutional Source Beutler Lab
Gene Symbol Hebp1
Ensembl Gene ENSMUSG00000042770
Gene Name heme binding protein 1
Synonyms p22 HBP
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R6012 (G1)
Quality Score 201.009
Status Validated
Chromosome 6
Chromosomal Location 135114517-135145213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135145055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 14 (E14V)
Ref Sequence ENSEMBL: ENSMUSP00000042232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045855]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045855
AA Change: E14V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042232
Gene: ENSMUSG00000042770
AA Change: E14V

DomainStartEndE-ValueType
Pfam:SOUL 13 188 2.1e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205232
Meta Mutation Damage Score 0.6577 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Adrm1b C A 3: 92,336,791 (GRCm39) probably null Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Ghr T C 15: 3,370,409 (GRCm39) D152G probably damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hsd3b2 A T 3: 98,619,333 (GRCm39) M204K probably benign Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Kcnc3 A G 7: 44,248,296 (GRCm39) D757G probably benign Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Mrps28 A G 3: 8,965,044 (GRCm39) probably null Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Pcdh12 A G 18: 38,416,805 (GRCm39) S107P probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging Het
Other mutations in Hebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Hebp1 APN 6 135,132,274 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- GATGGATCCTTTTCCGCGTC -3'
(R):5'- TACAGGCTTGAACCAGCTCC -3'

Sequencing Primer
(F):5'- TCCTTCCCAGAGCAAGCG -3'
(R):5'- AGGAGACTGGGCTCACGTG -3'
Posted On 2017-06-26