Incidental Mutation 'IGL00951:Hp'
ID28043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hp
Ensembl Gene ENSMUSG00000031722
Gene Namehaptoglobin
SynonymsHP-1, preHP2, zonulin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL00951
Quality Score
Status
Chromosome8
Chromosomal Location109575128-109579172 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109577497 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 24 (D24G)
Ref Sequence ENSEMBL: ENSMUSP00000074436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000074898] [ENSMUST00000178445]
Predicted Effect probably benign
Transcript: ENSMUST00000034159
SMART Domains Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.6e-58 PFAM
Pfam:Thioredoxin 6 109 3.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000074898
AA Change: D24G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074436
Gene: ENSMUSG00000031722
AA Change: D24G

DomainStartEndE-ValueType
CCP 33 86 2.9e0 SMART
Tryp_SPc 102 340 4.38e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178445
SMART Domains Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.2e-58 PFAM
Pfam:Thioredoxin 6 110 2.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212918
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a plasma glycoprotein called haptoglobin that binds free hemoglobin. The encoded preproprotein undergoes proteolytic processing to generate alpha and beta subunits that form a disulfide-linked tetrameric protein that plays an important role in the sequestration and clearance of extracorpuscular hemoglobin. Mice lacking the encoded protein exhibit stunted development of lymphoid organs associated with lower counts of mature T and B cells in the blood and secondary lymphoid compartments. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele exhibit partial postnatal lethality, susceptibility to induced acute hemolysis, and altered renal iron loading during aging and after ischemic injury. Homozygotes for a knock-in allele show reduced cholesterol efflux and enhanced nephropathy in STZ-induced diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,505,704 R388L probably benign Het
Bcan T C 3: 87,994,174 E407G probably damaging Het
Brms1l A G 12: 55,866,049 I276V possibly damaging Het
Brpf1 C A 6: 113,322,553 D1182E probably damaging Het
Clpb A G 7: 101,751,260 M268V probably benign Het
Cpne8 A T 15: 90,601,893 probably benign Het
Ddx25 A T 9: 35,552,835 probably null Het
Dgki A G 6: 37,000,159 M672T probably damaging Het
Fhdc1 T C 3: 84,464,313 T112A possibly damaging Het
Galnt7 A T 8: 57,583,824 M177K probably damaging Het
Gucy1a1 T C 3: 82,111,191 D113G probably benign Het
Jak2 A G 19: 29,299,583 R847G probably damaging Het
Lama2 A T 10: 27,030,285 D2391E probably benign Het
Mpzl1 A G 1: 165,605,822 F87L probably damaging Het
Ms4a4d A T 19: 11,554,921 I144F probably benign Het
Olfr152 A T 2: 87,782,539 I2F probably benign Het
Olfr186 G A 16: 59,027,853 T18I probably benign Het
Olfr191 A C 16: 59,086,393 L30R possibly damaging Het
Olfr214 G A 6: 116,557,066 V214I probably benign Het
Olfr818 A G 10: 129,945,712 S2P probably damaging Het
Prr16 A G 18: 51,303,339 R297G probably damaging Het
Ralgps1 A C 2: 33,273,602 L148V probably damaging Het
Rara A G 11: 98,968,166 D150G probably benign Het
Rb1 A T 14: 73,322,072 V64D probably damaging Het
Ros1 A G 10: 52,143,252 Y742H probably damaging Het
Rpl7a A G 2: 26,912,429 D160G possibly damaging Het
Sdccag8 A G 1: 176,878,002 M461V possibly damaging Het
Tagln T A 9: 45,930,872 N141I probably benign Het
Tas2r137 A T 6: 40,491,979 R248* probably null Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ulk1 A G 5: 110,792,404 C384R possibly damaging Het
Ush2a A T 1: 188,263,465 E144D probably benign Het
Vkorc1l1 C T 5: 129,982,267 T144I probably benign Het
Zfp235 T C 7: 24,137,080 F17S probably damaging Het
Other mutations in Hp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Hp APN 8 109575618 unclassified probably null
IGL01013:Hp APN 8 109579021 utr 5 prime probably benign
IGL01096:Hp APN 8 109575401 missense probably benign
IGL01307:Hp APN 8 109575783 missense probably benign 0.05
IGL02997:Hp APN 8 109575786 missense probably damaging 1.00
IGL03378:Hp APN 8 109575707 missense probably damaging 0.99
R1349:Hp UTSW 8 109575306 missense probably benign 0.00
R1691:Hp UTSW 8 109575572 missense probably benign 0.09
R4741:Hp UTSW 8 109575472 nonsense probably null
R6036:Hp UTSW 8 109576774 unclassified probably null
R6036:Hp UTSW 8 109576774 unclassified probably null
R6689:Hp UTSW 8 109575720 missense probably benign 0.00
R7426:Hp UTSW 8 109575200 utr 3 prime probably null
R7683:Hp UTSW 8 109579099 start gained probably benign
Posted On2013-04-17