Incidental Mutation 'IGL02108:Gpihbp1'
ID 280046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpihbp1
Ensembl Gene ENSMUSG00000022579
Gene Name GPI-anchored HDL-binding protein 1
Synonyms GPI-HBP1, 1110002J19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02108
Quality Score
Status
Chromosome 15
Chromosomal Location 75468479-75470062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75469461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 92 (V92A)
Ref Sequence ENSEMBL: ENSMUSP00000139792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023243] [ENSMUST00000189874] [ENSMUST00000189944]
AlphaFold Q9D1N2
Predicted Effect probably benign
Transcript: ENSMUST00000023243
AA Change: V92A

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023243
Gene: ENSMUSG00000022579
AA Change: V92A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 29 48 N/A INTRINSIC
LU 61 148 8.32e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186934
Predicted Effect probably benign
Transcript: ENSMUST00000189874
AA Change: V92A

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139792
Gene: ENSMUSG00000022579
AA Change: V92A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 29 48 N/A INTRINSIC
Blast:LU 61 107 9e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000189944
AA Change: V92A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139511
Gene: ENSMUSG00000022579
AA Change: V92A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 29 48 N/A INTRINSIC
Blast:LU 61 97 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190119
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit milky plasma due to increased triglyceride and cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Fntb A G 12: 76,934,631 (GRCm39) E167G possibly damaging Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
H2ac4 T C 13: 23,935,207 (GRCm39) V31A probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Lcn2 A T 2: 32,277,617 (GRCm39) L124Q probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Pklr A T 3: 89,044,710 (GRCm39) I63F probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Prkar1a C T 11: 109,558,351 (GRCm39) R357C probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Rras2 A G 7: 113,659,623 (GRCm39) I47T probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in Gpihbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gpihbp1 APN 15 75,469,977 (GRCm39) intron probably benign
IGL03303:Gpihbp1 APN 15 75,469,827 (GRCm39) nonsense probably null
R0056:Gpihbp1 UTSW 15 75,468,982 (GRCm39) missense probably damaging 0.97
R0970:Gpihbp1 UTSW 15 75,469,795 (GRCm39) missense probably benign 0.06
R4347:Gpihbp1 UTSW 15 75,470,017 (GRCm39) makesense probably null
R5009:Gpihbp1 UTSW 15 75,469,570 (GRCm39) intron probably benign
R7900:Gpihbp1 UTSW 15 75,469,791 (GRCm39) missense probably benign 0.01
R8047:Gpihbp1 UTSW 15 75,469,627 (GRCm39) missense possibly damaging 0.85
R8797:Gpihbp1 UTSW 15 75,469,828 (GRCm39) missense possibly damaging 0.72
R9095:Gpihbp1 UTSW 15 75,469,641 (GRCm39) missense possibly damaging 0.95
R9159:Gpihbp1 UTSW 15 75,469,830 (GRCm39) missense possibly damaging 0.85
R9608:Gpihbp1 UTSW 15 75,469,612 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16