Incidental Mutation 'IGL02108:Gpihbp1'
ID280046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpihbp1
Ensembl Gene ENSMUSG00000022579
Gene NameGPI-anchored HDL-binding protein 1
SynonymsGPI-HBP1, 1110002J19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02108
Quality Score
Status
Chromosome15
Chromosomal Location75596628-75599481 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75597612 bp
ZygosityHeterozygous
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]
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: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Gpihbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Gpihbp1 APN 15 75598128 intron probably benign
IGL03303:Gpihbp1 APN 15 75597978 nonsense probably null
R0056:Gpihbp1 UTSW 15 75597133 missense probably damaging 0.97
R0970:Gpihbp1 UTSW 15 75597946 missense probably benign 0.06
R4347:Gpihbp1 UTSW 15 75598168 makesense probably null
R5009:Gpihbp1 UTSW 15 75597721 intron probably benign
R7900:Gpihbp1 UTSW 15 75597942 missense probably benign 0.01
R7983:Gpihbp1 UTSW 15 75597942 missense probably benign 0.01
R8047:Gpihbp1 UTSW 15 75597778 missense possibly damaging 0.85
Posted On2015-04-16