Incidental Mutation 'IGL01321:Hdlbp'
ID 74032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdlbp
Ensembl Gene ENSMUSG00000034088
Gene Name high density lipoprotein (HDL) binding protein
Synonyms 1110005P14Rik, D1Ertd101e
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # IGL01321
Quality Score
Status
Chromosome 1
Chromosomal Location 93333662-93406537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93351524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 460 (R460W)
Ref Sequence ENSEMBL: ENSMUSP00000139671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164]
AlphaFold Q8VDJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000042498
AA Change: R529W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: R529W

DomainStartEndE-ValueType
KH 149 217 1.97e-15 SMART
KH 221 289 1.8e-9 SMART
KH 294 362 1.73e-11 SMART
KH 363 429 2.66e-12 SMART
KH 434 502 9.18e-16 SMART
KH 506 575 7.52e-12 SMART
KH 580 648 7.68e-18 SMART
KH 652 721 3.24e-16 SMART
KH 726 795 1.33e-12 SMART
KH 799 868 2.48e-12 SMART
KH 872 972 3.03e-16 SMART
KH 973 1039 4.56e-11 SMART
KH 1051 1122 3.67e-15 SMART
KH 1126 1195 3.37e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000096427
SMART Domains Protein: ENSMUSP00000126949
Gene: ENSMUSG00000090489

DomainStartEndE-ValueType
low complexity region 7 30 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 124 218 8.2e-25 PFAM
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170883
AA Change: R529W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: R529W

DomainStartEndE-ValueType
KH 149 217 1.97e-15 SMART
KH 221 289 1.8e-9 SMART
KH 294 362 1.73e-11 SMART
KH 363 429 2.66e-12 SMART
KH 434 502 9.18e-16 SMART
KH 506 575 7.52e-12 SMART
KH 580 648 7.68e-18 SMART
KH 652 721 3.24e-16 SMART
KH 726 795 1.33e-12 SMART
KH 799 868 2.48e-12 SMART
KH 872 972 3.03e-16 SMART
KH 973 1039 4.56e-11 SMART
KH 1051 1122 3.67e-15 SMART
KH 1126 1195 3.37e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186164
AA Change: R460W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: R460W

DomainStartEndE-ValueType
KH 149 217 1.2e-17 SMART
KH 221 289 1.1e-11 SMART
KH 294 360 1.6e-14 SMART
KH 365 433 5.7e-18 SMART
KH 437 506 4.6e-14 SMART
KH 511 579 4.7e-20 SMART
KH 583 652 2e-18 SMART
KH 657 726 7.9e-15 SMART
KH 730 799 1.5e-14 SMART
KH 803 903 1.8e-18 SMART
KH 904 970 2.8e-13 SMART
KH 982 1053 2.2e-17 SMART
KH 1057 1126 2e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189951
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A G 4: 49,380,269 (GRCm39) S370P probably damaging Het
Adamts5 T C 16: 85,696,363 (GRCm39) R265G probably benign Het
Cd2ap T C 17: 43,156,280 (GRCm39) S86G possibly damaging Het
Cers3 A C 7: 66,435,751 (GRCm39) probably benign Het
Dnaaf2 G T 12: 69,243,376 (GRCm39) P562T probably damaging Het
Dnajc21 A C 15: 10,447,188 (GRCm39) V520G probably benign Het
Dync1h1 A G 12: 110,592,041 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,211 (GRCm39) N733D probably benign Het
Gm5499 T A 17: 87,385,928 (GRCm39) noncoding transcript Het
Gstm6 T C 3: 107,848,379 (GRCm39) Q180R probably benign Het
Ift81 T C 5: 122,749,031 (GRCm39) D40G probably damaging Het
Igsf3 T A 3: 101,334,338 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,147 (GRCm39) T158A probably benign Het
Lrrc59 C T 11: 94,529,426 (GRCm39) R167* probably null Het
Macf1 A G 4: 123,334,567 (GRCm39) C4397R probably damaging Het
Morc1 T C 16: 48,402,825 (GRCm39) S583P probably benign Het
Mucl3 A T 17: 35,947,758 (GRCm39) N490K probably damaging Het
Nipsnap2 T A 5: 129,834,205 (GRCm39) *282R probably null Het
Or2ag19 T C 7: 106,443,956 (GRCm39) L46P probably damaging Het
Or9m1b A T 2: 87,836,589 (GRCm39) C178S probably damaging Het
Parp14 T A 16: 35,676,929 (GRCm39) Q1013L probably benign Het
Pdzd8 A C 19: 59,289,961 (GRCm39) S480A probably benign Het
Piezo1 A T 8: 123,214,339 (GRCm39) S1609R probably damaging Het
Pkp4 G A 2: 59,180,971 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,327 (GRCm39) V106D probably damaging Het
Rimbp2 T C 5: 128,863,816 (GRCm39) Y724C probably benign Het
Rpgrip1l A T 8: 91,987,501 (GRCm39) L852* probably null Het
Samd9l T A 6: 3,376,259 (GRCm39) D334V probably benign Het
Sipa1l2 G A 8: 126,218,257 (GRCm39) T360M probably damaging Het
Slc30a2 A T 4: 134,070,611 (GRCm39) D5V probably damaging Het
Spata31 T C 13: 65,069,568 (GRCm39) I572T probably benign Het
Tma16 G A 8: 66,929,512 (GRCm39) L161F probably benign Het
Trappc2b A T 11: 51,576,670 (GRCm39) V76D probably damaging Het
Trim69 A T 2: 122,003,765 (GRCm39) E238V possibly damaging Het
Zfhx4 A G 3: 5,307,388 (GRCm39) T205A probably benign Het
Other mutations in Hdlbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Hdlbp APN 1 93,357,891 (GRCm39) missense probably benign 0.00
IGL01387:Hdlbp APN 1 93,341,310 (GRCm39) missense possibly damaging 0.91
IGL01443:Hdlbp APN 1 93,358,796 (GRCm39) missense probably damaging 0.99
IGL01467:Hdlbp APN 1 93,345,420 (GRCm39) splice site probably benign
IGL02223:Hdlbp APN 1 93,340,171 (GRCm39) missense probably damaging 1.00
IGL02274:Hdlbp APN 1 93,336,229 (GRCm39) splice site probably null
IGL02452:Hdlbp APN 1 93,345,233 (GRCm39) missense probably damaging 1.00
IGL03079:Hdlbp APN 1 93,341,662 (GRCm39) splice site probably benign
IGL03169:Hdlbp APN 1 93,344,309 (GRCm39) missense possibly damaging 0.92
IGL03229:Hdlbp APN 1 93,357,909 (GRCm39) missense probably benign 0.00
R0119:Hdlbp UTSW 1 93,349,059 (GRCm39) splice site probably benign
R0432:Hdlbp UTSW 1 93,353,054 (GRCm39) missense probably damaging 1.00
R0508:Hdlbp UTSW 1 93,342,533 (GRCm39) critical splice donor site probably null
R0530:Hdlbp UTSW 1 93,358,039 (GRCm39) unclassified probably benign
R1276:Hdlbp UTSW 1 93,348,823 (GRCm39) missense probably benign 0.12
R1302:Hdlbp UTSW 1 93,351,107 (GRCm39) splice site probably null
R1331:Hdlbp UTSW 1 93,348,853 (GRCm39) missense probably damaging 1.00
R1537:Hdlbp UTSW 1 93,345,096 (GRCm39) missense probably benign 0.01
R1623:Hdlbp UTSW 1 93,351,591 (GRCm39) missense probably damaging 1.00
R1695:Hdlbp UTSW 1 93,364,922 (GRCm39) missense probably damaging 1.00
R1897:Hdlbp UTSW 1 93,350,007 (GRCm39) intron probably benign
R1900:Hdlbp UTSW 1 93,349,959 (GRCm39) intron probably benign
R1984:Hdlbp UTSW 1 93,358,840 (GRCm39) missense probably damaging 0.98
R1985:Hdlbp UTSW 1 93,358,840 (GRCm39) missense probably damaging 0.98
R2066:Hdlbp UTSW 1 93,349,602 (GRCm39) intron probably benign
R2277:Hdlbp UTSW 1 93,335,900 (GRCm39) nonsense probably null
R2349:Hdlbp UTSW 1 93,349,956 (GRCm39) intron probably benign
R3434:Hdlbp UTSW 1 93,355,883 (GRCm39) missense probably benign 0.04
R3978:Hdlbp UTSW 1 93,349,073 (GRCm39) missense probably damaging 1.00
R4645:Hdlbp UTSW 1 93,349,842 (GRCm39) intron probably benign
R5196:Hdlbp UTSW 1 93,347,915 (GRCm39) missense probably damaging 1.00
R5760:Hdlbp UTSW 1 93,368,499 (GRCm39) intron probably benign
R6327:Hdlbp UTSW 1 93,357,186 (GRCm39) missense possibly damaging 0.87
R6420:Hdlbp UTSW 1 93,358,726 (GRCm39) missense probably damaging 1.00
R6428:Hdlbp UTSW 1 93,359,167 (GRCm39) missense possibly damaging 0.91
R6468:Hdlbp UTSW 1 93,345,389 (GRCm39) missense possibly damaging 0.48
R6488:Hdlbp UTSW 1 93,355,946 (GRCm39) missense probably damaging 1.00
R6592:Hdlbp UTSW 1 93,340,083 (GRCm39) critical splice donor site probably null
R6920:Hdlbp UTSW 1 93,340,083 (GRCm39) critical splice donor site probably null
R7156:Hdlbp UTSW 1 93,341,637 (GRCm39) missense probably damaging 1.00
R7391:Hdlbp UTSW 1 93,358,783 (GRCm39) missense possibly damaging 0.93
R7457:Hdlbp UTSW 1 93,355,944 (GRCm39) missense probably benign 0.04
R7498:Hdlbp UTSW 1 93,341,337 (GRCm39) missense probably benign 0.00
R7554:Hdlbp UTSW 1 93,365,031 (GRCm39) missense probably damaging 0.96
R7593:Hdlbp UTSW 1 93,358,005 (GRCm39) missense probably benign 0.01
R7672:Hdlbp UTSW 1 93,364,821 (GRCm39) missense possibly damaging 0.90
R7801:Hdlbp UTSW 1 93,358,029 (GRCm39) splice site probably null
R7904:Hdlbp UTSW 1 93,351,092 (GRCm39) missense probably damaging 1.00
R8062:Hdlbp UTSW 1 93,366,064 (GRCm39) missense probably benign 0.10
R8113:Hdlbp UTSW 1 93,344,917 (GRCm39) missense probably damaging 0.98
R8557:Hdlbp UTSW 1 93,341,219 (GRCm39) missense probably damaging 0.96
R8690:Hdlbp UTSW 1 93,341,640 (GRCm39) missense probably damaging 0.96
R8850:Hdlbp UTSW 1 93,359,053 (GRCm39) missense probably damaging 0.97
R9288:Hdlbp UTSW 1 93,336,773 (GRCm39) missense probably benign 0.01
R9615:Hdlbp UTSW 1 93,358,014 (GRCm39) missense probably benign 0.06
RF020:Hdlbp UTSW 1 93,368,456 (GRCm39) missense probably benign
Z1088:Hdlbp UTSW 1 93,359,076 (GRCm39) start gained probably benign
Posted On 2013-10-07