Incidental Mutation 'IGL02274:Hdlbp'
ID 287295
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 # IGL02274
Quality Score
Status
Chromosome 1
Chromosomal Location 93333662-93406537 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 93336229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164] [ENSMUST00000186641]
AlphaFold Q8VDJ3
Predicted Effect probably null
Transcript: ENSMUST00000042498
SMART Domains Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088

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 null
Transcript: ENSMUST00000170883
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088

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 null
Transcript: ENSMUST00000186164
SMART Domains Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088

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 probably benign
Transcript: ENSMUST00000186641
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190340
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,997,205 (GRCm39) D48G probably damaging Het
Asnsd1 T C 1: 53,386,734 (GRCm39) I298V probably benign Het
Cacna2d3 G T 14: 28,678,827 (GRCm39) probably null Het
Cbs T C 17: 31,844,922 (GRCm39) probably null Het
Ccm2 C A 11: 6,540,808 (GRCm39) T216K probably damaging Het
Galc C T 12: 98,220,473 (GRCm39) W131* probably null Het
Gemin5 T C 11: 58,047,621 (GRCm39) R318G possibly damaging Het
Gsta3 T G 1: 21,320,012 (GRCm39) V6G possibly damaging Het
Igkv13-55-1 T G 6: 69,577,132 (GRCm39) noncoding transcript Het
Il17rd A G 14: 26,821,867 (GRCm39) Y387C probably damaging Het
Katnip A G 7: 125,369,742 (GRCm39) probably null Het
Kmt2e C T 5: 23,705,758 (GRCm39) T1344I probably benign Het
L3mbtl4 A C 17: 69,071,579 (GRCm39) H502P probably benign Het
Lrig1 A T 6: 94,640,919 (GRCm39) N95K possibly damaging Het
Neurl2 G T 2: 164,675,012 (GRCm39) R117S probably damaging Het
Nos1 G A 5: 118,035,845 (GRCm39) A449T probably damaging Het
Noxa1 A T 2: 24,975,767 (GRCm39) V435E probably benign Het
Parp9 C T 16: 35,768,317 (GRCm39) R166W probably damaging Het
Pdzd2 A G 15: 12,445,735 (GRCm39) I158T probably damaging Het
Pip5k1c T C 10: 81,142,218 (GRCm39) Y143H probably damaging Het
Qrfpr A G 3: 36,276,285 (GRCm39) V35A probably damaging Het
Rab3gap1 T G 1: 127,866,817 (GRCm39) S881A probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scai G A 2: 38,992,329 (GRCm39) probably benign Het
Skic2 T A 17: 35,064,839 (GRCm39) I418F probably damaging Het
Tenm4 A C 7: 96,503,941 (GRCm39) H1300P probably damaging Het
Tmppe A G 9: 114,234,499 (GRCm39) H266R probably benign Het
Wdr11 A T 7: 129,232,896 (GRCm39) probably null Het
Xirp2 A G 2: 67,338,995 (GRCm39) E412G probably benign Het
Zan A G 5: 137,419,429 (GRCm39) V2910A unknown Het
Other mutations in Hdlbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Hdlbp APN 1 93,357,891 (GRCm39) missense probably benign 0.00
IGL01321:Hdlbp APN 1 93,351,524 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16