Incidental Mutation 'IGL02223:Hdlbp'
ID285226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdlbp
Ensembl Gene ENSMUSG00000034088
Gene Namehigh density lipoprotein (HDL) binding protein
Synonyms1110005P14Rik, D1Ertd101e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.763) question?
Stock #IGL02223
Quality Score
Status
Chromosome1
Chromosomal Location93405940-93478815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93412449 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 999 (I999V)
Ref Sequence ENSEMBL: ENSMUSP00000139671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164]
Predicted Effect probably damaging
Transcript: ENSMUST00000042498
AA Change: I1068V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: I1068V

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: ENSMUST00000170883
AA Change: I1068V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: I1068V

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: I999V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: I999V

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,287,935 W1148* probably null Het
Adam17 A G 12: 21,361,705 S62P possibly damaging Het
Akap8 T C 17: 32,316,647 Y131C probably damaging Het
Ccdc151 G A 9: 21,993,612 R293C probably damaging Het
Ccdc169 A G 3: 55,142,300 N48S probably benign Het
Ccdc80 A G 16: 45,095,603 T241A probably damaging Het
Cct7 G T 6: 85,462,041 M112I probably benign Het
Cftr G A 6: 18,221,482 A198T probably damaging Het
Crk T C 11: 75,703,379 V264A probably damaging Het
Ddx58 T C 4: 40,209,993 N692D possibly damaging Het
Dhx34 T C 7: 16,198,659 T1071A probably benign Het
Dlst A G 12: 85,130,918 I362V probably benign Het
Fat2 T C 11: 55,273,129 E3100G probably benign Het
Fbxo11 A G 17: 88,009,286 V323A probably benign Het
Foxe3 C A 4: 114,925,709 R102L probably damaging Het
Gale T C 4: 135,966,506 F162S probably damaging Het
Gipc2 G A 3: 152,128,050 P198L probably damaging Het
Gm5258 A G 1: 86,323,396 noncoding transcript Het
Gpatch11 A G 17: 78,845,179 T259A probably benign Het
H2-M10.3 T C 17: 36,368,080 N32S possibly damaging Het
Ibtk A G 9: 85,710,366 probably benign Het
Ift46 A G 9: 44,786,312 S165G probably damaging Het
Igsf1 A G X: 49,785,020 S389P probably damaging Het
Lrrd1 A C 5: 3,850,211 N172T probably benign Het
Mamdc2 G A 19: 23,359,143 probably benign Het
Matn2 A G 15: 34,423,718 N574S probably benign Het
Med1 T C 11: 98,157,876 D683G probably damaging Het
Mon1a A G 9: 107,901,285 E236G probably damaging Het
Moxd2 T A 6: 40,885,033 I202F probably damaging Het
Nif3l1 T A 1: 58,448,043 Y129* probably null Het
Nlrp5 T C 7: 23,430,022 probably benign Het
Olfr177 C T 16: 58,872,694 G152E probably damaging Het
Pcx T C 19: 4,601,978 Y84H probably damaging Het
Pom121l2 T C 13: 21,982,095 S179P probably benign Het
Rexo4 C A 2: 26,955,499 C369F probably damaging Het
Scmh1 C A 4: 120,515,219 H406Q probably benign Het
Slc12a8 A G 16: 33,624,690 D372G probably damaging Het
Snip1 T C 4: 125,072,752 F325S possibly damaging Het
Spr-ps1 C T 6: 85,155,199 noncoding transcript Het
Stk36 A G 1: 74,623,337 Y538C possibly damaging Het
Svil A G 18: 5,105,879 probably benign Het
Syne2 A G 12: 76,108,305 T6787A probably benign Het
Tbcel T G 9: 42,451,718 M10L probably benign Het
Tesk2 T A 4: 116,741,825 Y43* probably null Het
Tjp1 C T 7: 65,322,601 R605Q probably damaging Het
Tmem65 A G 15: 58,790,151 probably benign Het
Tnnt2 A G 1: 135,842,015 probably benign Het
Trmt44 T C 5: 35,574,645 E134G probably benign Het
Trpv2 T C 11: 62,581,255 L91P probably benign Het
Ttn G A 2: 76,977,119 T90I probably damaging Het
Yy1 A G 12: 108,793,540 E43G unknown Het
Other mutations in Hdlbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Hdlbp APN 1 93430169 missense probably benign 0.00
IGL01321:Hdlbp APN 1 93423802 missense probably damaging 1.00
IGL01387:Hdlbp APN 1 93413588 missense possibly damaging 0.91
IGL01443:Hdlbp APN 1 93431074 missense probably damaging 0.99
IGL01467:Hdlbp APN 1 93417698 splice site probably benign
IGL02274:Hdlbp APN 1 93408507 splice site probably null
IGL02452:Hdlbp APN 1 93417511 missense probably damaging 1.00
IGL03079:Hdlbp APN 1 93413940 splice site probably benign
IGL03169:Hdlbp APN 1 93416587 missense possibly damaging 0.92
IGL03229:Hdlbp APN 1 93430187 missense probably benign 0.00
R0119:Hdlbp UTSW 1 93421337 splice site probably benign
R0432:Hdlbp UTSW 1 93425332 missense probably damaging 1.00
R0508:Hdlbp UTSW 1 93414811 critical splice donor site probably null
R0530:Hdlbp UTSW 1 93430317 unclassified probably benign
R1276:Hdlbp UTSW 1 93421101 missense probably benign 0.12
R1302:Hdlbp UTSW 1 93423385 splice site probably null
R1331:Hdlbp UTSW 1 93421131 missense probably damaging 1.00
R1537:Hdlbp UTSW 1 93417374 missense probably benign 0.01
R1623:Hdlbp UTSW 1 93423869 missense probably damaging 1.00
R1695:Hdlbp UTSW 1 93437200 missense probably damaging 1.00
R1897:Hdlbp UTSW 1 93422285 intron probably benign
R1900:Hdlbp UTSW 1 93422237 intron probably benign
R1984:Hdlbp UTSW 1 93431118 missense probably damaging 0.98
R1985:Hdlbp UTSW 1 93431118 missense probably damaging 0.98
R2066:Hdlbp UTSW 1 93421880 intron probably benign
R2277:Hdlbp UTSW 1 93408178 nonsense probably null
R2349:Hdlbp UTSW 1 93422234 intron probably benign
R3434:Hdlbp UTSW 1 93428161 missense probably benign 0.04
R3978:Hdlbp UTSW 1 93421351 missense probably damaging 1.00
R4645:Hdlbp UTSW 1 93422120 intron probably benign
R5196:Hdlbp UTSW 1 93420193 missense probably damaging 1.00
R5760:Hdlbp UTSW 1 93440777 intron probably benign
R6327:Hdlbp UTSW 1 93429464 missense possibly damaging 0.87
R6420:Hdlbp UTSW 1 93431004 missense probably damaging 1.00
R6428:Hdlbp UTSW 1 93431445 missense possibly damaging 0.91
R6468:Hdlbp UTSW 1 93417667 missense possibly damaging 0.48
R6488:Hdlbp UTSW 1 93428224 missense probably damaging 1.00
R6592:Hdlbp UTSW 1 93412361 critical splice donor site probably null
R6920:Hdlbp UTSW 1 93412361 critical splice donor site probably null
Z1088:Hdlbp UTSW 1 93431354 start gained probably benign
Posted On2015-04-16