Incidental Mutation 'R1623:Hdlbp'
ID 174744
Institutional Source Beutler Lab
Gene Symbol Hdlbp
Ensembl Gene ENSMUSG00000034088
Gene Name high density lipoprotein (HDL) binding protein
Synonyms 1110005P14Rik, D1Ertd101e
MMRRC Submission 039660-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R1623 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93333662-93406537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93351591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 437 (N437K)
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: N506K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: N506K

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: N506K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: N506K

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: N437K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: N437K

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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 94.9%
  • 20x: 87.6%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A T 2: 22,984,356 (GRCm39) D294V probably damaging Het
Actn2 A T 13: 12,355,320 (GRCm39) I21N probably benign Het
Adamts2 C A 11: 50,558,942 (GRCm39) P219H possibly damaging Het
Atg16l2 A G 7: 100,939,113 (GRCm39) F584L probably benign Het
Ccdc81 C T 7: 89,535,390 (GRCm39) R282Q probably benign Het
Ccn4 G T 15: 66,763,448 (GRCm39) V12L possibly damaging Het
Cd200r3 G A 16: 44,771,811 (GRCm39) C25Y possibly damaging Het
Cdkl4 C T 17: 80,863,731 (GRCm39) probably null Het
Chrne T C 11: 70,509,254 (GRCm39) E109G possibly damaging Het
Clmp A G 9: 40,693,856 (GRCm39) T358A probably benign Het
Cmtr1 G T 17: 29,906,021 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,699 (GRCm39) E389G probably damaging Het
Ctc1 C T 11: 68,911,968 (GRCm39) T49M probably damaging Het
Cyth3 T A 5: 143,687,127 (GRCm39) M120K probably damaging Het
D430041D05Rik T A 2: 103,983,308 (GRCm39) E1996V probably damaging Het
Dnah9 T C 11: 65,928,463 (GRCm39) M2069V probably damaging Het
Dsg1c T C 18: 20,408,234 (GRCm39) Y428H probably damaging Het
Exosc8 T A 3: 54,641,752 (GRCm39) T7S probably damaging Het
F5 A G 1: 164,023,191 (GRCm39) Y1583C probably damaging Het
Fam178b A G 1: 36,683,405 (GRCm39) I105T probably damaging Het
Fam181a T A 12: 103,282,591 (GRCm39) Y165* probably null Het
Fbn2 G T 18: 58,181,620 (GRCm39) N1880K possibly damaging Het
Gbgt1 A T 2: 28,394,988 (GRCm39) M209L probably benign Het
Gkn2 C A 6: 87,355,152 (GRCm39) Y120* probably null Het
Gm14295 T A 2: 176,499,157 (GRCm39) D1E probably damaging Het
Gpr141 A T 13: 19,936,082 (GRCm39) probably null Het
Gramd2b C A 18: 56,565,423 (GRCm39) P26Q probably benign Het
Greb1 A G 12: 16,724,771 (GRCm39) I1801T probably damaging Het
Gstm3 T A 3: 107,875,151 (GRCm39) I64F possibly damaging Het
Gtse1 A G 15: 85,751,779 (GRCm39) Y324C probably benign Het
Hal C G 10: 93,352,159 (GRCm39) T650R probably benign Het
Hdac7 G A 15: 97,706,285 (GRCm39) Q293* probably null Het
Hif1an A G 19: 44,557,862 (GRCm39) D248G probably damaging Het
Hivep3 T C 4: 119,952,901 (GRCm39) S406P possibly damaging Het
Hmcn2 A T 2: 31,348,051 (GRCm39) D4899V possibly damaging Het
Ikzf3 C T 11: 98,381,157 (GRCm39) probably null Het
Inka2 G A 3: 105,624,136 (GRCm39) G151D probably damaging Het
Itgb4 C A 11: 115,882,142 (GRCm39) Y819* probably null Het
Itpripl1 T C 2: 126,983,555 (GRCm39) D189G possibly damaging Het
Kmt2e A G 5: 23,687,500 (GRCm39) Y450C probably damaging Het
Mc4r A G 18: 66,993,068 (GRCm39) L15P probably benign Het
Mical1 T G 10: 41,357,389 (GRCm39) probably null Het
Mical3 C T 6: 121,001,768 (GRCm39) V575M probably damaging Het
Mki67 A T 7: 135,310,547 (GRCm39) probably null Het
Mocs2 G A 13: 114,961,158 (GRCm39) E52K probably benign Het
Myo7b T C 18: 32,133,104 (GRCm39) N415S probably damaging Het
Notch1 G A 2: 26,368,624 (GRCm39) T555I possibly damaging Het
Notch3 T C 17: 32,358,165 (GRCm39) D1686G probably benign Het
Oit3 A G 10: 59,264,061 (GRCm39) F358L probably damaging Het
Or10x1 A C 1: 174,196,515 (GRCm39) I11L probably benign Het
Or6k4 A T 1: 173,964,883 (GRCm39) D191V probably damaging Het
Orai1 T A 5: 123,167,265 (GRCm39) I146N probably damaging Het
Pck1 A G 2: 172,996,511 (GRCm39) I142V probably benign Het
Pdap1 C T 5: 145,069,739 (GRCm39) V89M possibly damaging Het
Phf11a T C 14: 59,525,000 (GRCm39) D68G possibly damaging Het
Pilrb2 T C 5: 137,869,510 (GRCm39) N30S probably damaging Het
Pkd1 G A 17: 24,797,243 (GRCm39) V2551I probably damaging Het
Pnpla7 T C 2: 24,942,611 (GRCm39) V132A probably damaging Het
Prr35 G A 17: 26,166,508 (GRCm39) P343L probably benign Het
Rad18 C T 6: 112,605,480 (GRCm39) S398N probably damaging Het
Rdh16f1 C A 10: 127,626,722 (GRCm39) N258K probably benign Het
Riox2 A G 16: 59,303,405 (GRCm39) H240R probably damaging Het
Ruvbl1 C T 6: 88,462,752 (GRCm39) A292V probably damaging Het
Ryr1 C T 7: 28,794,915 (GRCm39) G1151S probably damaging Het
Serpinb9b T C 13: 33,213,548 (GRCm39) I35T possibly damaging Het
Slc1a1 T A 19: 28,882,122 (GRCm39) M328K probably benign Het
Slc7a13 A T 4: 19,824,031 (GRCm39) T267S possibly damaging Het
Speer3 G T 5: 13,846,335 (GRCm39) M218I probably benign Het
Sptan1 A G 2: 29,876,432 (GRCm39) I271V probably damaging Het
Swap70 A G 7: 109,863,255 (GRCm39) T195A probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tonsl A G 15: 76,522,709 (GRCm39) C181R probably damaging Het
Trdn A G 10: 33,134,098 (GRCm39) K333R possibly damaging Het
Trpc4 T A 3: 54,206,600 (GRCm39) M600K probably damaging Het
Ubr3 C T 2: 69,808,067 (GRCm39) Q1183* probably null Het
Ubxn4 T A 1: 128,200,588 (GRCm39) L360I possibly damaging Het
Ugt2b1 T A 5: 87,074,267 (GRCm39) T31S probably benign Het
Uspl1 T C 5: 149,152,009 (GRCm39) S1056P probably damaging Het
Vmn2r60 A T 7: 41,785,279 (GRCm39) K164* probably null Het
Vwce T A 19: 10,624,108 (GRCm39) L333* probably null Het
Wdr95 T A 5: 149,497,581 (GRCm39) L253Q probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp142 T C 1: 74,610,934 (GRCm39) T851A possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAGAAGTTGTTTCCAAAGCATGATCC -3'
(R):5'- AATGACTGAAGAGCCCTGCAATCC -3'

Sequencing Primer
(F):5'- ATCCATATACTAGCTGTGGTATGCG -3'
(R):5'- CTGTACTATGTTCAGGAAAATAGCAC -3'
Posted On 2014-04-24