Incidental Mutation 'R7156:Hdlbp'
ID 557272
Institutional Source Beutler Lab
Gene Symbol Hdlbp
Ensembl Gene ENSMUSG00000034088
Gene Name high density lipoprotein (HDL) binding protein
Synonyms 1110005P14Rik, D1Ertd101e
MMRRC Submission 045257-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R7156 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93333662-93406537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93341637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 974 (T974I)
Ref Sequence ENSEMBL: ENSMUSP00000043047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042498] [ENSMUST00000170883] [ENSMUST00000186164]
AlphaFold Q8VDJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000042498
AA Change: T974I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043047
Gene: ENSMUSG00000034088
AA Change: T974I

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: T974I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127903
Gene: ENSMUSG00000034088
AA Change: T974I

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: T905I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139671
Gene: ENSMUSG00000034088
AA Change: T905I

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,282 (GRCm39) I317T possibly damaging Het
Acsl5 G A 19: 55,257,260 (GRCm39) probably null Het
Ahrr G A 13: 74,378,035 (GRCm39) T136I probably damaging Het
AI597479 G A 1: 43,150,261 (GRCm39) D124N probably damaging Het
Arap2 G T 5: 62,761,914 (GRCm39) A1604D probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cadps2 T C 6: 23,688,955 (GRCm39) N118S probably benign Het
Caskin1 T A 17: 24,719,657 (GRCm39) probably null Het
Cc2d1a C T 8: 84,862,389 (GRCm39) V684M possibly damaging Het
Ccdc91 T C 6: 147,435,676 (GRCm39) S87P possibly damaging Het
Cdr2l A G 11: 115,281,792 (GRCm39) Q99R probably benign Het
Celsr3 T C 9: 108,715,203 (GRCm39) L2066P possibly damaging Het
Cep95 A C 11: 106,700,050 (GRCm39) L313F possibly damaging Het
Chst10 G A 1: 38,913,088 (GRCm39) T63M probably damaging Het
Clrn2 G A 5: 45,611,258 (GRCm39) G36R probably damaging Het
Cnn2 T G 10: 79,830,349 (GRCm39) Y273* probably null Het
Crtap T C 9: 114,207,164 (GRCm39) T365A probably benign Het
D630045J12Rik T C 6: 38,171,964 (GRCm39) T735A possibly damaging Het
Disp2 C T 2: 118,622,292 (GRCm39) A1008V probably damaging Het
Dmrt3 A G 19: 25,588,317 (GRCm39) D52G probably damaging Het
Dmrta1 T G 4: 89,576,700 (GRCm39) L52R probably damaging Het
Dmrta2 A G 4: 109,839,185 (GRCm39) T311A probably damaging Het
Dnm1 T A 2: 32,230,479 (GRCm39) N112Y probably damaging Het
Dysf T C 6: 84,064,858 (GRCm39) probably null Het
Ep400 A G 5: 110,833,229 (GRCm39) F2034L unknown Het
F12 G A 13: 55,566,310 (GRCm39) A494V probably damaging Het
Fbp2 A T 13: 62,989,675 (GRCm39) F210L probably benign Het
Fbxo31 T A 8: 122,281,060 (GRCm39) Q362L possibly damaging Het
Fkbp4 C T 6: 128,412,787 (GRCm39) A95T probably benign Het
Frmd6 T G 12: 70,923,983 (GRCm39) C80W probably damaging Het
Fsip2 A G 2: 82,813,085 (GRCm39) I3135V probably benign Het
Garre1 G T 7: 33,945,133 (GRCm39) N582K possibly damaging Het
Guca2b T A 4: 119,514,887 (GRCm39) E34V probably damaging Het
Hsdl2 T A 4: 59,617,653 (GRCm39) M460K possibly damaging Het
Ift172 C T 5: 31,429,419 (GRCm39) V581M probably damaging Het
Ift74 A G 4: 94,549,189 (GRCm39) K313R possibly damaging Het
Ints4 T A 7: 97,184,493 (GRCm39) probably null Het
Iqca1l C T 5: 24,757,648 (GRCm39) E150K probably benign Het
Kif21b A C 1: 136,075,562 (GRCm39) T230P probably damaging Het
Kit A T 5: 75,776,034 (GRCm39) Y272F probably benign Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lce1j T A 3: 92,696,491 (GRCm39) S96C unknown Het
Marveld3 T A 8: 110,674,820 (GRCm39) D332V probably damaging Het
Matr3 G T 18: 35,705,974 (GRCm39) V300F probably damaging Het
Mical1 T A 10: 41,361,253 (GRCm39) probably null Het
Mslnl T A 17: 25,962,184 (GRCm39) V194E probably benign Het
Mug1 C A 6: 121,857,864 (GRCm39) T1119K probably damaging Het
Mug1 C T 6: 121,861,302 (GRCm39) P1308S probably damaging Het
Neb C A 2: 52,195,295 (GRCm39) probably null Het
Neo1 T A 9: 58,810,206 (GRCm39) T1082S probably damaging Het
Nkx6-2 C T 7: 139,162,045 (GRCm39) probably null Het
Or10g6 T C 9: 39,934,526 (GRCm39) I279T probably benign Het
Or8k27 T A 2: 86,275,652 (GRCm39) I225L probably damaging Het
Orc1 A T 4: 108,452,656 (GRCm39) E177V probably benign Het
Parp1 G A 1: 180,426,629 (GRCm39) V924I possibly damaging Het
Pax2 A T 19: 44,777,298 (GRCm39) I165F probably benign Het
Pnma2 C T 14: 67,153,980 (GRCm39) P135S probably benign Het
Ranbp17 A G 11: 33,247,420 (GRCm39) I718T probably damaging Het
Rbm25 T A 12: 83,710,965 (GRCm39) D359E unknown Het
Rgs3 T C 4: 62,535,363 (GRCm39) L194P probably damaging Het
Serpinb6b A G 13: 33,155,598 (GRCm39) I104V probably benign Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Smpd1 C T 7: 105,203,693 (GRCm39) probably benign Het
Snx17 T A 5: 31,354,692 (GRCm39) M318K probably damaging Het
Spata31e5 A T 1: 28,815,848 (GRCm39) M728K possibly damaging Het
Stard10 G A 7: 100,995,258 (GRCm39) D337N probably damaging Het
Tex14 A G 11: 87,375,545 (GRCm39) T103A probably damaging Het
Tle1 A G 4: 72,088,953 (GRCm39) S97P probably benign Het
Tnfrsf8 T A 4: 145,041,654 (GRCm39) M1L unknown Het
Traf3ip2 T C 10: 39,502,173 (GRCm39) L107P possibly damaging Het
Trpc7 A T 13: 56,937,579 (GRCm39) S626T possibly damaging Het
Ubl7 T A 9: 57,837,039 (GRCm39) I350N probably damaging Het
Ubr3 T A 2: 69,851,967 (GRCm39) I1878N probably damaging Het
Usp24 G T 4: 106,245,116 (GRCm39) probably null Het
Vcan A T 13: 89,837,229 (GRCm39) S2772T possibly damaging Het
Vmn2r79 T C 7: 86,686,851 (GRCm39) V744A probably damaging Het
Wbp2nl T C 15: 82,189,903 (GRCm39) S32P probably damaging Het
Wwc1 A G 11: 35,788,201 (GRCm39) probably null Het
Zfp629 C T 7: 127,211,463 (GRCm39) W115* probably null 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
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
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'- GCAGAACCAATGTGGGCTG -3'
(R):5'- CCTGCATGACCTCAGACTGG -3'

Sequencing Primer
(F):5'- GCTGAAGAAGGACACAGACTC -3'
(R):5'- ATGACCTCAGACTGGGCTCC -3'
Posted On 2019-06-26