Incidental Mutation 'R0009:Hp1bp3'
ID 40462
Institutional Source Beutler Lab
Gene Symbol Hp1bp3
Ensembl Gene ENSMUSG00000028759
Gene Name heterochromatin protein 1, binding protein 3
Synonyms Hp1bp74
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R0009 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 137943607-137971994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137948994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 19 (I19K)
Ref Sequence ENSEMBL: ENSMUSP00000132614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030541] [ENSMUST00000097836] [ENSMUST00000105825] [ENSMUST00000105826] [ENSMUST00000105827] [ENSMUST00000124305] [ENSMUST00000130071] [ENSMUST00000137865] [ENSMUST00000165861] [ENSMUST00000137851]
AlphaFold Q3TEA8
Predicted Effect probably benign
Transcript: ENSMUST00000030541
AA Change: I19K

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: I19K

DomainStartEndE-ValueType
low complexity region 96 133 N/A INTRINSIC
H15 157 224 2.82e-18 SMART
H15 253 320 7.29e-12 SMART
H15 335 403 1.78e-15 SMART
low complexity region 427 451 N/A INTRINSIC
low complexity region 491 512 N/A INTRINSIC
low complexity region 540 554 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097836
SMART Domains Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759

DomainStartEndE-ValueType
low complexity region 58 95 N/A INTRINSIC
H15 119 186 2.82e-18 SMART
H15 215 282 7.29e-12 SMART
H15 297 365 1.78e-15 SMART
low complexity region 389 413 N/A INTRINSIC
low complexity region 453 474 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105825
SMART Domains Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759

DomainStartEndE-ValueType
low complexity region 58 95 N/A INTRINSIC
H15 119 186 1.3e-17 SMART
H15 215 282 7.29e-12 SMART
H15 297 365 1.78e-15 SMART
low complexity region 389 413 N/A INTRINSIC
low complexity region 453 474 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105826
AA Change: I19K

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: I19K

DomainStartEndE-ValueType
low complexity region 96 133 N/A INTRINSIC
H15 157 224 1.3e-17 SMART
H15 253 320 7.29e-12 SMART
H15 335 403 1.78e-15 SMART
low complexity region 427 451 N/A INTRINSIC
low complexity region 491 512 N/A INTRINSIC
low complexity region 540 554 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105827
AA Change: I19K

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: I19K

DomainStartEndE-ValueType
low complexity region 96 133 N/A INTRINSIC
H15 157 224 1.3e-17 SMART
H15 253 320 7.29e-12 SMART
H15 335 403 1.78e-15 SMART
low complexity region 427 451 N/A INTRINSIC
low complexity region 491 512 N/A INTRINSIC
low complexity region 540 554 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124305
SMART Domains Protein: ENSMUSP00000120587
Gene: ENSMUSG00000028759

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
low complexity region 45 82 N/A INTRINSIC
H15 106 165 2.94e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130071
AA Change: I19K

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000137865
AA Change: I19K

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117216
Gene: ENSMUSG00000028759
AA Change: I19K

DomainStartEndE-ValueType
low complexity region 59 74 N/A INTRINSIC
low complexity region 83 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165861
AA Change: I19K

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: I19K

DomainStartEndE-ValueType
low complexity region 96 133 N/A INTRINSIC
H15 157 224 2.82e-18 SMART
H15 253 320 7.29e-12 SMART
H15 335 403 1.78e-15 SMART
low complexity region 427 451 N/A INTRINSIC
low complexity region 491 512 N/A INTRINSIC
low complexity region 540 554 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154581
Predicted Effect probably benign
Transcript: ENSMUST00000137851
SMART Domains Protein: ENSMUSP00000118913
Gene: ENSMUSG00000028759

DomainStartEndE-ValueType
low complexity region 58 95 N/A INTRINSIC
H15 119 186 1.3e-17 SMART
Meta Mutation Damage Score 0.3256 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,791,482 (GRCm39) probably benign Het
Abcg4 T G 9: 44,188,946 (GRCm39) probably benign Het
Afm C A 5: 90,693,243 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aplnr T A 2: 84,967,620 (GRCm39) probably null Het
Arih2 T A 9: 108,488,926 (GRCm39) H264L probably damaging Het
Atp1a1 A T 3: 101,487,151 (GRCm39) I886N possibly damaging Het
Bmf A T 2: 118,380,103 (GRCm39) V14E probably damaging Het
Ccdc116 T C 16: 16,961,903 (GRCm39) E15G probably damaging Het
Ccdc175 T C 12: 72,182,739 (GRCm39) N427D possibly damaging Het
Cfap53 A G 18: 74,432,247 (GRCm39) H45R probably benign Het
Chd3 A G 11: 69,240,732 (GRCm39) L1569P probably damaging Het
Cntn2 G A 1: 132,443,918 (GRCm39) Q457* probably null Het
Coro1a A T 7: 126,300,585 (GRCm39) probably benign Het
Cracr2b T A 7: 141,043,672 (GRCm39) L91Q probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dip2b T A 15: 100,067,193 (GRCm39) L565Q probably damaging Het
Dip2c T A 13: 9,671,939 (GRCm39) C1004S probably damaging Het
Dnah11 A T 12: 118,009,257 (GRCm39) I2135N possibly damaging Het
Dnah14 A G 1: 181,596,972 (GRCm39) probably benign Het
Dnase1 T C 16: 3,856,810 (GRCm39) V147A probably damaging Het
Dusp8 T C 7: 141,635,791 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,534,636 (GRCm39) Y1828H probably damaging Het
Flvcr1 A G 1: 190,740,388 (GRCm39) V544A probably benign Het
Fsd1l T C 4: 53,687,209 (GRCm39) V311A probably benign Het
Glud1 G A 14: 34,056,225 (GRCm39) G300S probably benign Het
Gm4847 C T 1: 166,458,055 (GRCm39) V433I probably benign Het
Gstm3 T G 3: 107,875,156 (GRCm39) Y62S probably damaging Het
Gtse1 C T 15: 85,746,636 (GRCm39) P151S probably benign Het
Herc2 T C 7: 55,857,560 (GRCm39) S4048P probably benign Het
Htr7 C A 19: 36,018,940 (GRCm39) probably benign Het
Il1a C T 2: 129,150,994 (GRCm39) D10N probably damaging Het
Il22ra2 A T 10: 19,500,206 (GRCm39) N39I probably damaging Het
Kcnn4 T C 7: 24,078,680 (GRCm39) C267R possibly damaging Het
Larp1 A G 11: 57,946,299 (GRCm39) K879R possibly damaging Het
Lcn5 T A 2: 25,551,417 (GRCm39) probably benign Het
Lep T A 6: 29,068,971 (GRCm39) C7* probably null Het
Magi2 A T 5: 20,816,053 (GRCm39) Y747F probably benign Het
Mast4 T C 13: 102,878,566 (GRCm39) T1223A probably damaging Het
Mcc C T 18: 44,579,000 (GRCm39) E803K probably damaging Het
Mtmr4 T C 11: 87,502,334 (GRCm39) I796T probably benign Het
Myef2 A T 2: 124,950,898 (GRCm39) D312E probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo19 T A 11: 84,778,995 (GRCm39) probably null Het
Naa15 T G 3: 51,377,640 (GRCm39) H763Q probably damaging Het
Pde5a C T 3: 122,618,551 (GRCm39) probably benign Het
Plpp2 C T 10: 79,363,078 (GRCm39) R184H probably benign Het
Rab19 T G 6: 39,366,621 (GRCm39) L179V probably damaging Het
Rims2 T A 15: 39,398,362 (GRCm39) M1087K probably damaging Het
Riox2 C A 16: 59,309,730 (GRCm39) D361E probably benign Het
Sh3rf1 T A 8: 61,679,327 (GRCm39) V123E probably damaging Het
Slc35e1 A T 8: 73,238,553 (GRCm39) N318K probably damaging Het
Slc9a2 A T 1: 40,802,762 (GRCm39) E604V probably benign Het
Srp72 T C 5: 77,135,732 (GRCm39) S221P probably damaging Het
Tbx19 A T 1: 164,988,089 (GRCm39) S15T possibly damaging Het
Tcea2 A G 2: 181,327,610 (GRCm39) T112A probably benign Het
Tesk1 T A 4: 43,445,368 (GRCm39) D230E probably damaging Het
Tm4sf5 C T 11: 70,401,538 (GRCm39) A179V probably damaging Het
Tnr G T 1: 159,679,986 (GRCm39) G320V probably damaging Het
Trappc11 A T 8: 47,956,355 (GRCm39) C874S possibly damaging Het
Trpm3 T A 19: 22,891,810 (GRCm39) Y885N probably damaging Het
Unc5a T A 13: 55,150,692 (GRCm39) C505S probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Xpo5 T C 17: 46,515,712 (GRCm39) probably benign Het
Zfp637 C A 6: 117,822,629 (GRCm39) H252Q probably damaging Het
Zfp646 T A 7: 127,479,903 (GRCm39) D693E probably damaging Het
Other mutations in Hp1bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Hp1bp3 APN 4 137,967,940 (GRCm39) missense possibly damaging 0.85
IGL02407:Hp1bp3 APN 4 137,967,983 (GRCm39) missense probably damaging 1.00
IGL03036:Hp1bp3 APN 4 137,956,043 (GRCm39) missense probably damaging 1.00
Supermicro UTSW 4 137,953,208 (GRCm39) missense probably damaging 1.00
R0009:Hp1bp3 UTSW 4 137,948,994 (GRCm39) missense probably benign 0.45
R0128:Hp1bp3 UTSW 4 137,964,520 (GRCm39) missense probably damaging 1.00
R0130:Hp1bp3 UTSW 4 137,964,520 (GRCm39) missense probably damaging 1.00
R0131:Hp1bp3 UTSW 4 137,964,520 (GRCm39) missense probably damaging 1.00
R0131:Hp1bp3 UTSW 4 137,964,520 (GRCm39) missense probably damaging 1.00
R0132:Hp1bp3 UTSW 4 137,964,520 (GRCm39) missense probably damaging 1.00
R0344:Hp1bp3 UTSW 4 137,964,520 (GRCm39) missense probably damaging 1.00
R0522:Hp1bp3 UTSW 4 137,949,472 (GRCm39) missense possibly damaging 0.77
R0652:Hp1bp3 UTSW 4 137,956,080 (GRCm39) missense possibly damaging 0.75
R1240:Hp1bp3 UTSW 4 137,957,009 (GRCm39) missense probably damaging 1.00
R1793:Hp1bp3 UTSW 4 137,957,820 (GRCm39) missense probably damaging 1.00
R1871:Hp1bp3 UTSW 4 137,949,497 (GRCm39) missense probably damaging 1.00
R2018:Hp1bp3 UTSW 4 137,948,943 (GRCm39) missense probably damaging 1.00
R2060:Hp1bp3 UTSW 4 137,967,983 (GRCm39) missense probably damaging 1.00
R2255:Hp1bp3 UTSW 4 137,953,209 (GRCm39) missense probably damaging 0.98
R3721:Hp1bp3 UTSW 4 137,966,919 (GRCm39) missense probably damaging 1.00
R3930:Hp1bp3 UTSW 4 137,949,018 (GRCm39) missense probably benign 0.29
R5042:Hp1bp3 UTSW 4 137,949,419 (GRCm39) start codon destroyed probably null 0.99
R5423:Hp1bp3 UTSW 4 137,953,208 (GRCm39) missense probably damaging 1.00
R5583:Hp1bp3 UTSW 4 137,949,426 (GRCm39) missense probably damaging 1.00
R5597:Hp1bp3 UTSW 4 137,948,939 (GRCm39) start codon destroyed possibly damaging 0.91
R6051:Hp1bp3 UTSW 4 137,961,615 (GRCm39) missense possibly damaging 0.93
R6208:Hp1bp3 UTSW 4 137,944,481 (GRCm39) start gained probably benign
R7077:Hp1bp3 UTSW 4 137,966,929 (GRCm39) missense probably damaging 1.00
R7728:Hp1bp3 UTSW 4 137,953,307 (GRCm39) missense probably damaging 0.96
R8312:Hp1bp3 UTSW 4 137,950,750 (GRCm39) intron probably benign
X0027:Hp1bp3 UTSW 4 137,968,984 (GRCm39) missense probably damaging 1.00
Z1176:Hp1bp3 UTSW 4 137,948,984 (GRCm39) missense not run
Z1177:Hp1bp3 UTSW 4 137,948,984 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- GCTCTAGGTTGACTCTTCACCACAC -3'
(R):5'- TCCTCCATGCAAACGCTTTAGACAC -3'

Sequencing Primer
(F):5'- CCACACTGAAGCCGTTAGG -3'
(R):5'- CAAGAATGCATCAGCCCCTA -3'
Posted On 2013-05-23