Incidental Mutation 'R0652:Hp1bp3'
ID 62281
Institutional Source Beutler Lab
Gene Symbol Hp1bp3
Ensembl Gene ENSMUSG00000028759
Gene Name heterochromatin protein 1, binding protein 3
Synonyms Hp1bp74
MMRRC Submission 038837-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R0652 (G1)
Quality Score 172
Status Not validated
Chromosome 4
Chromosomal Location 137943607-137971994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 137956080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 50 (N50K)
Ref Sequence ENSEMBL: ENSMUSP00000122005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030541] [ENSMUST00000097836] [ENSMUST00000105825] [ENSMUST00000105826] [ENSMUST00000105827] [ENSMUST00000124305] [ENSMUST00000137851] [ENSMUST00000165861] [ENSMUST00000148681] [ENSMUST00000137865]
AlphaFold Q3TEA8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030541
AA Change: N214K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: N214K

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 possibly damaging
Transcript: ENSMUST00000097836
AA Change: N176K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: N176K

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 possibly damaging
Transcript: ENSMUST00000105825
AA Change: N176K

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: N176K

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 possibly damaging
Transcript: ENSMUST00000105826
AA Change: N214K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: N214K

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 possibly damaging
Transcript: ENSMUST00000105827
AA Change: N214K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: N214K

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
AA Change: N163K

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120587
Gene: ENSMUSG00000028759
AA Change: N163K

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 possibly damaging
Transcript: ENSMUST00000137851
AA Change: N176K

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118913
Gene: ENSMUSG00000028759
AA Change: N176K

DomainStartEndE-ValueType
low complexity region 58 95 N/A INTRINSIC
H15 119 186 1.3e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165861
AA Change: N214K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: N214K

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 possibly damaging
Transcript: ENSMUST00000148681
AA Change: N50K

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122005
Gene: ENSMUSG00000028759
AA Change: N50K

DomainStartEndE-ValueType
H15 3 60 2.05e-6 SMART
H15 89 156 7.29e-12 SMART
H15 171 239 1.78e-15 SMART
low complexity region 263 287 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154581
Predicted Effect probably benign
Transcript: ENSMUST00000137865
SMART Domains Protein: ENSMUSP00000117216
Gene: ENSMUSG00000028759

DomainStartEndE-ValueType
low complexity region 59 74 N/A INTRINSIC
low complexity region 83 120 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.3%
  • 20x: 90.1%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,042,889 (GRCm39) N387D probably benign Het
Adgrg5 T A 8: 95,660,785 (GRCm39) probably null Het
Ahi1 C A 10: 20,855,360 (GRCm39) H556Q probably damaging Het
Amph A G 13: 19,270,791 (GRCm39) probably null Het
Apol7a T C 15: 77,274,055 (GRCm39) probably benign Het
Apoo-ps A T 13: 107,550,910 (GRCm39) noncoding transcript Het
Arpc1b A G 5: 145,063,670 (GRCm39) D306G probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Atm A G 9: 53,397,314 (GRCm39) V1673A probably damaging Het
B3gnt3 A T 8: 72,146,466 (GRCm39) V21E probably benign Het
Bco1 A G 8: 117,832,435 (GRCm39) D77G probably damaging Het
Brinp2 A T 1: 158,074,191 (GRCm39) H643Q probably damaging Het
Bsn A G 9: 107,982,941 (GRCm39) F3604S unknown Het
Cacna1c A G 6: 118,579,190 (GRCm39) F1753L probably damaging Het
Cd74 T C 18: 60,944,957 (GRCm39) S201P probably damaging Het
Cep192 T A 18: 67,940,336 (GRCm39) L101Q probably benign Het
Cfap161 T C 7: 83,442,484 (GRCm39) I110V probably null Het
Cnksr3 T C 10: 7,070,463 (GRCm39) D257G probably damaging Het
Col14a1 A C 15: 55,208,278 (GRCm39) E121A unknown Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Ctnnd1 A G 2: 84,433,240 (GRCm39) I609T probably benign Het
Cyp2s1 A G 7: 25,508,683 (GRCm39) V253A probably damaging Het
Dock7 T C 4: 98,943,586 (GRCm39) D552G possibly damaging Het
Dpyd A G 3: 119,220,924 (GRCm39) D965G probably damaging Het
Efcab2 T A 1: 178,308,911 (GRCm39) M138K probably damaging Het
Eml3 T C 19: 8,910,649 (GRCm39) S204P probably damaging Het
Fbxw16 T A 9: 109,265,236 (GRCm39) S432C possibly damaging Het
Fbxw20 T G 9: 109,061,400 (GRCm39) Q116H probably damaging Het
Fech A G 18: 64,591,240 (GRCm39) S395P probably damaging Het
Fgf7 A G 2: 125,877,875 (GRCm39) K81E probably benign Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Ganab A T 19: 8,892,766 (GRCm39) probably null Het
Gfra1 T C 19: 58,288,986 (GRCm39) N153S possibly damaging Het
Gja4 T A 4: 127,205,920 (GRCm39) Y281F probably benign Het
Gm5141 T C 13: 62,921,946 (GRCm39) T407A probably damaging Het
Gm5422 T C 10: 31,125,277 (GRCm39) noncoding transcript Het
Greb1 T C 12: 16,746,457 (GRCm39) Y1271C probably damaging Het
Hspg2 T C 4: 137,242,033 (GRCm39) F589S probably damaging Het
Ido1 A G 8: 25,075,260 (GRCm39) F183S probably damaging Het
Iqgap1 T A 7: 80,386,143 (GRCm39) K936I probably damaging Het
Kdm4a T C 4: 118,032,886 (GRCm39) D60G probably benign Het
L3mbtl4 G A 17: 69,081,286 (GRCm39) C558Y probably damaging Het
Lrrc28 T C 7: 67,267,833 (GRCm39) N98S probably damaging Het
Lypd11 T A 7: 24,423,622 (GRCm39) N14I possibly damaging Het
Map1a A G 2: 121,133,264 (GRCm39) D1360G probably benign Het
Megf10 C T 18: 57,410,796 (GRCm39) P702S probably benign Het
Met A G 6: 17,491,709 (GRCm39) E157G probably benign Het
Mff A G 1: 82,728,285 (GRCm39) D187G possibly damaging Het
Mlph A T 1: 90,870,630 (GRCm39) I514F possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Myo15b T C 11: 115,755,468 (GRCm39) V976A probably benign Het
Myo9a A G 9: 59,779,209 (GRCm39) D1655G probably benign Het
Ncoa6 C T 2: 155,233,131 (GRCm39) G2059D probably benign Het
Ndst4 A T 3: 125,405,188 (GRCm39) H481L possibly damaging Het
Nipbl A G 15: 8,332,964 (GRCm39) S2220P probably benign Het
Nom1 C A 5: 29,640,309 (GRCm39) P212T probably damaging Het
Nsd1 A G 13: 55,395,399 (GRCm39) D1000G possibly damaging Het
Nudt9 T C 5: 104,198,467 (GRCm39) F44S possibly damaging Het
Numb C T 12: 83,842,566 (GRCm39) V537I probably damaging Het
Or10j3b T A 1: 173,043,524 (GRCm39) I102N possibly damaging Het
Or13a27 A T 7: 139,925,545 (GRCm39) M119K probably damaging Het
Or51q1c A G 7: 103,652,446 (GRCm39) probably null Het
Or5b109 A T 19: 13,211,899 (GRCm39) Y95F possibly damaging Het
Or5h17 A G 16: 58,820,063 (GRCm39) N5S probably damaging Het
Or6c211 T A 10: 129,506,248 (GRCm39) T47S probably benign Het
Osgin1 A T 8: 120,172,211 (GRCm39) Y335F probably damaging Het
Pcdh10 T A 3: 45,334,199 (GRCm39) V171E probably damaging Het
Pira13 T A 7: 3,825,762 (GRCm39) Y369F probably benign Het
Plxna4 T C 6: 32,162,436 (GRCm39) N1359S probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Prr5l T C 2: 101,602,635 (GRCm39) T2A possibly damaging Het
Rbp3 T A 14: 33,680,605 (GRCm39) I1069N possibly damaging Het
Rnf144b A G 13: 47,373,983 (GRCm39) Y60C probably damaging Het
Sbno2 A T 10: 79,903,128 (GRCm39) V396E probably damaging Het
Sdk1 A G 5: 141,940,713 (GRCm39) T494A probably benign Het
Serac1 G T 17: 6,102,031 (GRCm39) D384E probably damaging Het
Sgk1 A G 10: 21,758,556 (GRCm39) N7D probably damaging Het
Sigirr A T 7: 140,672,980 (GRCm39) V69D possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
St6gal2 T C 17: 55,805,290 (GRCm39) Y396H probably benign Het
Ttn A T 2: 76,598,956 (GRCm39) F19319Y probably damaging Het
Ubr4 T A 4: 139,128,637 (GRCm39) I599N probably damaging Het
Vmn1r213 A G 13: 23,195,564 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,817,830 (GRCm39) M469K probably benign Het
Wasf1 T A 10: 40,807,902 (GRCm39) probably null Het
Wdr20rt T C 12: 65,272,689 (GRCm39) S51P 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
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
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'- CCTAACTGCACTGAACTGAAGCACG -3'
(R):5'- GTGGCCTTCTGAAGGAGTGATGAC -3'

Sequencing Primer
(F):5'- GAAAGCCATTCAGAGTGTCTAAC -3'
(R):5'- cgccttcaatcccagcac -3'
Posted On 2013-07-30