Mutagenetix > Incidental Mutation

Incidental Mutation 'R2255:Hp1bp3'

241934

Institutional Source

Beutler Lab

Gene Symbol

Hp1bp3

Ensembl Gene

ENSMUSG00000028759

Gene Name

heterochromatin protein 1, binding protein 3

Synonyms

Hp1bp74

MMRRC Submission

040255-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R2255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137943607-137971994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137953209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 84 (D84E)

Ref Sequence

ENSEMBL: ENSMUSP00000101451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030541] [ENSMUST00000097836] [ENSMUST00000105825] [ENSMUST00000105826] [ENSMUST00000105827] [ENSMUST00000124305] [ENSMUST00000130071] [ENSMUST00000137851] [ENSMUST00000137865] [ENSMUST00000165861] [ENSMUST00000148681]

AlphaFold

Q3TEA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030541
AA Change: D122E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: D122E

Domain	Start	End	E-Value	Type
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: D84E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: D84E

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000105825
AA Change: D84E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: D84E

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000105826
AA Change: D122E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: D122E

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000105827
AA Change: D122E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: D122E

Domain	Start	End	E-Value	Type
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: D71E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120587
Gene: ENSMUSG00000028759
AA Change: D71E

Domain	Start	End	E-Value	Type
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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137851
AA Change: D84E

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118913
Gene: ENSMUSG00000028759
AA Change: D84E

Domain	Start	End	E-Value	Type
low complexity region	58	95	N/A	INTRINSIC
H15	119	186	1.3e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137865
AA Change: D109E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117216
Gene: ENSMUSG00000028759
AA Change: D109E

Domain	Start	End	E-Value	Type
low complexity region	59	74	N/A	INTRINSIC
low complexity region	83	120	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165861
AA Change: D122E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: D122E

Domain	Start	End	E-Value	Type
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: ENSMUST00000155344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142420

Predicted Effect

probably benign
Transcript: ENSMUST00000148681

SMART Domains

Protein: ENSMUSP00000122005
Gene: ENSMUSG00000028759

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	A	17: 46,616,561 (GRCm39)	T1210I	probably benign	Het
Agbl1	T	C	7: 76,071,932 (GRCm39)	F581S	probably damaging	Het
Ambra1	A	T	2: 91,747,806 (GRCm39)	N1061Y	probably damaging	Het
Aoc1l1	G	A	6: 48,952,891 (GRCm39)	R272H	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,361 (GRCm39)	L132S	probably damaging	Het
Atp10b	G	A	11: 43,125,207 (GRCm39)	V1058I	probably damaging	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Bpifa6	T	A	2: 153,832,815 (GRCm39)	I310N	probably damaging	Het
Btnl9	A	T	11: 49,060,143 (GRCm39)	L535*	probably null	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Catip	T	C	1: 74,408,159 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,921,996 (GRCm39)	S1023R	probably damaging	Het
Ces2g	G	A	8: 105,694,046 (GRCm39)	E461K	probably damaging	Het
Chad	C	A	11: 94,456,523 (GRCm39)	H200Q	possibly damaging	Het
Crbn	C	T	6: 106,772,159 (GRCm39)		probably null	Het
Crip3	G	C	17: 46,740,298 (GRCm39)	E33Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,894 (GRCm39)	R105S	probably damaging	Het
Dmxl1	C	T	18: 49,979,706 (GRCm39)	H114Y	probably benign	Het
Dpp3	T	C	19: 4,968,347 (GRCm39)	N242D	probably benign	Het
Dtx3l	T	C	16: 35,756,949 (GRCm39)	N78S	probably benign	Het
Dync2h1	A	G	9: 6,955,905 (GRCm39)		probably null	Het
Esrp1	A	G	4: 11,365,211 (GRCm39)	V260A	probably damaging	Het
Etfdh	A	G	3: 79,511,349 (GRCm39)	V544A	probably benign	Het
Ezhip	T	G	X: 5,994,754 (GRCm39)	E87A	probably benign	Het
Fcgr1	G	T	3: 96,193,233 (GRCm39)	H255N	possibly damaging	Het
Fcrl2	G	T	3: 87,164,655 (GRCm39)	Y290*	probably null	Het
Frem2	A	G	3: 53,559,935 (GRCm39)	V1524A	probably damaging	Het
Gabbr1	T	C	17: 37,382,758 (GRCm39)	I817T	probably damaging	Het
Gapdhs	G	C	7: 30,429,333 (GRCm39)		probably null	Het
Gm57858	A	G	3: 36,074,099 (GRCm39)	V350A	probably benign	Het
Gopc	A	T	10: 52,225,181 (GRCm39)	I356K	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Gpr171	A	G	3: 59,005,628 (GRCm39)	V49A	probably benign	Het
Greb1l	T	A	18: 10,554,857 (GRCm39)	N1634K	probably damaging	Het
Gria1	G	A	11: 57,076,775 (GRCm39)	R57H	probably damaging	Het
Herpud1	A	G	8: 95,121,241 (GRCm39)	E344G	probably benign	Het
Hhip	A	G	8: 80,771,810 (GRCm39)	F167L	probably damaging	Het
Ier3	A	G	17: 36,133,153 (GRCm39)	Y145C	probably damaging	Het
Ifi47	A	T	11: 48,987,474 (GRCm39)	I414L	probably benign	Het
Ifnl2	C	T	7: 28,209,638 (GRCm39)	A50T	possibly damaging	Het
Jade1	A	G	3: 41,546,185 (GRCm39)	Y70C	probably damaging	Het
Kif1b	A	T	4: 149,359,454 (GRCm39)	F94L	probably damaging	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,523 (GRCm39)	L26S	possibly damaging	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nae1	T	A	8: 105,256,700 (GRCm39)	D69V	probably damaging	Het
Nbr1	T	A	11: 101,463,643 (GRCm39)	V625E	possibly damaging	Het
Nek1	T	C	8: 61,542,807 (GRCm39)	L702P	probably damaging	Het
Ntf3	T	C	6: 126,078,689 (GRCm39)	*272W	probably null	Het
Ofcc1	A	C	13: 40,248,181 (GRCm39)	L651R	probably damaging	Het
Olfm3	A	T	3: 114,915,842 (GRCm39)		probably null	Het
Pcdhb19	C	T	18: 37,630,997 (GRCm39)	A264V	probably benign	Het
Pear1	C	A	3: 87,659,493 (GRCm39)	W780C	probably damaging	Het
Pkhd1	T	A	1: 20,635,863 (GRCm39)	H489L	probably benign	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Rbm10	G	A	X: 20,501,978 (GRCm39)	R9H	unknown	Het
Rwdd1	T	C	10: 33,878,466 (GRCm39)	E123G	probably damaging	Het
Slc22a2	G	T	17: 12,818,062 (GRCm39)	V213F	probably damaging	Het
Slc34a1	T	C	13: 24,004,991 (GRCm39)	I412T	probably benign	Het
Smarca2	A	T	19: 26,748,438 (GRCm39)	I98L	probably benign	Het
Spag6l	T	C	16: 16,595,203 (GRCm39)	E394G	probably damaging	Het
Spdef	T	C	17: 27,939,269 (GRCm39)	T26A	probably benign	Het
Stk17b	T	C	1: 53,815,731 (GRCm39)	I23V	probably benign	Het
Sult2a7	A	G	7: 14,225,818 (GRCm39)	I56T	probably damaging	Het
Tango6	T	A	8: 107,415,926 (GRCm39)		probably null	Het
Tex46	T	C	4: 136,337,844 (GRCm39)	L12P	possibly damaging	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc5cl	T	A	17: 48,766,974 (GRCm39)	I116N	possibly damaging	Het
Unc80	A	T	1: 66,657,417 (GRCm39)	I1630F	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Whrn	C	T	4: 63,336,385 (GRCm39)	V295M	possibly damaging	Het
Wrn	G	A	8: 33,819,230 (GRCm39)	P241S	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp687	A	T	3: 94,917,748 (GRCm39)	C675S	probably damaging	Het
Zfp954	A	G	7: 7,118,321 (GRCm39)	Y408H	possibly damaging	Het

Other mutations in Hp1bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TAACCCGGGTCTCTTTCCGTAG -3'
(R):5'- AAAGCCTGAGTTGAAATGCTTG -3'

Sequencing Primer
(F):5'- ATGTATAGGTGCTCAAGCCC -3'
(R):5'- GCCTGAGTTGAAATGCTTGAAATAAC -3'

Posted On

2014-10-16