Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Hp1bp3'

549267

Institutional Source

Beutler Lab

Gene Symbol

Hp1bp3

Ensembl Gene

ENSMUSG00000028759

Gene Name

heterochromatin protein 1, binding protein 3

Synonyms

Hp1bp74

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138216296-138244683 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138239618 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 408 (T408N)

Ref Sequence

ENSEMBL: ENSMUSP00000030541 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030541
AA Change: T408N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: T408N

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

probably damaging
Transcript: ENSMUST00000097836
AA Change: T370N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: T370N

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: T370N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: T370N

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: T408N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: T408N

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: T408N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: T408N

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: ENSMUST00000148681
AA Change: T244N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122005
Gene: ENSMUSG00000028759
AA Change: T244N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165861
AA Change: T408N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: T408N

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

Meta Mutation Damage Score

0.1344

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Hp1bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Hp1bp3	APN	4	138240629	missense	possibly damaging	0.85
IGL02407:Hp1bp3	APN	4	138240672	missense	probably damaging	1.00
IGL03036:Hp1bp3	APN	4	138228732	missense	probably damaging	1.00
Supermicro	UTSW	4	138225897	missense	probably damaging	1.00
R0009:Hp1bp3	UTSW	4	138221683	missense	probably benign	0.45
R0009:Hp1bp3	UTSW	4	138221683	missense	probably benign	0.45
R0128:Hp1bp3	UTSW	4	138237209	missense	probably damaging	1.00
R0130:Hp1bp3	UTSW	4	138237209	missense	probably damaging	1.00
R0131:Hp1bp3	UTSW	4	138237209	missense	probably damaging	1.00
R0131:Hp1bp3	UTSW	4	138237209	missense	probably damaging	1.00
R0132:Hp1bp3	UTSW	4	138237209	missense	probably damaging	1.00
R0344:Hp1bp3	UTSW	4	138237209	missense	probably damaging	1.00
R0522:Hp1bp3	UTSW	4	138222161	missense	possibly damaging	0.77
R0652:Hp1bp3	UTSW	4	138228769	missense	possibly damaging	0.75
R1240:Hp1bp3	UTSW	4	138229698	missense	probably damaging	1.00
R1793:Hp1bp3	UTSW	4	138230509	missense	probably damaging	1.00
R1871:Hp1bp3	UTSW	4	138222186	missense	probably damaging	1.00
R2018:Hp1bp3	UTSW	4	138221632	missense	probably damaging	1.00
R2060:Hp1bp3	UTSW	4	138240672	missense	probably damaging	1.00
R2255:Hp1bp3	UTSW	4	138225898	missense	probably damaging	0.98
R3721:Hp1bp3	UTSW	4	138239608	missense	probably damaging	1.00
R3930:Hp1bp3	UTSW	4	138221707	missense	probably benign	0.29
R5042:Hp1bp3	UTSW	4	138222108	start codon destroyed	probably null	0.99
R5423:Hp1bp3	UTSW	4	138225897	missense	probably damaging	1.00
R5583:Hp1bp3	UTSW	4	138222115	missense	probably damaging	1.00
R5597:Hp1bp3	UTSW	4	138221628	start codon destroyed	possibly damaging	0.91
R6051:Hp1bp3	UTSW	4	138234304	missense	possibly damaging	0.93
R6208:Hp1bp3	UTSW	4	138217170	start gained	probably benign
R7728:Hp1bp3	UTSW	4	138225996	missense	probably damaging	0.96
R8312:Hp1bp3	UTSW	4	138223439	intron	probably benign
X0027:Hp1bp3	UTSW	4	138241673	missense	probably damaging	1.00
Z1176:Hp1bp3	UTSW	4	138221673	missense	not run
Z1177:Hp1bp3	UTSW	4	138221673	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGGCACAAAGGACTATACTAGTTC -3'
(R):5'- GTCAAGACAGCAGGAATGCC -3'

Sequencing Primer
(F):5'- AGGACTATACTAGTTCATGTCTGTG -3'
(R):5'- AGCAGGAATGCCCACTCTAGTG -3'

Posted On

2019-05-15