Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Hp1bp3'

26419

Institutional Source

Beutler Lab

Gene Symbol

Hp1bp3

Ensembl Gene

ENSMUSG00000028759

Gene Name

heterochromatin protein 1, binding protein 3

Synonyms

Hp1bp74

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137943607-137971994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137964520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 348 (S348F)

Ref Sequence

ENSEMBL: ENSMUSP00000132614 (fasta)

Gene Model

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

AlphaFold

Q3TEA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030541
AA Change: S348F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030541
Gene: ENSMUSG00000028759
AA Change: S348F

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: S310F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095447
Gene: ENSMUSG00000028759
AA Change: S310F

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: S310F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101451
Gene: ENSMUSG00000028759
AA Change: S310F

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: S348F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101452
Gene: ENSMUSG00000028759
AA Change: S348F

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: S348F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101453
Gene: ENSMUSG00000028759
AA Change: S348F

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: S184F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122005
Gene: ENSMUSG00000028759
AA Change: S184F

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

noncoding transcript
Transcript: ENSMUST00000155344

Predicted Effect

probably damaging
Transcript: ENSMUST00000165861
AA Change: S348F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132614
Gene: ENSMUSG00000028759
AA Change: S348F

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

0.1066

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	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
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'- ACTGTATCTGTGCTGAGGCAGGAG -3'
(R):5'- ACCTAGCACCTGAAAAGCTGAGGC -3'

Sequencing Primer
(F):5'- CTGAGGCAGGAGCCGAC -3'
(R):5'- ggatcaaactcacaatcatctatcac -3'

Posted On

2013-04-16