Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Hp1bp3'

60466

Institutional Source

Beutler Lab

Gene Symbol

Hp1bp3

Ensembl Gene

ENSMUSG00000028759

Gene Name

heterochromatin protein 1, binding protein 3

Synonyms

Hp1bp74

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R0131 (G1)

Quality Score

225

Status

Not 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: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,833,115 (GRCm39)	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,651,114 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bicd1	A	G	6: 149,414,445 (GRCm39)	E386G	probably damaging	Het
Bmal2	C	A	6: 146,729,601 (GRCm39)	H471N	probably benign	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cacna1c	T	C	6: 118,602,473 (GRCm39)	I1428V	probably damaging	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Cldnd1	T	C	16: 58,553,355 (GRCm39)	L232P	probably damaging	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Col3a1	T	A	1: 45,368,028 (GRCm39)		probably benign	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Cyc1	G	A	15: 76,229,159 (GRCm39)	V142I	probably benign	Het
Dapk3	A	G	10: 81,028,141 (GRCm39)	T265A	probably benign	Het
Ddx21	A	T	10: 62,420,531 (GRCm39)	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,188,717 (GRCm39)	L1735Q	probably damaging	Het
Dse	A	G	10: 34,029,660 (GRCm39)	Y341H	probably damaging	Het
Elmod2	A	G	8: 84,046,133 (GRCm39)	I148T	probably damaging	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659 (GRCm39)	D98G	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Fcrl2	A	G	3: 87,166,266 (GRCm39)	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,821,465 (GRCm39)	D5733N	probably benign	Het
Gbe1	T	C	16: 70,157,740 (GRCm39)		probably benign	Het
Gm6327	T	C	16: 12,578,909 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Idi2l	T	A	13: 8,990,563 (GRCm39)		probably benign	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Kmt2b	A	T	7: 30,283,346 (GRCm39)	C296S	probably damaging	Het
Lgals4	A	G	7: 28,533,657 (GRCm39)		probably null	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Mylk	T	C	16: 34,695,874 (GRCm39)	V203A	probably benign	Het
Myom2	A	G	8: 15,133,329 (GRCm39)	N407S	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2t6	T	C	14: 14,175,620 (GRCm38)	D154G	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pate3	A	G	9: 35,557,453 (GRCm39)	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,006,440 (GRCm39)	D106G	probably null	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Proc	C	T	18: 32,268,951 (GRCm39)	M11I	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Psg21	A	G	7: 18,388,793 (GRCm39)	Y100H	probably benign	Het
Pten	T	A	19: 32,753,469 (GRCm39)	V45E	probably benign	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rab7b	T	C	1: 131,626,293 (GRCm39)	L107P	probably damaging	Het
Rbm47	T	A	5: 66,183,872 (GRCm39)	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,496,170 (GRCm39)	G122C	probably damaging	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc12a3	G	A	8: 95,067,511 (GRCm39)		probably benign	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Spg11	T	C	2: 121,901,449 (GRCm39)	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tet3	C	G	6: 83,345,770 (GRCm39)	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,280,682 (GRCm39)	S693P	probably benign	Het
Tmcc2	C	T	1: 132,308,444 (GRCm39)	G150D	probably benign	Het
Tmem216	T	C	19: 10,531,970 (GRCm39)	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ubr4	A	G	4: 139,191,362 (GRCm39)	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Wrnip1	G	A	13: 32,990,847 (GRCm39)	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,037,923 (GRCm39)	I305F	possibly damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	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
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'- ACTGTATCTGTGCTGAGGCAGGAG -3'
(R):5'- AAACCTAGCACCTGAAAAGCTGAGG -3'

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

Posted On

2013-07-23