Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Baz1b'

236357

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

WSTF, Wbscr9

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135187264-135246129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135217275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 526 (R526H)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002825]

AlphaFold

Q9Z277

Predicted Effect

probably damaging
Transcript: ENSMUST00000002825
AA Change: R526H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: R526H

Domain	Start	End	E-Value	Type
Pfam:WAC_Acf1_DNA_bd	21	120	2.6e-28	PFAM
low complexity region	312	335	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
low complexity region	482	493	N/A	INTRINSIC
coiled coil region	537	587	N/A	INTRINSIC
DDT	605	669	5.59e-17	SMART
Pfam:WHIM1	725	773	2.2e-9	PFAM
low complexity region	822	835	N/A	INTRINSIC
coiled coil region	854	890	N/A	INTRINSIC
Pfam:WHIM2	900	935	1.3e-10	PFAM
Pfam:WHIM3	991	1029	1.5e-16	PFAM
low complexity region	1131	1148	N/A	INTRINSIC
PHD	1186	1232	1.89e-14	SMART
RING	1187	1231	7.85e-2	SMART
low complexity region	1245	1277	N/A	INTRINSIC
BROMO	1333	1441	3.63e-37	SMART
low complexity region	1459	1472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142307

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,616,675		probably null	Het
Adgrb3	G	T	1: 25,068,209	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Angpt2	T	C	8: 18,714,140	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,082,936	K236*	probably null	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Btnl9	G	T	11: 49,170,626		probably null	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cdh8	C	A	8: 99,111,693	C505F	probably damaging	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Ces1c	T	A	8: 93,130,840	I38F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Col25a1	A	G	3: 130,570,316	H546R	probably damaging	Het
Crot	A	T	5: 8,987,780	Y179N	possibly damaging	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Ddb1	T	C	19: 10,619,126		probably null	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Elf2	A	G	3: 51,256,440	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Fbn1	T	G	2: 125,412,708	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,505,865	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gdf2	A	G	14: 33,945,241	T307A	probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm266	C	T	12: 111,485,181	R197K	possibly damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gns	G	A	10: 121,392,778	R498H	probably damaging	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
Grk6	T	C	13: 55,454,364	W335R	probably damaging	Het
Helz2	T	C	2: 181,231,380	E2379G	probably benign	Het
Hmx2	A	T	7: 131,555,859	D234V	probably damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTTCT	1: 135,386,282		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Itpkc	A	G	7: 27,219,650	V397A	possibly damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Kdr	T	C	5: 75,968,423	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,333,503	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,934,998	N338S	probably damaging	Het
Mical3	A	T	6: 121,031,134		probably null	Het
Micall1	T	C	15: 79,130,795	Y751H	probably damaging	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myh2	A	G	11: 67,189,332	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,108	E87G	probably benign	Het
Nat10	T	C	2: 103,731,303		probably null	Het
Nipa1	C	A	7: 55,997,511		probably null	Het
Nrbp1	A	G	5: 31,247,929	E287G	possibly damaging	Het
Nup188	T	A	2: 30,336,706	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1012	C	T	2: 85,759,677	R233H	probably benign	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1298	C	A	2: 111,645,221	V259L	probably benign	Het
Olfr1383	A	G	11: 49,523,839	I39V	probably benign	Het
Olfr642	C	T	7: 104,050,300	G18D	probably damaging	Het
Olfr786	A	G	10: 129,437,747	K312E	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Panx3	G	C	9: 37,666,673	S87W	probably damaging	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,422,123	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,559	G605V	probably damaging	Het
Phkg2	G	A	7: 127,582,214		probably null	Het
Pkhd1	T	A	1: 20,523,895	K1331N	probably benign	Het
Plcb4	G	A	2: 135,976,099	V762M	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,044		probably null	Het
Prb1	T	A	6: 132,207,203	Q489L	unknown	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psme4	A	G	11: 30,820,998	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,337,228		probably null	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rit2	A	G	18: 31,153,713	F140L	probably benign	Het
Rorc	G	A	3: 94,389,526	R271Q	probably benign	Het
Sall3	A	T	18: 80,969,831	M1130K	probably damaging	Het
Sart3	T	C	5: 113,764,093	E141G	probably damaging	Het
Serpina9	T	C	12: 104,008,309	D195G	probably benign	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tarsl2	A	T	7: 65,658,897	I272L	probably benign	Het
Tas2r115	T	C	6: 132,737,358	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,826,899	H294Y	probably benign	Het
Tigd4	A	G	3: 84,594,363	T196A	possibly damaging	Het
Treh	G	A	9: 44,681,141	M54I	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,812,048	D207G	probably damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp473	T	C	7: 44,733,077	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,479,726	I4T	probably damaging	Het
Zfp638	T	A	6: 83,986,596	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,708,192	H333N	probably damaging	Het

Other mutations in Baz1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Baz1b	APN	5	135216590	missense	probably damaging	0.99
IGL00589:Baz1b	APN	5	135196492	missense	possibly damaging	0.50
IGL00736:Baz1b	APN	5	135240032	missense	probably damaging	1.00
IGL02053:Baz1b	APN	5	135242466	missense	probably benign	0.00
IGL02197:Baz1b	APN	5	135209097	missense	probably benign	0.20
IGL02236:Baz1b	APN	5	135217284	missense	probably damaging	1.00
IGL02351:Baz1b	APN	5	135244306	missense	probably damaging	1.00
IGL02358:Baz1b	APN	5	135244306	missense	probably damaging	1.00
IGL02424:Baz1b	APN	5	135217979	missense	probably damaging	1.00
IGL03051:Baz1b	APN	5	135217225	missense	probably benign	0.02
PIT4480001:Baz1b	UTSW	5	135217965	missense	probably damaging	1.00
R0097:Baz1b	UTSW	5	135198259	missense	probably benign	0.11
R0097:Baz1b	UTSW	5	135198259	missense	probably benign	0.11
R0365:Baz1b	UTSW	5	135240131	missense	probably benign	0.00
R0655:Baz1b	UTSW	5	135242430	missense	probably benign	0.00
R0698:Baz1b	UTSW	5	135198221	missense	probably damaging	1.00
R0959:Baz1b	UTSW	5	135244222	missense	probably damaging	1.00
R1411:Baz1b	UTSW	5	135230323	missense	possibly damaging	0.73
R1469:Baz1b	UTSW	5	135217979	missense	probably damaging	1.00
R1469:Baz1b	UTSW	5	135217979	missense	probably damaging	1.00
R1511:Baz1b	UTSW	5	135217782	missense	probably damaging	1.00
R1557:Baz1b	UTSW	5	135218243	missense	possibly damaging	0.94
R1674:Baz1b	UTSW	5	135205111	missense	probably damaging	1.00
R1760:Baz1b	UTSW	5	135242524	missense	probably benign
R1951:Baz1b	UTSW	5	135216739	missense	probably benign	0.11
R2058:Baz1b	UTSW	5	135217225	missense	probably benign	0.02
R2060:Baz1b	UTSW	5	135205114	missense	probably damaging	1.00
R2496:Baz1b	UTSW	5	135210775	missense	probably damaging	1.00
R4088:Baz1b	UTSW	5	135216940	missense	probably damaging	0.96
R4397:Baz1b	UTSW	5	135244446	missense	probably damaging	1.00
R4784:Baz1b	UTSW	5	135217413	missense	possibly damaging	0.51
R4785:Baz1b	UTSW	5	135217413	missense	possibly damaging	0.51
R5386:Baz1b	UTSW	5	135238059	missense	probably damaging	1.00
R5653:Baz1b	UTSW	5	135209097	missense	probably benign	0.20
R5808:Baz1b	UTSW	5	135221958	missense	probably benign	0.00
R6010:Baz1b	UTSW	5	135217451	missense	possibly damaging	0.82
R6014:Baz1b	UTSW	5	135217394	missense	probably damaging	1.00
R6173:Baz1b	UTSW	5	135242507	missense	probably benign
R6194:Baz1b	UTSW	5	135243890	missense	probably damaging	0.99
R6419:Baz1b	UTSW	5	135242494	missense	probably benign
R6435:Baz1b	UTSW	5	135237945	missense	probably damaging	1.00
R7078:Baz1b	UTSW	5	135217439	missense	probably benign	0.04
R7341:Baz1b	UTSW	5	135223116	missense	probably damaging	1.00
R7683:Baz1b	UTSW	5	135217728	missense	probably damaging	0.97
R7922:Baz1b	UTSW	5	135231679	missense	probably damaging	0.99
R8188:Baz1b	UTSW	5	135205062	missense	probably benign	0.12
R8429:Baz1b	UTSW	5	135217331	missense	probably benign	0.01
R8436:Baz1b	UTSW	5	135237967	missense	probably damaging	1.00
R8489:Baz1b	UTSW	5	135216855	missense	probably damaging	1.00
R8688:Baz1b	UTSW	5	135242489	missense	probably benign	0.01
R8771:Baz1b	UTSW	5	135244297	missense	probably benign	0.19
R8832:Baz1b	UTSW	5	135217376	missense	possibly damaging	0.95
R9086:Baz1b	UTSW	5	135231684	missense	probably damaging	1.00
R9192:Baz1b	UTSW	5	135210794	missense	possibly damaging	0.93
R9340:Baz1b	UTSW	5	135217875	missense	probably benign	0.09
R9356:Baz1b	UTSW	5	135210799	missense	probably benign	0.08
R9448:Baz1b	UTSW	5	135210802	missense	probably damaging	1.00
R9507:Baz1b	UTSW	5	135205117	missense	probably damaging	1.00
R9559:Baz1b	UTSW	5	135187678	missense	probably benign	0.05
R9651:Baz1b	UTSW	5	135223168	missense	probably benign
R9694:Baz1b	UTSW	5	135244240	missense	probably benign	0.00
X0027:Baz1b	UTSW	5	135216892	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCAAGGTCTTCTGGTAAACC -3'
(R):5'- CCTGAATGCTGGGAGGTTTC -3'

Sequencing Primer
(F):5'- GGTCTTCTGGTAAACCTCACAAAC -3'
(R):5'- GGAGGTTTCTGCCACCTAAC -3'

Posted On

2014-10-01