Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Baz1b'

325533

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

WSTF, Wbscr9

MMRRC Submission

041685-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135187264-135246129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135244446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1475 (R1475W)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002825] [ENSMUST00000062572]

AlphaFold

Q9Z277

Predicted Effect

probably damaging
Transcript: ENSMUST00000002825
AA Change: R1475W

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

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: R1475W

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

probably benign
Transcript: ENSMUST00000062572

SMART Domains

Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FRI	39	158	1.97e-73	SMART
low complexity region	177	195	N/A	INTRINSIC
Frizzled	222	548	4.64e-199	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136947

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Agap2	G	A	10: 127,090,483	A866T	unknown	Het
Aig1	A	C	10: 13,652,982	S237A	probably benign	Het
Bmp1	C	T	14: 70,490,542		probably null	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Dnajc15	T	C	14: 77,874,794		probably null	Het
Fam135b	T	A	15: 71,448,676	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897	H113Q	probably benign	Het
Gfap	G	A	11: 102,896,984	A45V	probably benign	Het
Gjd3	A	T	11: 98,982,421	L199Q	probably damaging	Het
Gm8979	A	G	7: 106,082,923		noncoding transcript	Het
H13	A	G	2: 152,677,552	D65G	probably damaging	Het
Hcls1	T	C	16: 36,937,300	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Iqgap3	T	C	3: 88,104,358	Y817H	probably damaging	Het
Iqsec2	C	T	X: 152,209,053	T562I	probably damaging	Het
Klb	A	G	5: 65,380,039	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,199,610	S354T	probably benign	Het
Lamc3	A	G	2: 31,931,952	E1304G	probably benign	Het
Lrp4	T	C	2: 91,511,670	V1876A	probably benign	Het
Magi3	T	C	3: 104,219,714	T85A	probably damaging	Het
Map3k12	C	T	15: 102,501,259	A694T	probably benign	Het
Mex3b	T	C	7: 82,869,823	S449P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nars2	T	C	7: 96,973,564		probably null	Het
Nlrp1a	T	G	11: 71,097,204	M1046L	probably benign	Het
Nphs1	T	G	7: 30,481,965		probably null	Het
Nup133	G	A	8: 123,944,301	T119M	probably benign	Het
Olfr770	G	T	10: 129,133,581	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,738,641	I508F	probably damaging	Het
Phactr3	A	G	2: 178,175,406		probably benign	Het
Plcb3	T	C	19: 6,965,825	K155E	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Prss38	T	C	11: 59,373,028	Y286C	probably damaging	Het
Psg16	T	C	7: 17,090,698	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,688,248	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,715,060	V105A	probably damaging	Het
Rnf7	A	G	9: 96,478,410	M58T	probably benign	Het
Slc25a11	G	A	11: 70,644,851	A287V	probably benign	Het
Slit2	G	T	5: 48,220,081		probably null	Het
Suco	A	G	1: 161,844,852	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,678,662	Q804*	probably null	Het
Trpv6	A	G	6: 41,625,238	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Virma	A	G	4: 11,513,901	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,417,978	D549V	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
R2142:Baz1b	UTSW	5	135217275	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
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'- TGCCGAGCTCTATAACTGCC -3'
(R):5'- CAAGAGCTTGCCTTTGCTGG -3'

Sequencing Primer
(F):5'- AGCTCTATAACTGCCGCGGC -3'
(R):5'- CTTTGCTGGAAAAAGGCCCCATG -3'

Posted On

2015-07-06