Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03051:Baz1b'

409063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

Wbscr9, WSTF

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03051

Quality Score

Status

Chromosome

Chromosomal Location

135216118-135274983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135246079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 509 (N509K)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9Z277

Predicted Effect

probably benign
Transcript: ENSMUST00000002825
AA Change: N509K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: N509K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,964,283 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,128 (GRCm39)	F76I	possibly damaging	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akap13	T	A	7: 75,260,233 (GRCm39)	C149*	probably null	Het
Appbp2	A	T	11: 85,082,565 (GRCm39)	D555E	possibly damaging	Het
Arhgap25	T	C	6: 87,472,896 (GRCm39)	Q87R	probably null	Het
Ccn4	T	A	15: 66,778,399 (GRCm39)	C73*	probably null	Het
Ces5a	C	A	8: 94,255,226 (GRCm39)	G156C	probably damaging	Het
Chtf18	G	A	17: 25,939,938 (GRCm39)	R723W	probably damaging	Het
Clec4e	A	G	6: 123,266,692 (GRCm39)	S6P	probably benign	Het
Dennd4a	A	G	9: 64,769,696 (GRCm39)	I468V	probably damaging	Het
Epb41l4a	A	T	18: 34,007,825 (GRCm39)	Y233N	probably damaging	Het
Fam210b	C	T	2: 172,194,612 (GRCm39)	H155Y	probably benign	Het
Frmd4b	A	T	6: 97,272,943 (GRCm39)	C770*	probably null	Het
Gpa33	A	G	1: 165,992,790 (GRCm39)	H301R	probably benign	Het
Gpr39	T	A	1: 125,605,485 (GRCm39)	C138S	probably damaging	Het
Gtf2i	T	A	5: 134,271,768 (GRCm39)	K858*	probably null	Het
Ighv7-1	A	T	12: 113,860,576 (GRCm39)		probably benign	Het
Iglv1	T	C	16: 18,903,973 (GRCm39)	T49A	possibly damaging	Het
Kif17	A	C	4: 138,016,565 (GRCm39)	D416A	probably damaging	Het
Mib2	T	C	4: 155,741,747 (GRCm39)	T431A	probably damaging	Het
Mpz	G	A	1: 170,986,380 (GRCm39)	R98H	probably damaging	Het
Naa16	T	C	14: 79,606,522 (GRCm39)	E337G	probably benign	Het
Odam	G	A	5: 88,040,335 (GRCm39)		probably benign	Het
Or1e1f	T	A	11: 73,855,860 (GRCm39)	L142H	probably benign	Het
Parp2	T	C	14: 51,056,805 (GRCm39)		probably benign	Het
Pcdh7	T	G	5: 58,286,415 (GRCm39)	S1164A	probably damaging	Het
Pkp4	G	T	2: 59,142,106 (GRCm39)	A470S	probably benign	Het
Plin4	A	T	17: 56,412,417 (GRCm39)	M538K	possibly damaging	Het
Prex2	T	C	1: 11,212,889 (GRCm39)	V624A	probably damaging	Het
Rps6ka5	A	C	12: 100,582,250 (GRCm39)		probably null	Het
Simc1	T	C	13: 54,674,036 (GRCm39)	S795P	probably benign	Het
Slc35b4	A	T	6: 34,137,406 (GRCm39)		probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt14	T	C	1: 192,615,528 (GRCm39)	N486S	probably benign	Het
Trim59	T	C	3: 68,944,206 (GRCm39)	N378S	probably benign	Het
Wdr17	T	A	8: 55,104,349 (GRCm39)	D908V	probably damaging	Het
Wdr74	A	G	19: 8,716,875 (GRCm39)		probably benign	Het

Other mutations in Baz1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Baz1b	APN	5	135,245,444 (GRCm39)	missense	probably damaging	0.99
IGL00589:Baz1b	APN	5	135,225,346 (GRCm39)	missense	possibly damaging	0.50
IGL00736:Baz1b	APN	5	135,268,886 (GRCm39)	missense	probably damaging	1.00
IGL02053:Baz1b	APN	5	135,271,320 (GRCm39)	missense	probably benign	0.00
IGL02197:Baz1b	APN	5	135,237,951 (GRCm39)	missense	probably benign	0.20
IGL02236:Baz1b	APN	5	135,246,138 (GRCm39)	missense	probably damaging	1.00
IGL02351:Baz1b	APN	5	135,273,160 (GRCm39)	missense	probably damaging	1.00
IGL02358:Baz1b	APN	5	135,273,160 (GRCm39)	missense	probably damaging	1.00
IGL02424:Baz1b	APN	5	135,246,833 (GRCm39)	missense	probably damaging	1.00
PIT4480001:Baz1b	UTSW	5	135,246,819 (GRCm39)	missense	probably damaging	1.00
R0097:Baz1b	UTSW	5	135,227,113 (GRCm39)	missense	probably benign	0.11
R0097:Baz1b	UTSW	5	135,227,113 (GRCm39)	missense	probably benign	0.11
R0365:Baz1b	UTSW	5	135,268,985 (GRCm39)	missense	probably benign	0.00
R0655:Baz1b	UTSW	5	135,271,284 (GRCm39)	missense	probably benign	0.00
R0698:Baz1b	UTSW	5	135,227,075 (GRCm39)	missense	probably damaging	1.00
R0959:Baz1b	UTSW	5	135,273,076 (GRCm39)	missense	probably damaging	1.00
R1411:Baz1b	UTSW	5	135,259,177 (GRCm39)	missense	possibly damaging	0.73
R1469:Baz1b	UTSW	5	135,246,833 (GRCm39)	missense	probably damaging	1.00
R1469:Baz1b	UTSW	5	135,246,833 (GRCm39)	missense	probably damaging	1.00
R1511:Baz1b	UTSW	5	135,246,636 (GRCm39)	missense	probably damaging	1.00
R1557:Baz1b	UTSW	5	135,247,097 (GRCm39)	missense	possibly damaging	0.94
R1674:Baz1b	UTSW	5	135,233,965 (GRCm39)	missense	probably damaging	1.00
R1760:Baz1b	UTSW	5	135,271,378 (GRCm39)	missense	probably benign
R1951:Baz1b	UTSW	5	135,245,593 (GRCm39)	missense	probably benign	0.11
R2058:Baz1b	UTSW	5	135,246,079 (GRCm39)	missense	probably benign	0.02
R2060:Baz1b	UTSW	5	135,233,968 (GRCm39)	missense	probably damaging	1.00
R2142:Baz1b	UTSW	5	135,246,129 (GRCm39)	missense	probably damaging	1.00
R2496:Baz1b	UTSW	5	135,239,629 (GRCm39)	missense	probably damaging	1.00
R4088:Baz1b	UTSW	5	135,245,794 (GRCm39)	missense	probably damaging	0.96
R4397:Baz1b	UTSW	5	135,273,300 (GRCm39)	missense	probably damaging	1.00
R4784:Baz1b	UTSW	5	135,246,267 (GRCm39)	missense	possibly damaging	0.51
R4785:Baz1b	UTSW	5	135,246,267 (GRCm39)	missense	possibly damaging	0.51
R5386:Baz1b	UTSW	5	135,266,913 (GRCm39)	missense	probably damaging	1.00
R5653:Baz1b	UTSW	5	135,237,951 (GRCm39)	missense	probably benign	0.20
R5808:Baz1b	UTSW	5	135,250,812 (GRCm39)	missense	probably benign	0.00
R6010:Baz1b	UTSW	5	135,246,305 (GRCm39)	missense	possibly damaging	0.82
R6014:Baz1b	UTSW	5	135,246,248 (GRCm39)	missense	probably damaging	1.00
R6173:Baz1b	UTSW	5	135,271,361 (GRCm39)	missense	probably benign
R6194:Baz1b	UTSW	5	135,272,744 (GRCm39)	missense	probably damaging	0.99
R6419:Baz1b	UTSW	5	135,271,348 (GRCm39)	missense	probably benign
R6435:Baz1b	UTSW	5	135,266,799 (GRCm39)	missense	probably damaging	1.00
R7078:Baz1b	UTSW	5	135,246,293 (GRCm39)	missense	probably benign	0.04
R7341:Baz1b	UTSW	5	135,251,970 (GRCm39)	missense	probably damaging	1.00
R7683:Baz1b	UTSW	5	135,246,582 (GRCm39)	missense	probably damaging	0.97
R7922:Baz1b	UTSW	5	135,260,533 (GRCm39)	missense	probably damaging	0.99
R8188:Baz1b	UTSW	5	135,233,916 (GRCm39)	missense	probably benign	0.12
R8429:Baz1b	UTSW	5	135,246,185 (GRCm39)	missense	probably benign	0.01
R8436:Baz1b	UTSW	5	135,266,821 (GRCm39)	missense	probably damaging	1.00
R8489:Baz1b	UTSW	5	135,245,709 (GRCm39)	missense	probably damaging	1.00
R8688:Baz1b	UTSW	5	135,271,343 (GRCm39)	missense	probably benign	0.01
R8771:Baz1b	UTSW	5	135,273,151 (GRCm39)	missense	probably benign	0.19
R8832:Baz1b	UTSW	5	135,246,230 (GRCm39)	missense	possibly damaging	0.95
R9086:Baz1b	UTSW	5	135,260,538 (GRCm39)	missense	probably damaging	1.00
R9192:Baz1b	UTSW	5	135,239,648 (GRCm39)	missense	possibly damaging	0.93
R9340:Baz1b	UTSW	5	135,246,729 (GRCm39)	missense	probably benign	0.09
R9356:Baz1b	UTSW	5	135,239,653 (GRCm39)	missense	probably benign	0.08
R9448:Baz1b	UTSW	5	135,239,656 (GRCm39)	missense	probably damaging	1.00
R9507:Baz1b	UTSW	5	135,233,971 (GRCm39)	missense	probably damaging	1.00
R9559:Baz1b	UTSW	5	135,216,532 (GRCm39)	missense	probably benign	0.05
R9651:Baz1b	UTSW	5	135,252,022 (GRCm39)	missense	probably benign
R9694:Baz1b	UTSW	5	135,273,094 (GRCm39)	missense	probably benign	0.00
X0027:Baz1b	UTSW	5	135,245,746 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02