Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Baz1b'

192687

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

Wbscr9, WSTF

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135216118-135274983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 135271378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1320 (D1320E)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9Z277

Predicted Effect

probably benign
Transcript: ENSMUST00000002825
AA Change: D1320E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: D1320E

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: ENSMUST00000136947

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Clpb	T	A	7: 101,435,905 (GRCm39)	V578E	possibly damaging	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6c65	T	A	10: 129,603,417 (GRCm39)	D17E	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,142,185 (GRCm39)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Tmem94	A	T	11: 115,687,580 (GRCm39)	K1146N	probably damaging	Het
Trdn	A	G	10: 33,109,883 (GRCm39)	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,654,388 (GRCm39)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	probably damaging	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
IGL03051:Baz1b	APN	5	135,246,079 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACTCCTGCAAAGACCTTGTCC -3'
(R):5'- TAGTCTGCCCAGAGCCTATCCATC -3'

Sequencing Primer
(F):5'- ACCTTGTCCTGAATATAGCTGAACC -3'
(R):5'- CCCCATTGTGGACTAGAACAT -3'

Posted On

2014-05-23