Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Baz1b'

168300

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

WSTF, Wbscr9

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135187264-135246129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135217782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 695 (L695P)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9Z277

Predicted Effect

probably damaging
Transcript: ENSMUST00000002825
AA Change: L695P

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

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: L695P

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: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801		probably benign	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	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
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
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'- TGGCAGAAACCTCCCAGCATTCAG -3'
(R):5'- CATTCTCCTCCTTCAGCACAGCAAG -3'

Sequencing Primer
(F):5'- CCAGCATTCAGGCTGGTAGATAC -3'
(R):5'- CTTGCACAGAGTATGTCATGAG -3'

Posted On

2014-04-13