Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Baz1b'

569851

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

Wbscr9, WSTF

MMRRC Submission

045431-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135216118-135274983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135251970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 923 (L923I)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9Z277

Predicted Effect

probably damaging
Transcript: ENSMUST00000002825
AA Change: L923I

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

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: L923I

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

Meta Mutation Damage Score

0.1868

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam3	T	A	8: 25,177,996 (GRCm39)	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,206,082 (GRCm39)	C756S	probably damaging	Het
Arhgap31	C	T	16: 38,532,876 (GRCm39)		probably null	Het
Ascl4	G	A	10: 85,764,529 (GRCm39)	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,889,066 (GRCm39)	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330 (GRCm39)	D206G	possibly damaging	Het
Birc6	T	A	17: 74,919,069 (GRCm39)	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,946,200 (GRCm39)	N3025S	probably benign	Het
Bub1b	C	A	2: 118,467,267 (GRCm39)	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,554,411 (GRCm39)	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644 (GRCm39)	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,014,552 (GRCm39)	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,837,610 (GRCm39)	N437K	probably benign	Het
Cdhr2	T	A	13: 54,867,305 (GRCm39)	L408Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chd1	T	C	17: 15,990,499 (GRCm39)	S1684P	probably damaging	Het
CN725425	A	G	15: 91,126,873 (GRCm39)	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,448,678 (GRCm39)	V66A	probably damaging	Het
Cpd	C	A	11: 76,737,779 (GRCm39)	R5L	unknown	Het
Cpeb4	C	T	11: 31,868,807 (GRCm39)	T422I	possibly damaging	Het
Cspg4b	G	T	13: 113,454,706 (GRCm39)	G251C		Het
Cyp1a1	G	T	9: 57,608,107 (GRCm39)	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,705,928 (GRCm39)	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,774,787 (GRCm39)	F122L	probably benign	Het
Drc1	T	A	5: 30,521,812 (GRCm39)	L728Q	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Ecpas	A	T	4: 58,809,415 (GRCm39)	V1653D	possibly damaging	Het
Ermp1	T	A	19: 29,623,654 (GRCm39)	H112L	probably benign	Het
Exoc8	T	C	8: 125,623,320 (GRCm39)	D349G	probably damaging	Het
Fam151a	T	A	4: 106,592,707 (GRCm39)	M63K	probably benign	Het
Fmo9	C	A	1: 166,504,115 (GRCm39)	G149V	probably damaging	Het
Fndc8	A	G	11: 82,789,603 (GRCm39)	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,937,862 (GRCm39)	V365I	probably benign	Het
Frem2	C	T	3: 53,561,916 (GRCm39)	G864S	probably damaging	Het
Fstl5	T	A	3: 76,389,704 (GRCm39)		probably null	Het
Garnl3	T	A	2: 32,924,141 (GRCm39)	E247V	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gorasp1	T	A	9: 119,766,600 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,541 (GRCm39)	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,190,395 (GRCm39)	M131I	probably damaging	Het
Kif13a	A	G	13: 46,980,221 (GRCm39)	V177A	probably damaging	Het
Limch1	C	T	5: 67,191,545 (GRCm39)	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Lmo7	A	G	14: 102,122,948 (GRCm39)	N379S	probably benign	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,598,711 (GRCm39)	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,755,133 (GRCm39)	Y303H	probably damaging	Het
Mecr	T	G	4: 131,570,986 (GRCm39)	V58G	probably null	Het
Med12l	T	A	3: 58,949,824 (GRCm39)	D193E	possibly damaging	Het
Moap1	T	C	12: 102,709,438 (GRCm39)	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Ndufs5	A	T	4: 123,609,744 (GRCm39)	C43*	probably null	Het
Oaz2	A	T	9: 65,596,183 (GRCm39)	D83V		Het
Or2t29	A	T	11: 58,433,533 (GRCm39)	Y269*	probably null	Het
Or5ac22	T	A	16: 59,135,512 (GRCm39)	N86I	possibly damaging	Het
Palm	A	G	10: 79,652,697 (GRCm39)	T191A	probably damaging	Het
Pclo	C	A	5: 14,725,850 (GRCm39)	D1569E	unknown	Het
Ppid	T	A	3: 79,507,604 (GRCm39)	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,749 (GRCm39)	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,321,619 (GRCm39)	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,161,827 (GRCm39)	T68A	probably benign	Het
Rbm15b	C	T	9: 106,762,246 (GRCm39)	G641R	probably benign	Het
Rgsl1	A	G	1: 153,669,591 (GRCm39)	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837 (GRCm39)	Y98*	probably null	Het
Sfxn3	T	G	19: 45,037,701 (GRCm39)	N52K	probably benign	Het
Slc17a3	G	T	13: 24,030,867 (GRCm39)	G182*	probably null	Het
Slc29a3	A	T	10: 60,586,437 (GRCm39)	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,693,278 (GRCm39)	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,800,435 (GRCm39)	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,259,273 (GRCm39)	S626T	probably benign	Het
Sp5	T	A	2: 70,307,041 (GRCm39)	L242*	probably null	Het
Spata25	C	G	2: 164,669,582 (GRCm39)	G143A	probably damaging	Het
Spata6	T	A	4: 111,625,935 (GRCm39)	Y101*	probably null	Het
Tdp2	T	G	13: 25,016,059 (GRCm39)	S89A	probably benign	Het
Tlr6	T	C	5: 65,110,972 (GRCm39)	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,794 (GRCm39)	I355V	probably benign	Het
Trappc8	A	T	18: 20,985,704 (GRCm39)	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,657,205 (GRCm39)	N399S	probably damaging	Het
Ube4b	A	G	4: 149,427,458 (GRCm39)	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,315,759 (GRCm39)		probably null	Het
Vmn2r1	T	C	3: 64,012,877 (GRCm39)	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,234,113 (GRCm39)	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,811 (GRCm39)	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,953,725 (GRCm39)	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,868,395 (GRCm39)	M442K	possibly damaging	Het
Ydjc	T	C	16: 16,968,762 (GRCm39)	C234R	probably benign	Het
Zfp87	A	G	13: 74,520,467 (GRCm39)	Y204H	possibly 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
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
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'- TCAAATTGTGAGGAAGGCACTG -3'
(R):5'- CTGGAGCAGACACCATACTC -3'

Sequencing Primer
(F):5'- AAGGCACTGTCAGCTGTG -3'
(R):5'- CATACTCAAAGCAGTGGTTCTC -3'

Posted On

2019-09-13