Mutagenetix > Incidental Mutation

Incidental Mutation 'R9651:Baz1b'

727096

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

Wbscr9, WSTF

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135216118-135274983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135252022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 940 (H940L)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9Z277

Predicted Effect

probably benign
Transcript: ENSMUST00000002825
AA Change: H940L

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

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: H940L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 106,436,604 (GRCm39)	S267P		Het
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abca13	A	G	11: 9,535,484 (GRCm39)	S4703G	probably benign	Het
Abca9	A	T	11: 110,006,319 (GRCm39)	M1262K	probably benign	Het
Acta1	A	T	8: 124,619,431 (GRCm39)	Y220*	probably null	Het
Actr6	A	G	10: 89,564,877 (GRCm39)	V24A	probably damaging	Het
Adam30	T	C	3: 98,069,936 (GRCm39)	Y590H	possibly damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Ankle2	A	G	5: 110,385,661 (GRCm39)	I337V	probably benign	Het
Arid2	T	C	15: 96,256,822 (GRCm39)	V220A	probably benign	Het
Atp8b2	T	C	3: 89,865,603 (GRCm39)	D99G	probably damaging	Het
Cacna1d	C	T	14: 29,764,881 (GRCm39)	V2017I	probably benign	Het
Ccn1	G	T	3: 145,354,583 (GRCm39)	N109K	probably damaging	Het
Cd226	T	A	18: 89,265,395 (GRCm39)	C224*	probably null	Het
Cdrt4	T	A	11: 62,883,466 (GRCm39)	I56N	possibly damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cryz	A	G	3: 154,327,765 (GRCm39)	Q289R	probably benign	Het
Csn1s2b	T	A	5: 87,968,820 (GRCm39)	M94K	probably benign	Het
Ctnnd1	T	C	2: 84,439,899 (GRCm39)	K804E	possibly damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dffa	A	G	4: 149,190,674 (GRCm39)	T68A	probably damaging	Het
Dnah2	C	T	11: 69,341,824 (GRCm39)		probably null	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Epn3	C	T	11: 94,383,687 (GRCm39)		probably null	Het
Fem1c	A	T	18: 46,657,674 (GRCm39)	D13E		Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fpr2	T	A	17: 18,113,484 (GRCm39)	I160N	probably benign	Het
Gabra1	A	G	11: 42,045,853 (GRCm39)	Y86H	probably damaging	Het
Gabrb3	T	C	7: 57,415,202 (GRCm39)	Y91H	probably damaging	Het
Gcn1	T	C	5: 115,747,665 (GRCm39)		probably null	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gpr152	T	G	19: 4,192,614 (GRCm39)	W52G	probably damaging	Het
Hsd17b12	A	G	2: 93,988,081 (GRCm39)	V45A	probably benign	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Il16	T	A	7: 83,332,064 (GRCm39)	N172I	probably damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Lama1	T	C	17: 68,101,215 (GRCm39)	S1903P		Het
Llgl2	A	T	11: 115,742,941 (GRCm39)		probably null	Het
Mical1	A	T	10: 41,362,022 (GRCm39)		probably null	Het
Muc2	C	T	7: 141,288,014 (GRCm39)	P262S	probably damaging	Het
Myo9a	A	G	9: 59,778,764 (GRCm39)	R1507G	probably damaging	Het
Ndst1	G	A	18: 60,833,539 (GRCm39)	H491Y	probably damaging	Het
Nfasc	T	C	1: 132,527,791 (GRCm39)	T872A	probably benign	Het
Nipal3	A	T	4: 135,174,634 (GRCm39)	C372*	probably null	Het
Nmrk1	A	G	19: 18,616,929 (GRCm39)	H26R	probably benign	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Or2m12	C	T	16: 19,105,489 (GRCm39)	M1I	probably null	Het
Or51d1	T	A	7: 102,347,832 (GRCm39)	M129K	probably damaging	Het
Or5au1	T	C	14: 52,273,205 (GRCm39)	D121G	probably damaging	Het
Or5b102	T	G	19: 13,041,256 (GRCm39)	D160E	probably benign	Het
P2ry12	T	C	3: 59,134,931 (GRCm39)		probably benign	Het
Pax8	T	A	2: 24,331,173 (GRCm39)	D174V	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pnpla7	T	C	2: 24,892,931 (GRCm39)	S451P	probably benign	Het
Polm	A	G	11: 5,781,732 (GRCm39)	Y255H	probably damaging	Het
Polr1has	C	T	17: 37,276,353 (GRCm39)	Q242*	probably null	Het
Rdh14	T	A	12: 10,441,118 (GRCm39)	C93*	probably null	Het
Rnf213	C	A	11: 119,331,238 (GRCm39)	S2150Y		Het
Rpap1	G	A	2: 119,598,484 (GRCm39)	P1111L	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Sbp	A	G	17: 24,164,419 (GRCm39)	*200W	probably null	Het
Scn10a	A	G	9: 119,439,063 (GRCm39)	M1601T	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc4a1	A	T	11: 102,242,256 (GRCm39)	I821N	probably damaging	Het
Spaca6	T	A	17: 18,057,829 (GRCm39)	D164E	probably benign	Het
Synj1	T	C	16: 90,735,412 (GRCm39)	T1514A	probably benign	Het
Synj1	C	T	16: 90,757,343 (GRCm39)	V902I	possibly damaging	Het
Tctn1	A	G	5: 122,384,576 (GRCm39)	Y443H	probably benign	Het
Thoc5	C	T	11: 4,849,883 (GRCm39)	R25W	possibly damaging	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Trim45	C	T	3: 100,832,705 (GRCm39)	Q313*	probably null	Het
Ubqlnl	T	C	7: 103,799,122 (GRCm39)	D125G	possibly damaging	Het
Ubr4	A	T	4: 139,206,859 (GRCm39)	E4926V	unknown	Het
Usp5	T	C	6: 124,799,501 (GRCm39)	D349G	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,306 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,344,167 (GRCm39)	Q2136R	possibly damaging	Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp712	A	G	13: 67,188,824 (GRCm39)	S568P	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
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
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
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'- TAGCAGTAAAGTGATCCAGCCG -3'
(R):5'- CTGGAGCAGACACCATACTC -3'

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

Posted On

2022-10-06