Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Baz1b'

648435

Institutional Source

Beutler Lab

Gene Symbol

Baz1b

Ensembl Gene

ENSMUSG00000002748

Gene Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

Wbscr9, WSTF

MMRRC Submission

045969-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7922 (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 135260533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1110 (Q1110L)

Ref Sequence

ENSEMBL: ENSMUSP00000002825 (fasta)

Gene Model

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

AlphaFold

Q9Z277

Predicted Effect

probably damaging
Transcript: ENSMUST00000002825
AA Change: Q1110L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: Q1110L

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: 98.9%

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
2700049A03Rik	C	T	12: 71,211,180 (GRCm39)	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 69,083,067 (GRCm39)		probably null	Het
Abi3	A	T	11: 95,723,619 (GRCm39)	Y342N	unknown	Het
Adk	G	A	14: 21,368,111 (GRCm39)	V195I	probably benign	Het
Ago2	C	T	15: 72,998,375 (GRCm39)	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,835,615 (GRCm39)	I1077V	probably benign	Het
Arap1	A	T	7: 101,053,621 (GRCm39)	K1317*	probably null	Het
Auts2	T	A	5: 131,469,211 (GRCm39)	D493V		Het
Brsk2	T	A	7: 141,546,957 (GRCm39)	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,493,858 (GRCm39)	M511K	probably benign	Het
Cdh23	T	A	10: 60,218,485 (GRCm39)	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,380,962 (GRCm39)	L427V	unknown	Het
Cnga1	A	G	5: 72,762,225 (GRCm39)	F430L	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,562 (GRCm39)	L254F	probably damaging	Het
Dnhd1	A	T	7: 105,317,721 (GRCm39)	D472V	probably damaging	Het
Dock2	T	A	11: 34,598,154 (GRCm39)	E339V	probably benign	Het
Eif3a	A	T	19: 60,764,280 (GRCm39)	V379E	probably damaging	Het
Erich4	T	A	7: 25,315,168 (GRCm39)	N36Y	probably damaging	Het
Frem2	T	C	3: 53,560,725 (GRCm39)	T1261A	probably damaging	Het
Fzd6	A	T	15: 38,894,503 (GRCm39)	D223V	probably damaging	Het
Gabra2	A	T	5: 71,165,315 (GRCm39)	Y218*	probably null	Het
Gcn1	G	T	5: 115,752,527 (GRCm39)	M2177I	probably benign	Het
Ghr	G	A	15: 3,370,556 (GRCm39)	T103I	possibly damaging	Het
Gipc1	T	C	8: 84,387,857 (GRCm39)	V79A	probably benign	Het
Gm13272	T	A	4: 88,698,577 (GRCm39)	V164D	probably damaging	Het
Gramd4	C	A	15: 86,016,159 (GRCm39)	H503Q	probably benign	Het
Gstm4	A	T	3: 107,951,987 (GRCm39)	M1K	probably null	Het
Heatr5b	T	A	17: 79,067,988 (GRCm39)	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,836,978 (GRCm39)	K826*	probably null	Het
Hoxa9	T	C	6: 52,201,289 (GRCm39)	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,679,177 (GRCm39)	I46F	possibly damaging	Het
Ints2	T	A	11: 86,135,453 (GRCm39)	R320S	probably benign	Het
Iscu	A	T	5: 113,912,343 (GRCm39)	N46I	probably damaging	Het
Iscu	G	A	5: 113,912,410 (GRCm39)	R60Q	unknown	Het
Kcnk3	A	T	5: 30,745,875 (GRCm39)	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,754,157 (GRCm39)	S1228R	unknown	Het
Mbl2	T	A	19: 30,216,638 (GRCm39)	L150Q	probably damaging	Het
Med13	A	T	11: 86,161,831 (GRCm39)	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,229,275 (GRCm39)	L246*	probably null	Het
Muc16	T	C	9: 18,496,121 (GRCm39)	Q6690R	probably benign	Het
Myh10	T	A	11: 68,699,719 (GRCm39)	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,218,454 (GRCm39)	M237V	probably benign	Het
Olfml1	A	G	7: 107,170,356 (GRCm39)	Y81C	probably damaging	Het
Or4q3	A	G	14: 50,583,872 (GRCm39)	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,849,226 (GRCm39)	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,897,002 (GRCm39)	F691L	probably benign	Het
Pik3c2a	A	G	7: 115,990,517 (GRCm39)	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,424,701 (GRCm39)	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,799,013 (GRCm39)	H2250Y		Het
Pkd1l1	A	G	11: 8,859,857 (GRCm39)	S1034P		Het
Plcd1	C	A	9: 118,903,720 (GRCm39)	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 21,174,879 (GRCm39)	T58A	probably benign	Het
Ppp5c	T	C	7: 16,761,725 (GRCm39)	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,424,950 (GRCm39)	F82L	probably benign	Het
Prkag3	A	T	1: 74,780,416 (GRCm39)	S416R	probably benign	Het
Rab3gap2	T	C	1: 184,982,117 (GRCm39)	C390R	probably benign	Het
Rhot1	A	G	11: 80,156,629 (GRCm39)	T655A	probably benign	Het
Rorc	A	G	3: 94,298,495 (GRCm39)	I348V	probably damaging	Het
Ryr1	A	T	7: 28,796,649 (GRCm39)	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,478,626 (GRCm39)		probably null	Het
Serpinb3c	G	A	1: 107,199,744 (GRCm39)	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,326,438 (GRCm39)	M70K	probably damaging	Het
Sinhcaf	T	A	6: 148,827,644 (GRCm39)	T125S	probably benign	Het
Slc7a4	C	T	16: 17,391,230 (GRCm39)	V607I	probably benign	Het
Spop	A	T	11: 95,362,154 (GRCm39)	N62Y	probably damaging	Het
Spout1	A	G	2: 30,066,823 (GRCm39)	F130S	probably benign	Het
Tab1	A	G	15: 80,043,066 (GRCm39)	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,899,076 (GRCm39)		probably null	Het
Tnxb	G	C	17: 34,933,577 (GRCm39)	K2332N	probably damaging	Het
Togaram1	T	C	12: 65,014,512 (GRCm39)	Y588H	probably damaging	Het
Trim71	G	A	9: 114,342,153 (GRCm39)	R710C	probably damaging	Het
Tsen54	C	T	11: 115,711,608 (GRCm39)	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812 (GRCm39)	N235K	unknown	Het
Utrn	C	A	10: 12,543,271 (GRCm39)	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 20,867,587 (GRCm39)	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 19,901,636 (GRCm39)	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,831,683 (GRCm39)	R369W	probably damaging	Het
Vwa7	G	T	17: 35,243,409 (GRCm39)	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,159,647 (GRCm39)	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,874 (GRCm39)	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,600,511 (GRCm39)	V415D	possibly damaging	Het
Zfp553	A	G	7: 126,835,768 (GRCm39)	H441R	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
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
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'- AGAAGTCAGGTGCTGTTAGATCC -3'
(R):5'- ACAGCTCAACTACAGGCAGTG -3'

Sequencing Primer
(F):5'- CCCTAGTTATTATGGAAGGCACGC -3'
(R):5'- AACTACAGGCAGTGGCTCTACTTC -3'

Posted On

2020-09-15