Mutagenetix > Incidental Mutation

Incidental Mutation 'R0393:Baz1a'

31809

Institutional Source

Beutler Lab

Gene Symbol

Baz1a

Ensembl Gene

ENSMUSG00000035021

Gene Name

bromodomain adjacent to zinc finger domain 1A

Synonyms

Gtl5, Wcrf180, Acf1

MMRRC Submission

038599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54939774-55061133 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 54965221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]

AlphaFold

O88379

Predicted Effect

probably null
Transcript: ENSMUST00000038926

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021

Domain	Start	End	E-Value	Type
Pfam:WAC_Acf1_DNA_bd	23	122	4.4e-36	PFAM
low complexity region	164	175	N/A	INTRINSIC
coiled coil region	312	397	N/A	INTRINSIC
Pfam:DDT	423	485	2.3e-14	PFAM
low complexity region	519	530	N/A	INTRINSIC
Pfam:WHIM1	593	641	1.5e-8	PFAM
low complexity region	658	696	N/A	INTRINSIC
low complexity region	725	738	N/A	INTRINSIC
low complexity region	774	796	N/A	INTRINSIC
low complexity region	861	873	N/A	INTRINSIC
Pfam:WHIM3	894	932	2e-16	PFAM
low complexity region	1058	1073	N/A	INTRINSIC
PHD	1151	1197	9.46e-15	SMART
RING	1152	1196	6.88e-1	SMART
low complexity region	1214	1257	N/A	INTRINSIC
BROMO	1426	1534	2.18e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000173433

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021

Domain	Start	End	E-Value	Type
Pfam:WAC_Acf1_DNA_bd	22	122	1.1e-37	PFAM
low complexity region	164	175	N/A	INTRINSIC
coiled coil region	312	397	N/A	INTRINSIC
DDT	422	487	1.54e-19	SMART
low complexity region	518	529	N/A	INTRINSIC
Pfam:WHIM1	592	640	1.8e-8	PFAM
low complexity region	657	695	N/A	INTRINSIC
low complexity region	722	735	N/A	INTRINSIC
low complexity region	771	793	N/A	INTRINSIC
low complexity region	858	870	N/A	INTRINSIC
low complexity region	1055	1070	N/A	INTRINSIC
PHD	1148	1194	9.46e-15	SMART
RING	1149	1193	6.88e-1	SMART
low complexity region	1211	1254	N/A	INTRINSIC
BROMO	1423	1531	2.18e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174225

SMART Domains

Protein: ENSMUSP00000133324
Gene: ENSMUSG00000035021

Domain	Start	End	E-Value	Type
Pfam:DDT	45	78	8.8e-10	PFAM

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,591,604 (GRCm39)		probably benign	Het
Akr1b7	T	G	6: 34,392,335 (GRCm39)	Y49*	probably null	Het
Ankrd10	G	T	8: 11,685,482 (GRCm39)	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,085,681 (GRCm39)		probably benign	Het
Bicd2	C	T	13: 49,533,346 (GRCm39)	T644M	probably damaging	Het
Ccr9	A	T	9: 123,609,035 (GRCm39)	H239L	probably benign	Het
Cd180	A	T	13: 102,842,408 (GRCm39)	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,919,400 (GRCm39)	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,162,076 (GRCm39)	S116R	probably benign	Het
Crym	T	C	7: 119,788,972 (GRCm39)	K285R	probably benign	Het
Cyp2a4	A	T	7: 26,012,293 (GRCm39)	I359F	possibly damaging	Het
Cyp2b10	T	A	7: 25,614,359 (GRCm39)		probably benign	Het
Dcpp3	A	T	17: 24,136,925 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,364 (GRCm39)	I1340K	probably benign	Het
Fbln1	T	C	15: 85,111,277 (GRCm39)	C144R	probably damaging	Het
Gm1553	T	C	10: 82,328,010 (GRCm39)	R66G	unknown	Het
Il10rb	G	A	16: 91,208,898 (GRCm39)	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,728,614 (GRCm39)	W182R	probably benign	Het
Kcna3	T	C	3: 106,944,315 (GRCm39)	S193P	probably damaging	Het
Kif14	C	T	1: 136,410,156 (GRCm39)	H628Y	probably damaging	Het
Krt31	A	G	11: 99,941,079 (GRCm39)	L77P	probably damaging	Het
Krt36	C	T	11: 99,994,940 (GRCm39)	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lmo7	A	G	14: 102,137,892 (GRCm39)	T743A	probably benign	Het
Lyst	C	T	13: 13,821,664 (GRCm39)	T1346M	probably benign	Het
Mapkbp1	T	A	2: 119,843,384 (GRCm39)		probably null	Het
Mif	T	C	10: 75,695,638 (GRCm39)	D55G	probably benign	Het
Mlh3	G	T	12: 85,314,361 (GRCm39)	C608*	probably null	Het
Mlip	A	T	9: 77,146,859 (GRCm39)	C85S	probably benign	Het
Mug1	T	C	6: 121,826,809 (GRCm39)	S211P	possibly damaging	Het
Mybl2	T	A	2: 162,903,528 (GRCm39)		probably benign	Het
Myh8	C	T	11: 67,196,843 (GRCm39)		probably benign	Het
Nanos1	A	G	19: 60,745,368 (GRCm39)	Y222C	probably damaging	Het
Or10ag52	A	T	2: 87,044,037 (GRCm39)	Y267F	probably benign	Het
Or2n1e	G	T	17: 38,585,774 (GRCm39)	M37I	probably benign	Het
Or5d16	T	C	2: 87,773,909 (GRCm39)	D21G	possibly damaging	Het
Papolb	A	G	5: 142,515,211 (GRCm39)	V144A	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Plod1	A	T	4: 148,003,298 (GRCm39)	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,802,122 (GRCm39)	M290I	probably benign	Het
Ralb	G	C	1: 119,405,856 (GRCm39)		probably null	Het
Rxylt1	T	C	10: 121,931,841 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,672,519 (GRCm39)	D18E	probably damaging	Het
Speg	A	C	1: 75,400,568 (GRCm39)	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,588,349 (GRCm39)	D241G	probably damaging	Het
Tcam1	T	A	11: 106,175,040 (GRCm39)	V165E	probably benign	Het
Thbs1	T	A	2: 117,943,472 (GRCm39)	V30E	possibly damaging	Het
Tll2	A	G	19: 41,077,265 (GRCm39)	Y834H	possibly damaging	Het
Trpm6	G	A	19: 18,756,008 (GRCm39)	D84N	probably damaging	Het
Ubr1	T	A	2: 120,737,427 (GRCm39)	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,138,171 (GRCm39)		probably benign	Het
Vmn1r74	T	C	7: 11,581,242 (GRCm39)	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,395 (GRCm39)	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,325,712 (GRCm39)	Y110F	probably damaging	Het
Zbtb40	A	C	4: 136,745,842 (GRCm39)	S64A	probably benign	Het
Zfp184	T	A	13: 22,131,252 (GRCm39)		probably benign	Het

Other mutations in Baz1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Baz1a	APN	12	54,963,516 (GRCm39)	missense	probably benign
IGL01138:Baz1a	APN	12	54,977,110 (GRCm39)	missense	probably damaging	1.00
IGL01298:Baz1a	APN	12	55,001,594 (GRCm39)	missense	probably damaging	1.00
IGL02639:Baz1a	APN	12	54,942,810 (GRCm39)	splice site	probably benign
IGL02995:Baz1a	APN	12	54,947,232 (GRCm39)	missense	probably damaging	1.00
IGL03001:Baz1a	APN	12	54,969,896 (GRCm39)	missense	possibly damaging	0.50
IGL03104:Baz1a	APN	12	54,941,743 (GRCm39)	missense	probably damaging	1.00
IGL03135:Baz1a	APN	12	54,976,375 (GRCm39)	missense	probably damaging	1.00
IGL03151:Baz1a	APN	12	54,955,934 (GRCm39)	critical splice acceptor site	probably null
IGL03235:Baz1a	APN	12	54,945,320 (GRCm39)	missense	probably damaging	1.00
IGL03240:Baz1a	APN	12	54,974,352 (GRCm39)	nonsense	probably null
Bezos	UTSW	12	54,941,816 (GRCm39)	nonsense	probably null
Flavia	UTSW	12	55,022,093 (GRCm39)	missense	probably damaging	1.00
gumdrops	UTSW	12	54,947,233 (GRCm39)	missense	probably damaging	1.00
Kilter	UTSW	12	54,947,317 (GRCm39)	missense	probably damaging	0.99
Kisses	UTSW	12	55,021,922 (GRCm39)	missense	probably damaging	1.00
liverlips	UTSW	12	54,967,928 (GRCm39)	missense	possibly damaging	0.68
smooch	UTSW	12	54,963,608 (GRCm39)	missense	probably damaging	1.00
Smootch	UTSW	12	54,958,170 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Baz1a	UTSW	12	54,977,095 (GRCm39)	missense	probably benign	0.03
R0127:Baz1a	UTSW	12	54,945,491 (GRCm39)	missense	possibly damaging	0.93
R0183:Baz1a	UTSW	12	54,958,172 (GRCm39)	missense	probably damaging	1.00
R0532:Baz1a	UTSW	12	54,981,605 (GRCm39)	missense	possibly damaging	0.55
R0614:Baz1a	UTSW	12	54,988,304 (GRCm39)	nonsense	probably null
R0626:Baz1a	UTSW	12	55,022,055 (GRCm39)	missense	probably damaging	0.99
R0654:Baz1a	UTSW	12	54,958,182 (GRCm39)	missense	probably benign	0.01
R0782:Baz1a	UTSW	12	54,941,273 (GRCm39)	missense	probably damaging	1.00
R0826:Baz1a	UTSW	12	54,977,097 (GRCm39)	nonsense	probably null
R0855:Baz1a	UTSW	12	54,947,348 (GRCm39)	splice site	probably benign
R0927:Baz1a	UTSW	12	54,941,773 (GRCm39)	missense	probably damaging	1.00
R0941:Baz1a	UTSW	12	54,945,216 (GRCm39)	missense	probably benign	0.00
R1079:Baz1a	UTSW	12	54,941,785 (GRCm39)	missense	possibly damaging	0.91
R1157:Baz1a	UTSW	12	54,976,349 (GRCm39)	missense	probably damaging	1.00
R1647:Baz1a	UTSW	12	55,021,983 (GRCm39)	missense	probably damaging	1.00
R1731:Baz1a	UTSW	12	54,965,330 (GRCm39)	missense	possibly damaging	0.83
R1739:Baz1a	UTSW	12	54,945,573 (GRCm39)	nonsense	probably null
R1762:Baz1a	UTSW	12	54,955,805 (GRCm39)	missense	probably damaging	1.00
R1770:Baz1a	UTSW	12	54,945,293 (GRCm39)	missense	probably damaging	1.00
R1968:Baz1a	UTSW	12	54,947,122 (GRCm39)	missense	possibly damaging	0.91
R2037:Baz1a	UTSW	12	54,976,431 (GRCm39)	missense	probably damaging	1.00
R2111:Baz1a	UTSW	12	54,958,170 (GRCm39)	missense	probably damaging	1.00
R2215:Baz1a	UTSW	12	55,022,154 (GRCm39)	nonsense	probably null
R2282:Baz1a	UTSW	12	54,963,597 (GRCm39)	nonsense	probably null
R2875:Baz1a	UTSW	12	54,969,904 (GRCm39)	missense	probably damaging	1.00
R2890:Baz1a	UTSW	12	54,945,302 (GRCm39)	missense	probably benign
R2971:Baz1a	UTSW	12	54,970,224 (GRCm39)	missense	probably damaging	1.00
R3404:Baz1a	UTSW	12	54,963,774 (GRCm39)	missense	probably benign	0.00
R3419:Baz1a	UTSW	12	54,993,684 (GRCm39)	missense	probably benign	0.05
R3699:Baz1a	UTSW	12	54,963,831 (GRCm39)	missense	probably benign	0.09
R3899:Baz1a	UTSW	12	54,981,589 (GRCm39)	missense	probably benign	0.01
R3927:Baz1a	UTSW	12	54,967,928 (GRCm39)	missense	possibly damaging	0.68
R4050:Baz1a	UTSW	12	54,976,404 (GRCm39)	missense	probably benign	0.00
R4072:Baz1a	UTSW	12	54,988,345 (GRCm39)	missense	probably benign	0.18
R4196:Baz1a	UTSW	12	54,958,200 (GRCm39)	missense	probably damaging	1.00
R4289:Baz1a	UTSW	12	54,947,233 (GRCm39)	missense	probably damaging	1.00
R4455:Baz1a	UTSW	12	54,958,153 (GRCm39)	missense	probably benign	0.26
R4583:Baz1a	UTSW	12	54,969,325 (GRCm39)	missense	probably damaging	0.99
R4622:Baz1a	UTSW	12	54,988,300 (GRCm39)	missense	probably benign	0.00
R4807:Baz1a	UTSW	12	54,945,267 (GRCm39)	missense	probably benign	0.28
R4998:Baz1a	UTSW	12	55,021,922 (GRCm39)	missense	probably damaging	1.00
R5239:Baz1a	UTSW	12	54,945,129 (GRCm39)	missense	probably damaging	0.99
R5379:Baz1a	UTSW	12	54,941,133 (GRCm39)	missense	probably damaging	1.00
R5408:Baz1a	UTSW	12	54,969,835 (GRCm39)	missense	probably damaging	1.00
R5678:Baz1a	UTSW	12	54,947,317 (GRCm39)	missense	probably damaging	0.99
R5810:Baz1a	UTSW	12	54,974,500 (GRCm39)	intron	probably benign
R6092:Baz1a	UTSW	12	54,955,868 (GRCm39)	missense	possibly damaging	0.88
R6317:Baz1a	UTSW	12	55,001,585 (GRCm39)	missense	possibly damaging	0.92
R6332:Baz1a	UTSW	12	54,965,339 (GRCm39)	missense	probably benign	0.01
R6803:Baz1a	UTSW	12	54,988,340 (GRCm39)	missense	probably null	0.99
R7185:Baz1a	UTSW	12	55,022,093 (GRCm39)	missense	probably damaging	1.00
R7248:Baz1a	UTSW	12	54,947,293 (GRCm39)	missense	probably damaging	1.00
R7392:Baz1a	UTSW	12	54,945,550 (GRCm39)	missense	probably damaging	1.00
R8009:Baz1a	UTSW	12	54,941,816 (GRCm39)	nonsense	probably null
R8025:Baz1a	UTSW	12	54,955,921 (GRCm39)	missense	probably benign	0.34
R8392:Baz1a	UTSW	12	54,969,908 (GRCm39)	missense	probably damaging	1.00
R8862:Baz1a	UTSW	12	55,032,624 (GRCm39)	unclassified	probably benign
R8949:Baz1a	UTSW	12	54,941,238 (GRCm39)	missense	probably damaging	1.00
R9340:Baz1a	UTSW	12	54,963,372 (GRCm39)	missense	probably damaging	0.97
R9389:Baz1a	UTSW	12	54,963,608 (GRCm39)	missense	probably damaging	1.00
R9401:Baz1a	UTSW	12	54,963,339 (GRCm39)	missense	probably damaging	1.00
R9666:Baz1a	UTSW	12	54,988,345 (GRCm39)	missense	probably benign	0.18
R9722:Baz1a	UTSW	12	54,946,882 (GRCm39)	missense	probably benign	0.43
R9746:Baz1a	UTSW	12	55,021,895 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAGTTGAAGTTAGGAGACACTGATG -3'
(R):5'- CCAAGCATGGTTTAACTCTGCCCC -3'

Sequencing Primer
(F):5'- tgggaggtagaggcaagag -3'
(R):5'- CTCACCCATACCTTGGATCAC -3'

Posted On

2013-04-24