Mutagenetix > Incidental Mutation

Incidental Mutation 'R0855:Baz1a'

82697

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

039034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54939774-55061133 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 54947348 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 benign
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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (35/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	A	G	18: 62,886,414 (GRCm39)		noncoding transcript	Het
Ak3	T	C	19: 29,000,345 (GRCm39)	K189E	probably benign	Het
Anks3	A	T	16: 4,773,811 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,961,761 (GRCm39)	H2378N	possibly damaging	Het
Bicra	A	G	7: 15,705,929 (GRCm39)	F1504S	probably damaging	Het
Blzf1	T	C	1: 164,119,950 (GRCm39)	T353A	possibly damaging	Het
Btn1a1	C	A	13: 23,648,489 (GRCm39)	V115F	probably damaging	Het
Cd38	T	A	5: 44,060,927 (GRCm39)		probably null	Het
Cep250	T	C	2: 155,806,031 (GRCm39)	C109R	probably damaging	Het
Cnksr1	C	T	4: 133,960,377 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,273,724 (GRCm39)	N3048I	probably benign	Het
Impdh1	T	A	6: 29,206,971 (GRCm39)	H116L	probably damaging	Het
Kank4	C	A	4: 98,659,681 (GRCm39)	W799L	probably damaging	Het
Kcnk7	C	T	19: 5,756,103 (GRCm39)	H110Y	probably benign	Het
Mak	T	C	13: 41,223,640 (GRCm39)	E25G	probably damaging	Het
Mrpl54	G	A	10: 81,102,759 (GRCm39)		probably benign	Het
Myh10	A	C	11: 68,702,627 (GRCm39)	D1767A	possibly damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Ndufaf6	A	T	4: 11,051,169 (GRCm39)	H310Q	probably damaging	Het
Osbpl6	G	T	2: 76,415,477 (GRCm39)	G467V	probably damaging	Het
Osbpl6	A	G	2: 76,422,183 (GRCm39)	E673G	probably damaging	Het
Picalm	T	A	7: 89,840,356 (GRCm39)	D458E	possibly damaging	Het
Ppp2ca	G	A	11: 52,012,752 (GRCm39)	R294H	probably benign	Het
Prdm14	T	A	1: 13,195,761 (GRCm39)	N100I	probably benign	Het
Rbbp6	A	G	7: 122,591,471 (GRCm39)	T510A	probably benign	Het
Sars1	C	A	3: 108,334,248 (GRCm39)	E503D	probably benign	Het
Smtn	T	C	11: 3,471,880 (GRCm39)	D853G	probably damaging	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Thada	T	C	17: 84,744,083 (GRCm39)	T742A	probably damaging	Het
Tmem63a	T	C	1: 180,788,625 (GRCm39)	S321P	possibly damaging	Het
Trim24	T	A	6: 37,892,137 (GRCm39)	C223*	probably null	Het
Usp48	T	C	4: 137,335,465 (GRCm39)	F213L	probably damaging	Het
Vmn2r109	A	T	17: 20,761,670 (GRCm39)	Y562*	probably null	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
R0393:Baz1a	UTSW	12	54,965,221 (GRCm39)	critical splice donor site	probably null
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
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'- ACAGCACCATGTTTTCAGCATCCC -3'
(R):5'- AATACAGCTCAGCAGACACGTTCTC -3'

Sequencing Primer
(F):5'- CCCTTTTTCCGGCAGATCTTG -3'
(R):5'- gatgcctcgccttagcc -3'

Posted On

2013-11-08