Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:Baz1a'

425768

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

042954-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5379 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

54939774-55061133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54941133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1539 (D1539A)

Ref Sequence

ENSEMBL: ENSMUSP00000133478 (fasta)

Gene Model

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

AlphaFold

O88379

Predicted Effect

probably damaging
Transcript: ENSMUST00000038926
AA Change: D1542A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: D1542A

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 damaging
Transcript: ENSMUST00000173433
AA Change: D1539A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: D1539A

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

noncoding transcript
Transcript: ENSMUST00000173453

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
B4galt6	T	C	18: 20,822,296 (GRCm39)	D294G	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Fndc5	A	T	4: 129,035,887 (GRCm39)	I175F	probably damaging	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Or8d1b	T	C	9: 38,887,151 (GRCm39)	Y60H	possibly damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Pramel25	A	G	4: 143,521,493 (GRCm39)	I370V	probably benign	Het
Proca1	C	A	11: 78,096,092 (GRCm39)	S154R	probably damaging	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	probably damaging	Het
Zfp454	T	C	11: 50,774,629 (GRCm39)	T15A	probably damaging	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
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
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'- TATAGTGCAGGCCACACTTGC -3'
(R):5'- GGGTCTCCAAACCTTTATAAGTGAAC -3'

Sequencing Primer
(F):5'- ACACTTGCATGTGGTCAACC -3'
(R):5'- ACCTTTATAAGTGAACAGCTTTAAGC -3'

Posted On

2016-08-04