Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Baz1a'

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301676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Baz1a

Ensembl Gene

ENSMUSG00000035021

Gene Name

bromodomain adjacent to zinc finger domain 1A

Synonyms

Wcrf180, Acf1, Gtl5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

54892989-55014348 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 54896025 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133478 (fasta)

Gene Model

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173453

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Baz1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Baz1a	APN	12	54916731	missense	probably benign
IGL01138:Baz1a	APN	12	54930325	missense	probably damaging	1.00
IGL01298:Baz1a	APN	12	54954809	missense	probably damaging	1.00
IGL02995:Baz1a	APN	12	54900447	missense	probably damaging	1.00
IGL03001:Baz1a	APN	12	54923111	missense	possibly damaging	0.50
IGL03104:Baz1a	APN	12	54894958	missense	probably damaging	1.00
IGL03135:Baz1a	APN	12	54929590	missense	probably damaging	1.00
IGL03151:Baz1a	APN	12	54909149	critical splice acceptor site	probably null
IGL03235:Baz1a	APN	12	54898535	missense	probably damaging	1.00
IGL03240:Baz1a	APN	12	54927567	nonsense	probably null
Bezos	UTSW	12	54895031	nonsense	probably null
Flavia	UTSW	12	54975308	missense	probably damaging	1.00
gumdrops	UTSW	12	54900448	missense	probably damaging	1.00
Kilter	UTSW	12	54900532	missense	probably damaging	0.99
Kisses	UTSW	12	54975137	missense	probably damaging	1.00
Smootch	UTSW	12	54911385	missense	probably damaging	1.00
PIT4458001:Baz1a	UTSW	12	54930310	missense	probably benign	0.03
R0127:Baz1a	UTSW	12	54898706	missense	possibly damaging	0.93
R0183:Baz1a	UTSW	12	54911387	missense	probably damaging	1.00
R0393:Baz1a	UTSW	12	54918436	critical splice donor site	probably null
R0532:Baz1a	UTSW	12	54934820	missense	possibly damaging	0.55
R0614:Baz1a	UTSW	12	54941519	nonsense	probably null
R0626:Baz1a	UTSW	12	54975270	missense	probably damaging	0.99
R0654:Baz1a	UTSW	12	54911397	missense	probably benign	0.01
R0782:Baz1a	UTSW	12	54894488	missense	probably damaging	1.00
R0826:Baz1a	UTSW	12	54930312	nonsense	probably null
R0855:Baz1a	UTSW	12	54900563	splice site	probably benign
R0927:Baz1a	UTSW	12	54894988	missense	probably damaging	1.00
R0941:Baz1a	UTSW	12	54898431	missense	probably benign	0.00
R1079:Baz1a	UTSW	12	54895000	missense	possibly damaging	0.91
R1157:Baz1a	UTSW	12	54929564	missense	probably damaging	1.00
R1647:Baz1a	UTSW	12	54975198	missense	probably damaging	1.00
R1731:Baz1a	UTSW	12	54918545	missense	possibly damaging	0.83
R1739:Baz1a	UTSW	12	54898788	nonsense	probably null
R1762:Baz1a	UTSW	12	54909020	missense	probably damaging	1.00
R1770:Baz1a	UTSW	12	54898508	missense	probably damaging	1.00
R1968:Baz1a	UTSW	12	54900337	missense	possibly damaging	0.91
R2037:Baz1a	UTSW	12	54929646	missense	probably damaging	1.00
R2111:Baz1a	UTSW	12	54911385	missense	probably damaging	1.00
R2215:Baz1a	UTSW	12	54975369	nonsense	probably null
R2282:Baz1a	UTSW	12	54916812	nonsense	probably null
R2875:Baz1a	UTSW	12	54923119	missense	probably damaging	1.00
R2890:Baz1a	UTSW	12	54898517	missense	probably benign
R2971:Baz1a	UTSW	12	54923439	missense	probably damaging	1.00
R3404:Baz1a	UTSW	12	54916989	missense	probably benign	0.00
R3419:Baz1a	UTSW	12	54946899	missense	probably benign	0.05
R3699:Baz1a	UTSW	12	54917046	missense	probably benign	0.09
R3899:Baz1a	UTSW	12	54934804	missense	probably benign	0.01
R3927:Baz1a	UTSW	12	54921143	missense	possibly damaging	0.68
R4050:Baz1a	UTSW	12	54929619	missense	probably benign	0.00
R4072:Baz1a	UTSW	12	54941560	missense	probably benign	0.18
R4196:Baz1a	UTSW	12	54911415	missense	probably damaging	1.00
R4289:Baz1a	UTSW	12	54900448	missense	probably damaging	1.00
R4455:Baz1a	UTSW	12	54911368	missense	probably benign	0.26
R4583:Baz1a	UTSW	12	54922540	missense	probably damaging	0.99
R4622:Baz1a	UTSW	12	54941515	missense	probably benign	0.00
R4807:Baz1a	UTSW	12	54898482	missense	probably benign	0.28
R4998:Baz1a	UTSW	12	54975137	missense	probably damaging	1.00
R5239:Baz1a	UTSW	12	54898344	missense	probably damaging	0.99
R5379:Baz1a	UTSW	12	54894348	missense	probably damaging	1.00
R5408:Baz1a	UTSW	12	54923050	missense	probably damaging	1.00
R5678:Baz1a	UTSW	12	54900532	missense	probably damaging	0.99
R5810:Baz1a	UTSW	12	54927715	intron	probably benign
R6092:Baz1a	UTSW	12	54909083	missense	possibly damaging	0.88
R6317:Baz1a	UTSW	12	54954800	missense	possibly damaging	0.92
R6332:Baz1a	UTSW	12	54918554	missense	probably benign	0.01
R6803:Baz1a	UTSW	12	54941555	missense	probably null	0.99
R7185:Baz1a	UTSW	12	54975308	missense	probably damaging	1.00
R7248:Baz1a	UTSW	12	54900508	missense	probably damaging	1.00
R7392:Baz1a	UTSW	12	54898765	missense	probably damaging	1.00
R8009:Baz1a	UTSW	12	54895031	nonsense	probably null
R8025:Baz1a	UTSW	12	54909136	missense	probably benign	0.34
R8392:Baz1a	UTSW	12	54923123	missense	probably damaging	1.00

Posted On

2015-04-16