Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02995:Baz1a'

407103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Baz1a

Ensembl Gene

ENSMUSG00000035021

Gene Name

bromodomain adjacent to zinc finger domain 1A

Synonyms

Gtl5, Wcrf180, Acf1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

54939774-55061133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54947232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1139 (R1139H)

Ref Sequence

ENSEMBL: ENSMUSP00000039757 (fasta)

Gene Model

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

AlphaFold

O88379

Predicted Effect

probably damaging
Transcript: ENSMUST00000038926
AA Change: R1139H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: R1139H

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: R1136H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: R1136H

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,470,456 (GRCm39)	V175A	probably benign	Het
Adam19	G	A	11: 46,027,176 (GRCm39)	R603Q	probably benign	Het
Adam25	T	C	8: 41,206,760 (GRCm39)	S9P	probably benign	Het
Akr1e1	T	A	13: 4,647,477 (GRCm39)		probably benign	Het
Ano8	C	T	8: 71,935,761 (GRCm39)	V286I	possibly damaging	Het
Brca2	T	A	5: 150,452,953 (GRCm39)	L29H	probably damaging	Het
Btaf1	T	C	19: 36,958,535 (GRCm39)		probably benign	Het
C8b	T	A	4: 104,658,525 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,244,608 (GRCm39)	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,584,511 (GRCm39)	*514W	probably null	Het
D2hgdh	G	T	1: 93,757,558 (GRCm39)	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,008,980 (GRCm39)	V228M	probably damaging	Het
Fgd6	T	A	10: 93,881,342 (GRCm39)	L732*	probably null	Het
Gm21969	G	A	4: 139,335,009 (GRCm39)	G348S	probably benign	Het
Gprc6a	C	T	10: 51,502,895 (GRCm39)	V323M	probably damaging	Het
Gzme	T	A	14: 56,356,166 (GRCm39)	M111L	probably damaging	Het
Iars2	G	T	1: 185,035,498 (GRCm39)	Q581K	probably benign	Het
Klra17	A	T	6: 129,845,647 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lats2	T	C	14: 57,937,805 (GRCm39)	Y228C	probably damaging	Het
Lrrn3	T	C	12: 41,502,216 (GRCm39)	I700M	probably damaging	Het
Ltb	A	T	17: 35,414,348 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,923,279 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,480,198 (GRCm39)	E205V	probably damaging	Het
Or11l3	A	G	11: 58,516,107 (GRCm39)	M255T	possibly damaging	Het
Or12d13	A	T	17: 37,647,600 (GRCm39)	H174Q	probably damaging	Het
Or1e35	G	A	11: 73,798,045 (GRCm39)	T91M	possibly damaging	Het
Or1j17	C	T	2: 36,578,644 (GRCm39)	P210L	possibly damaging	Het
Pgap1	A	C	1: 54,532,509 (GRCm39)	I670S	probably benign	Het
Plxna4	A	T	6: 32,493,530 (GRCm39)	I362N	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prr27	T	C	5: 87,990,675 (GRCm39)	S96P	probably benign	Het
Psip1	T	A	4: 83,381,954 (GRCm39)		probably benign	Het
Rgs3	T	A	4: 62,544,084 (GRCm39)	H285Q	possibly damaging	Het
Ror1	T	C	4: 100,191,722 (GRCm39)		probably benign	Het
Rps6ka5	C	A	12: 100,540,258 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Snx6	T	C	12: 54,842,295 (GRCm39)		probably benign	Het
Tbc1d9	T	A	8: 83,995,688 (GRCm39)		probably null	Het
Tek	T	C	4: 94,627,877 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,509 (GRCm39)	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,244,871 (GRCm39)	I353F	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
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
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

Posted On

2016-08-02