Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Baz1a'

418871

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 #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

54939774-55061133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54941743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1488 (S1488P)

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: S1491P

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

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: S1491P

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: S1488P

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

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: S1488P

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	C	A	1: 58,321,918 (GRCm39)	T70K	probably benign	Het
Armt1	T	A	10: 4,389,615 (GRCm39)	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,120,934 (GRCm39)	L46S	probably damaging	Het
Coro7	T	A	16: 4,446,990 (GRCm39)	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,732,885 (GRCm39)	R555L	probably damaging	Het
Dclk2	A	G	3: 86,743,666 (GRCm39)	C268R	probably damaging	Het
Dock7	A	T	4: 98,847,260 (GRCm39)	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,178,384 (GRCm39)	C2092*	probably null	Het
Dtx1	T	A	5: 120,833,030 (GRCm39)	Q136L	possibly damaging	Het
Egln3	C	T	12: 54,249,981 (GRCm39)		probably benign	Het
Eml5	A	T	12: 98,827,504 (GRCm39)	Y575*	probably null	Het
Entpd5	A	T	12: 84,431,022 (GRCm39)	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,634,946 (GRCm39)	F188L	probably damaging	Het
Frrs1	T	C	3: 116,675,431 (GRCm39)	S120P	probably benign	Het
Gadl1	T	C	9: 115,903,108 (GRCm39)	I479T	possibly damaging	Het
Gfra2	A	T	14: 71,205,725 (GRCm39)	M106L	probably benign	Het
Gm17455	T	A	10: 60,239,060 (GRCm39)	C108*	probably null	Het
Grhpr	A	G	4: 44,983,867 (GRCm39)		probably benign	Het
Hsp90ab1	G	A	17: 45,882,449 (GRCm39)	R82C	probably damaging	Het
Igsf10	T	C	3: 59,226,905 (GRCm39)	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,703,384 (GRCm39)	I160F	probably benign	Het
Krtap5-5	A	G	7: 141,783,450 (GRCm39)	C67R	unknown	Het
Lhx4	A	T	1: 155,580,967 (GRCm39)	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,631,958 (GRCm39)	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,007,801 (GRCm39)	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Mov10	G	A	3: 104,704,623 (GRCm39)	R763W	probably damaging	Het
Mto1	T	C	9: 78,356,802 (GRCm39)	S106P	probably damaging	Het
Naca	C	T	10: 127,876,233 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or8s10	A	G	15: 98,336,127 (GRCm39)	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,151,532 (GRCm39)		probably benign	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,388,904 (GRCm39)	S377T	probably benign	Het
Sirpd	G	T	3: 15,397,283 (GRCm39)		probably benign	Het
Slc36a3	A	G	11: 55,015,946 (GRCm39)	S403P	probably damaging	Het
Slc4a4	A	G	5: 89,297,231 (GRCm39)	T480A	probably damaging	Het
Slu7	G	A	11: 43,332,883 (GRCm39)	V315I	probably benign	Het
St6galnac3	T	C	3: 152,911,115 (GRCm39)	E282G	probably damaging	Het
Tlr12	A	G	4: 128,509,685 (GRCm39)	V855A	probably benign	Het
Tut7	T	C	13: 59,962,717 (GRCm39)	D350G	probably benign	Het
Vmn1r53	T	A	6: 90,200,944 (GRCm39)	K127*	probably null	Het
Vmn1r72	T	G	7: 11,403,812 (GRCm39)	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,282,501 (GRCm39)	Q705L	probably damaging	Het
Vps33b	C	T	7: 79,925,831 (GRCm39)	R93C	probably damaging	Het
Wdr91	T	A	6: 34,882,491 (GRCm39)	E219D	probably benign	Het
Zan	G	A	5: 137,461,762 (GRCm39)	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,317,278 (GRCm39)	K107N	probably damaging	Het
Zmym2	A	G	14: 57,187,784 (GRCm39)	E1150G	possibly 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
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