Mutagenetix > Incidental Mutations

Incidental Mutation 'R5678:Baz1a'

442901

Institutional Source

Beutler Lab

Gene Symbol

Baz1a

Ensembl Gene

ENSMUSG00000035021

Gene Name

bromodomain adjacent to zinc finger domain 1A

Synonyms

Wcrf180, Acf1, Gtl5

MMRRC Submission

043317-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5678 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54892989-55014348 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54900532 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1111 (K1111E)

Ref Sequence

ENSEMBL: ENSMUSP00000039757 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038926
AA Change: K1111E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: K1111E

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

possibly damaging
Transcript: ENSMUST00000173433
AA Change: K1108E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: K1108E

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

0.1225

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,516,529	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,662,053	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,496,872	C43W	probably damaging	Het
Aatk	T	C	11: 120,010,154	T1082A	probably benign	Het
Acsl1	T	A	8: 46,492,850	F7I	probably benign	Het
Adgb	T	G	10: 10,431,326	S299R	possibly damaging	Het
Apob	T	C	12: 7,991,494	F738L	possibly damaging	Het
Art3	T	C	5: 92,392,550	Y51H	probably damaging	Het
Atr	C	T	9: 95,951,487	Q2597*	probably null	Het
Atrn	T	C	2: 130,970,016	V627A	probably damaging	Het
Ccdc40	T	C	11: 119,231,572	S67P	possibly damaging	Het
Cd164	T	C	10: 41,519,952		probably null	Het
Cep295	T	C	9: 15,322,858	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,307,265	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239	A998V	unknown	Het
Csrnp2	T	C	15: 100,481,804	*535W	probably null	Het
Dhrs7	C	T	12: 72,657,332	G130D	probably damaging	Het
Dnah3	T	C	7: 120,077,851	T477A	probably benign	Het
Dscam	A	G	16: 96,790,900	F725S	probably benign	Het
Dstyk	T	C	1: 132,453,291	V508A	probably benign	Het
Eif4g3	A	G	4: 138,151,742	E595G	probably damaging	Het
Epha6	A	T	16: 59,818,979	V844E	probably damaging	Het
Esrp2	G	A	8: 106,132,118	A629V	probably damaging	Het
Fam208a	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,429,123		probably benign	Het
Fndc3b	A	G	3: 27,429,023	S1009P	probably benign	Het
Gm13762	A	T	2: 88,972,973	L306*	probably null	Het
Gm14124	A	T	2: 150,268,505	R372*	probably null	Het
Gm8257	A	T	14: 44,657,249	I28N	probably damaging	Het
Ighv5-9-1	T	C	12: 113,736,587	E4G	possibly damaging	Het
Ints3	A	G	3: 90,403,548	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,550,794		probably benign	Het
Npy1r	T	C	8: 66,704,203	C92R	probably damaging	Het
Nup210l	T	C	3: 90,190,959	V1406A	probably damaging	Het
Olfr1248	A	G	2: 89,617,281	F304L	probably benign	Het
Olfr978	T	C	9: 39,993,903	V31A	probably benign	Het
Pqlc1	T	C	18: 80,257,034	I40T	probably damaging	Het
Prune2	A	G	19: 17,118,668	D512G	probably damaging	Het
Qdpr	T	C	5: 45,447,637	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,724,876	E2G	unknown	Het
Setd2	A	G	9: 110,602,186	T5A	probably damaging	Het
Srpk2	TCA	T	5: 23,524,606		probably null	Het
Sympk	T	C	7: 19,049,472		probably null	Het
Tchh	A	T	3: 93,445,626	Q791L	unknown	Het
Tmed11	T	C	5: 108,786,165	D55G	probably benign	Het
Tnrc18	T	C	5: 142,733,564	D1989G	unknown	Het
Utp20	A	T	10: 88,809,117	H582Q	probably benign	Het
Utrn	A	G	10: 12,442,018	I554T	probably damaging	Het
Zfp119a	T	C	17: 55,868,336	E53G	probably benign	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
IGL02639:Baz1a	APN	12	54896025	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGCACCATGTTTTCAGC -3'
(R):5'- CTCTTTAACATTGGGTGCGG -3'

Sequencing Primer
(F):5'- AGCACCATGTTTTCAGCATCCC -3'
(R):5'- TCTGTTGCAACCCAGGATGAC -3'

Posted On

2016-11-09