Mutagenetix > Incidental Mutations

Incidental Mutation 'R0183:Baz1a'

23907

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

038448-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0183 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

54892989-55014348 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54911387 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1026 (E1026D)

Ref Sequence

ENSEMBL: ENSMUSP00000039757 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038926
AA Change: E1026D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: E1026D

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: E1023D

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

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: E1023D

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

0.0701

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

84% (42/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 76,886,235	D490N	probably benign	Het
Aatf	A	T	11: 84,510,425		probably null	Het
Amer3	T	A	1: 34,587,757	I359K	probably damaging	Het
Appl1	A	T	14: 26,962,854	D79E	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Card14	C	T	11: 119,326,698	R386C	probably damaging	Het
Cenpb	T	C	2: 131,178,453		probably benign	Het
Clcn4	G	A	7: 7,295,091	Q40*	probably null	Het
Clec16a	T	C	16: 10,560,022	Y28H	probably damaging	Het
Cul4a	T	C	8: 13,133,790	S393P	probably damaging	Het
Dcbld2	A	G	16: 58,445,359	D194G	possibly damaging	Het
Dnah6	C	T	6: 73,082,923	V2841I	probably damaging	Het
Eaf1	T	A	14: 31,495,315	L16Q	probably damaging	Het
Eef1e1	C	T	13: 38,656,186	A48T	probably damaging	Het
Exoc3l	C	A	8: 105,295,300	R57L	probably damaging	Het
Faf1	A	G	4: 109,935,610	N593S	probably benign	Het
Fosb	A	G	7: 19,307,385	I61T	probably damaging	Het
Fstl5	A	C	3: 76,322,272	I127L	possibly damaging	Het
Gas2l2	T	A	11: 83,429,056	M125L	probably benign	Het
Gcnt1	C	T	19: 17,329,117	D415N	probably benign	Het
Gtpbp4	A	G	13: 8,974,961	M531T	probably benign	Het
Gucy1b2	T	A	14: 62,419,140	K256M	probably damaging	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Jkamp	T	C	12: 72,094,035	I118T	possibly damaging	Het
Kalrn	A	T	16: 34,171,379		probably null	Het
Kcnma1	A	T	14: 23,508,052	D317E	probably damaging	Het
Lipo2	A	T	19: 33,749,551		probably null	Het
Lrig3	T	A	10: 126,010,192	I830K	probably damaging	Het
Map3k4	A	G	17: 12,235,128	I1429T	probably damaging	Het
Mkks	G	A	2: 136,880,686	L184F	probably benign	Het
Mmp19	C	T	10: 128,799,003	T424I	possibly damaging	Het
Mrps23	A	G	11: 88,210,154	E57G	probably damaging	Het
Myh7	T	C	14: 54,978,876	T1282A	probably benign	Het
Olfr1046	T	A	2: 86,216,829	S294C	probably damaging	Het
Olfr1380	A	G	11: 49,564,848	D309G	probably benign	Het
Phf19	T	C	2: 34,911,202	N75S	probably damaging	Het
Pink1	T	G	4: 138,314,179	H477P	probably damaging	Het
Ppp6r2	G	A	15: 89,285,787	C835Y	probably damaging	Het
Prkcq	T	C	2: 11,253,162	I295T	probably damaging	Het
Ptpn13	T	C	5: 103,516,408	S421P	probably benign	Het
Ptpn6	A	G	6: 124,728,951	S77P	probably damaging	Het
Ptpre	G	T	7: 135,669,845	M389I	probably benign	Het
Ranbp9	T	C	13: 43,425,123	D158G	probably damaging	Het
Sec14l3	C	T	11: 4,075,547	S357L	probably benign	Het
Slc1a6	A	G	10: 78,791,233	T135A	probably damaging	Het
Spef2	A	T	15: 9,716,359	D323E	possibly damaging	Het
Taf2	T	A	15: 55,055,790	K396N	possibly damaging	Het
Tcf12	A	T	9: 71,917,027	V94E	probably damaging	Het
Trim24	T	A	6: 37,943,480	I404N	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGAATTGGTGACCTCCAAGCTC -3'
(R):5'- TCTGCCTCCTGGGTGCAGTAAC -3'

Sequencing Primer
(F):5'- tgtttgtttgtttgtttgttttttcc -3'
(R):5'- TCCTCTGTTCTAGAATGTGCAT -3'

Posted On

2013-04-16