Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:Baz1a'

316355

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

040854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4072 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54892989-55014348 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54941560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 268 (I268T)

Ref Sequence

ENSEMBL: ENSMUSP00000133478 (fasta)

Gene Model

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

AlphaFold

O88379

Predicted Effect

probably benign
Transcript: ENSMUST00000038926
AA Change: I268T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: I268T

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
AA Change: I268T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: I268T

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

0.0844

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

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
4930590J08Rik	A	G	6: 91,945,361		probably null	Het
Abcc5	A	G	16: 20,333,695	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Acss3	C	T	10: 107,123,585		probably benign	Het
Ankar	G	T	1: 72,688,592	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atp4a	T	C	7: 30,715,332	I182T	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Baz2b	A	T	2: 59,912,573		probably null	Het
C2cd4d	C	A	3: 94,363,878	C150*	probably null	Het
Crtac1	T	C	19: 42,304,707	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,106,492	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,298	R2284*	probably null	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Galntl5	A	T	5: 25,198,480	K150*	probably null	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm19965	A	G	1: 116,821,071	T161A	probably benign	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hydin	G	A	8: 110,505,256	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Obscn	A	G	11: 58,997,183	I7652T	unknown	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr52	T	A	2: 86,181,647	M155L	probably benign	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde7a	G	A	3: 19,256,853	R70C	probably damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pms2	T	C	5: 143,929,001	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Rp1l1	A	T	14: 64,028,132	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,338,907	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,946,680	D374G	probably damaging	Het
Slco2a1	T	A	9: 103,068,002	I192N	probably damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396	T45A	probably damaging	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Vwc2	T	A	11: 11,116,446	L178Q	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,998,064	T617I	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
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
liverlips	UTSW	12	54921143	missense	possibly damaging	0.68
smooch	UTSW	12	54916823	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
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
R8862:Baz1a	UTSW	12	54985839	unclassified	probably benign
R8949:Baz1a	UTSW	12	54894453	missense	probably damaging	1.00
R9340:Baz1a	UTSW	12	54916587	missense	probably damaging	0.97
R9389:Baz1a	UTSW	12	54916823	missense	probably damaging	1.00
R9401:Baz1a	UTSW	12	54916554	missense	probably damaging	1.00
R9666:Baz1a	UTSW	12	54941560	missense	probably benign	0.18
R9722:Baz1a	UTSW	12	54900097	missense	probably benign	0.43
R9746:Baz1a	UTSW	12	54975110	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGAGCAGTATCAAGCG -3'
(R):5'- TTTGGCTTAGTCTTTAACAGCAGC -3'

Sequencing Primer
(F):5'- GCGAGCACACACTCAAGTTTTC -3'
(R):5'- GTCTTTAACAGCAGCAATAGTGGCC -3'

Posted On

2015-05-15