Mutagenetix > Incidental Mutations

Incidental Mutation 'R2037:Baz1a'

224822

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

040044-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54892989-55014348 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54929646 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 415 (P415Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133478 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038926
AA Change: P415Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: P415Q

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: P415Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: P415Q

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

unknown
Transcript: ENSMUST00000174225
AA Change: P36Q

SMART Domains

Protein: ENSMUSP00000133324
Gene: ENSMUSG00000035021
AA Change: P36Q

Domain	Start	End	E-Value	Type
Pfam:DDT	45	78	8.8e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,089,984		probably null	Het
AI987944	T	C	7: 41,374,391	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,456,120	S296T	probably benign	Het
Apob	A	G	12: 8,007,488	D1957G	probably benign	Het
Brca2	T	A	5: 150,540,669	H1299Q	probably benign	Het
C7	G	T	15: 5,034,238	S227*	probably null	Het
Catsperb	A	T	12: 101,507,962	R306S	probably damaging	Het
Cbx3	T	A	6: 51,471,813		probably null	Het
Ccdc129	A	G	6: 55,897,875	N270S	probably benign	Het
Ccnt2	A	G	1: 127,803,399	Y671C	probably damaging	Het
Crocc	A	G	4: 141,046,942		probably null	Het
Ctr9	G	A	7: 111,046,807	V669I	probably benign	Het
Dck	T	G	5: 88,772,717	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,944,606	D119E	probably benign	Het
Dnah10	A	T	5: 124,746,704	K596N	probably benign	Het
Dnah7a	A	T	1: 53,582,582	V1128E	probably benign	Het
Dph1	A	T	11: 75,185,853		probably null	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Enthd1	A	G	15: 80,560,349	S2P	possibly damaging	Het
Erc1	A	C	6: 119,722,255	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 75,322,998		probably null	Het
Fam169a	C	A	13: 97,107,092	A210E	probably benign	Het
Fcmr	A	G	1: 130,878,333	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,167,889	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,978,512	D1725G	probably damaging	Het
Heatr5b	A	T	17: 78,829,505	C195*	probably null	Het
Herc2	G	A	7: 56,205,961	A3882T	probably damaging	Het
Il20	T	A	1: 130,908,378	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,798,299	S892G	probably damaging	Het
Ipo13	A	T	4: 117,904,661	Y447*	probably null	Het
Kbtbd12	A	T	6: 88,617,797	N350K	probably benign	Het
Kiz	T	C	2: 146,969,960	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,117	D870G	probably benign	Het
Methig1	C	T	15: 100,353,586	A126V	probably benign	Het
Mme	A	G	3: 63,328,260	D209G	probably null	Het
Mroh4	A	G	15: 74,609,761	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,290,866	K190N	probably damaging	Het
Ncf1	T	C	5: 134,229,552	I6V	probably damaging	Het
Nmt2	T	C	2: 3,309,581	F121L	probably damaging	Het
Nol10	A	G	12: 17,361,151	D183G	probably benign	Het
Nsun7	T	C	5: 66,261,086	V53A	probably benign	Het
Olfr1045	T	C	2: 86,197,832	S307G	probably benign	Het
Olfr1054	T	C	2: 86,332,430	N309D	probably benign	Het
Olfr819	T	C	10: 129,966,140	I187V	probably benign	Het
Pappa2	A	T	1: 158,956,644	Y265*	probably null	Het
Pigg	G	A	5: 108,338,652	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,650,335	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,568,221		probably null	Het
Pld4	A	G	12: 112,768,558	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,343,193	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,182,657	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 91,902,629	D883E	probably damaging	Het
Retnlg	T	C	16: 48,874,252	C88R	probably damaging	Het
Sin3a	C	T	9: 57,096,825	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243		probably benign	Het
Sppl2c	G	C	11: 104,186,481	V36L	probably benign	Het
Srp72	T	A	5: 76,976,491	I68N	probably damaging	Het
Srrm3	T	A	5: 135,854,377	S195R	probably damaging	Het
Srrm4	T	A	5: 116,467,828		probably benign	Het
Ssb	A	G	2: 69,868,819	S199G	probably benign	Het
Sult2a6	T	A	7: 14,254,709	Y42F	probably damaging	Het
Syne2	A	G	12: 76,025,569	T120A	probably benign	Het
Tas1r1	A	G	4: 152,028,170	F809L	probably damaging	Het
Tead3	A	G	17: 28,336,570	S117P	probably damaging	Het
Tefm	C	T	11: 80,140,230	R60H	probably damaging	Het
Tmem104	G	A	11: 115,201,395	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,699,205	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 22,851,964	I178F	probably damaging	Het
Vmn1r6	A	T	6: 57,003,124	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,346,370	T540K	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
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
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'- TACCCACCTACTTTCATGGAAC -3'
(R):5'- GCTCTGCCAAAATCATTGTGATACC -3'

Sequencing Primer
(F):5'- CCACCAAGTTACTTTGGGTCATGG -3'
(R):5'- CTCGAAACCATAACTGCTGTGTG -3'

Posted On

2014-08-25