Mutagenetix > Incidental Mutation

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

Gtl5, Wcrf180, Acf1

MMRRC Submission

043317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5678 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54939774-55061133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54947317 bp (GRCm39)

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]

AlphaFold

O88379

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: 23,466,529 (GRCm39)	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,384,010 (GRCm39)	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,463,306 (GRCm39)	C43W	probably damaging	Het
Aatk	T	C	11: 119,900,980 (GRCm39)	T1082A	probably benign	Het
Acsl1	T	A	8: 46,945,887 (GRCm39)	F7I	probably benign	Het
Adgb	T	G	10: 10,307,070 (GRCm39)	S299R	possibly damaging	Het
Apob	T	C	12: 8,041,494 (GRCm39)	F738L	possibly damaging	Het
Art3	T	C	5: 92,540,409 (GRCm39)	Y51H	probably damaging	Het
Atr	C	T	9: 95,833,540 (GRCm39)	Q2597*	probably null	Het
Atrn	T	C	2: 130,811,936 (GRCm39)	V627A	probably damaging	Het
Ccdc40	T	C	11: 119,122,398 (GRCm39)	S67P	possibly damaging	Het
Cd164	T	C	10: 41,395,948 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,234,154 (GRCm39)	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,284,199 (GRCm39)	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239 (GRCm39)	A998V	unknown	Het
Csrnp2	T	C	15: 100,379,685 (GRCm39)	*535W	probably null	Het
Dhrs7	C	T	12: 72,704,106 (GRCm39)	G130D	probably damaging	Het
Dnah3	T	C	7: 119,677,074 (GRCm39)	T477A	probably benign	Het
Dscam	A	G	16: 96,592,100 (GRCm39)	F725S	probably benign	Het
Dstyk	T	C	1: 132,381,029 (GRCm39)	V508A	probably benign	Het
Eif4g3	A	G	4: 137,879,053 (GRCm39)	E595G	probably damaging	Het
Epha6	A	T	16: 59,639,342 (GRCm39)	V844E	probably damaging	Het
Esrp2	G	A	8: 106,858,750 (GRCm39)	A629V	probably damaging	Het
Fndc3b	A	G	3: 27,483,172 (GRCm39)	S1009P	probably benign	Het
Gm8257	A	T	14: 44,894,706 (GRCm39)	I28N	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,207 (GRCm39)	E4G	possibly damaging	Het
Ints3	A	G	3: 90,310,855 (GRCm39)	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,458,101 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,156,855 (GRCm39)	C92R	probably damaging	Het
Nup210l	T	C	3: 90,098,266 (GRCm39)	V1406A	probably damaging	Het
Or10g7	T	C	9: 39,905,199 (GRCm39)	V31A	probably benign	Het
Or4a75	A	G	2: 89,447,625 (GRCm39)	F304L	probably benign	Het
Or4c108	A	T	2: 88,803,317 (GRCm39)	L306*	probably null	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Qdpr	T	C	5: 45,604,979 (GRCm39)	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,691,135 (GRCm39)	E2G	unknown	Het
Setd2	A	G	9: 110,431,254 (GRCm39)	T5A	probably damaging	Het
Slc66a2	T	C	18: 80,300,249 (GRCm39)	I40T	probably damaging	Het
Srpk2	TCA	T	5: 23,729,604 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,783,397 (GRCm39)		probably null	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,933 (GRCm39)	Q791L	unknown	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tnrc18	T	C	5: 142,719,319 (GRCm39)	D1989G	unknown	Het
Utp20	A	T	10: 88,644,979 (GRCm39)	H582Q	probably benign	Het
Utrn	A	G	10: 12,317,762 (GRCm39)	I554T	probably damaging	Het
Zfp1005	A	T	2: 150,110,425 (GRCm39)	R372*	probably null	Het
Zfp119a	T	C	17: 56,175,336 (GRCm39)	E53G	probably benign	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
IGL03104:Baz1a	APN	12	54,941,743 (GRCm39)	missense	probably damaging	1.00
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
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

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