Mutagenetix > Incidental Mutation

Incidental Mutation 'R0798:Baz2a'

76495

Institutional Source

Beutler Lab

Gene Symbol

Baz2a

Ensembl Gene

ENSMUSG00000040054

Gene Name

bromodomain adjacent to zinc finger domain, 2A

Synonyms

C030005G16Rik, Walp3, Tip5

MMRRC Submission

038978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127927453-127965172 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 127962192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045621] [ENSMUST00000170054] [ENSMUST00000217851] [ENSMUST00000220049]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045621

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	181	192	N/A	INTRINSIC
low complexity region	342	353	N/A	INTRINSIC
low complexity region	421	475	N/A	INTRINSIC
low complexity region	518	529	N/A	INTRINSIC
MBD	539	614	3.87e-35	SMART
AT_hook	639	651	2.38e0	SMART
AT_hook	660	672	1.65e0	SMART
low complexity region	697	710	N/A	INTRINSIC
coiled coil region	736	776	N/A	INTRINSIC
DDT	837	902	3.75e-18	SMART
Pfam:WHIM1	939	988	4.8e-8	PFAM
low complexity region	1001	1013	N/A	INTRINSIC
AT_hook	1174	1186	6.23e1	SMART
AT_hook	1388	1400	4.21e0	SMART
Pfam:WHIM3	1423	1464	1e-9	PFAM
PHD	1662	1708	1.47e-11	SMART
low complexity region	1741	1753	N/A	INTRINSIC
BROMO	1773	1881	7.71e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170054

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
low complexity region	181	192	N/A	INTRINSIC
low complexity region	343	354	N/A	INTRINSIC
low complexity region	422	476	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC
MBD	540	615	3.87e-35	SMART
AT_hook	640	652	2.38e0	SMART
AT_hook	661	673	1.65e0	SMART
low complexity region	698	711	N/A	INTRINSIC
coiled coil region	737	777	N/A	INTRINSIC
DDT	838	903	3.75e-18	SMART
Pfam:WHIM1	940	989	4.8e-8	PFAM
low complexity region	1002	1014	N/A	INTRINSIC
AT_hook	1175	1187	6.23e1	SMART
AT_hook	1389	1401	4.21e0	SMART
Pfam:WHIM3	1424	1462	5.5e-19	PFAM
PHD	1663	1709	1.47e-11	SMART
low complexity region	1742	1754	N/A	INTRINSIC
BROMO	1774	1882	7.71e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217851

Predicted Effect

probably benign
Transcript: ENSMUST00000220049

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930579C12Rik	T	A	9: 89,034,880 (GRCm39)		noncoding transcript	Het
Bcar3	T	C	3: 122,318,948 (GRCm39)	V695A	probably benign	Het
C130074G19Rik	G	A	1: 184,614,873 (GRCm39)		probably benign	Het
Cmas	T	C	6: 142,710,382 (GRCm39)	V167A	probably damaging	Het
Crppa	G	A	12: 36,571,998 (GRCm39)	R302H	probably benign	Het
Cyp3a25	T	C	5: 145,928,343 (GRCm39)	E234G	probably damaging	Het
Gopc	C	T	10: 52,234,907 (GRCm39)	G79S	probably damaging	Het
Herc2	T	A	7: 55,785,431 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnq5	A	G	1: 22,031,399 (GRCm39)		probably null	Het
Lpp	G	T	16: 24,790,622 (GRCm39)	G29*	probably null	Het
Ly6g6e	T	C	17: 35,297,017 (GRCm39)	F86S	probably benign	Het
Myo5c	T	C	9: 75,165,266 (GRCm39)	F358S	probably damaging	Het
Nlgn1	A	G	3: 25,488,410 (GRCm39)	Y613H	probably benign	Het
Or4k38	T	C	2: 111,165,689 (GRCm39)	I245V	probably benign	Het
Or7e178	A	T	9: 20,225,495 (GRCm39)	Y232*	probably null	Het
Plekhn1	T	A	4: 156,312,720 (GRCm39)	D46V	probably damaging	Het
Ptp4a1	A	T	1: 30,984,005 (GRCm39)		probably benign	Het
Rab23	A	T	1: 33,773,908 (GRCm39)	I123F	probably damaging	Het
Samd4b	G	A	7: 28,101,048 (GRCm39)		probably benign	Het
Shisa4	G	A	1: 135,300,886 (GRCm39)		probably benign	Het
Slc39a11	C	T	11: 113,414,330 (GRCm39)	A90T	probably benign	Het
Tas1r2	T	C	4: 139,397,024 (GRCm39)	Y788H	probably damaging	Het
Tasor	T	A	14: 27,198,593 (GRCm39)	F1308L	probably damaging	Het
Tial1	C	T	7: 128,045,602 (GRCm39)	M327I	probably benign	Het
Ubr2	C	T	17: 47,280,102 (GRCm39)		probably benign	Het
Utp4	T	C	8: 107,648,858 (GRCm39)	S630P	probably benign	Het
Vmn1r212	T	C	13: 23,067,868 (GRCm39)	N155S	probably damaging	Het
Zmym6	C	T	4: 126,997,316 (GRCm39)	P312S	probably benign	Het

Other mutations in Baz2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Baz2a	APN	10	127,960,804 (GRCm39)	missense	probably benign	0.00
IGL00501:Baz2a	APN	10	127,950,494 (GRCm39)	missense	probably benign	0.14
IGL00743:Baz2a	APN	10	127,950,395 (GRCm39)	missense	probably benign
IGL01362:Baz2a	APN	10	127,957,833 (GRCm39)	missense	probably damaging	0.98
IGL01394:Baz2a	APN	10	127,954,514 (GRCm39)	missense	possibly damaging	0.46
IGL01603:Baz2a	APN	10	127,947,037 (GRCm39)	missense	probably damaging	0.98
IGL02165:Baz2a	APN	10	127,955,218 (GRCm39)	missense	probably benign	0.03
IGL02732:Baz2a	APN	10	127,961,044 (GRCm39)	missense	possibly damaging	0.66
IGL03030:Baz2a	APN	10	127,961,015 (GRCm39)	missense	possibly damaging	0.62
IGL03087:Baz2a	APN	10	127,958,182 (GRCm39)	missense	probably damaging	0.99
R0255:Baz2a	UTSW	10	127,950,508 (GRCm39)	missense	possibly damaging	0.66
R0737:Baz2a	UTSW	10	127,951,949 (GRCm39)	missense	possibly damaging	0.92
R0742:Baz2a	UTSW	10	127,949,535 (GRCm39)	nonsense	probably null
R0755:Baz2a	UTSW	10	127,955,560 (GRCm39)	missense	possibly damaging	0.92
R0879:Baz2a	UTSW	10	127,957,173 (GRCm39)	missense	probably damaging	0.99
R1023:Baz2a	UTSW	10	127,957,676 (GRCm39)	missense	possibly damaging	0.66
R1482:Baz2a	UTSW	10	127,944,877 (GRCm39)	missense	possibly damaging	0.92
R1512:Baz2a	UTSW	10	127,960,021 (GRCm39)	missense	possibly damaging	0.95
R1658:Baz2a	UTSW	10	127,960,252 (GRCm39)	missense	probably benign	0.04
R1983:Baz2a	UTSW	10	127,959,828 (GRCm39)	missense	probably benign	0.14
R2059:Baz2a	UTSW	10	127,949,447 (GRCm39)	missense	probably damaging	0.98
R2141:Baz2a	UTSW	10	127,959,481 (GRCm39)	missense	probably damaging	1.00
R2921:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R2922:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3104:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3105:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3106:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3621:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3872:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R3873:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R3875:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R4600:Baz2a	UTSW	10	127,957,052 (GRCm39)	missense	probably damaging	0.97
R4692:Baz2a	UTSW	10	127,960,762 (GRCm39)	missense	probably damaging	1.00
R4717:Baz2a	UTSW	10	127,960,811 (GRCm39)	missense	possibly damaging	0.83
R4821:Baz2a	UTSW	10	127,946,978 (GRCm39)	missense	probably damaging	1.00
R4832:Baz2a	UTSW	10	127,958,999 (GRCm39)	missense	probably benign	0.08
R4893:Baz2a	UTSW	10	127,959,284 (GRCm39)	missense	possibly damaging	0.66
R4907:Baz2a	UTSW	10	127,946,677 (GRCm39)	missense	probably damaging	0.99
R5133:Baz2a	UTSW	10	127,951,995 (GRCm39)	missense	probably damaging	1.00
R5340:Baz2a	UTSW	10	127,950,911 (GRCm39)	missense	probably damaging	1.00
R5527:Baz2a	UTSW	10	127,960,786 (GRCm39)	missense	probably damaging	1.00
R5761:Baz2a	UTSW	10	127,955,559 (GRCm39)	missense	possibly damaging	0.66
R5891:Baz2a	UTSW	10	127,957,191 (GRCm39)	missense	probably damaging	1.00
R6088:Baz2a	UTSW	10	127,950,511 (GRCm39)	small deletion	probably benign
R6089:Baz2a	UTSW	10	127,950,511 (GRCm39)	small deletion	probably benign
R6323:Baz2a	UTSW	10	127,962,286 (GRCm39)	missense	probably benign	0.21
R6894:Baz2a	UTSW	10	127,959,450 (GRCm39)	missense	possibly damaging	0.81
R7101:Baz2a	UTSW	10	127,957,056 (GRCm39)	missense	possibly damaging	0.66
R7178:Baz2a	UTSW	10	127,960,326 (GRCm39)	missense	probably damaging	0.98
R7179:Baz2a	UTSW	10	127,960,326 (GRCm39)	missense	probably damaging	0.98
R7202:Baz2a	UTSW	10	127,954,428 (GRCm39)	missense	possibly damaging	0.54
R7223:Baz2a	UTSW	10	127,948,475 (GRCm39)	missense	probably damaging	1.00
R7268:Baz2a	UTSW	10	127,960,090 (GRCm39)	missense	possibly damaging	0.66
R7426:Baz2a	UTSW	10	127,951,947 (GRCm39)	missense	probably damaging	1.00
R7464:Baz2a	UTSW	10	127,957,942 (GRCm39)	missense	possibly damaging	0.81
R7568:Baz2a	UTSW	10	127,961,139 (GRCm39)	missense	possibly damaging	0.83
R7672:Baz2a	UTSW	10	127,959,726 (GRCm39)	missense	possibly damaging	0.90
R7948:Baz2a	UTSW	10	127,961,194 (GRCm39)	missense	possibly damaging	0.94
R7993:Baz2a	UTSW	10	127,961,491 (GRCm39)	missense	probably benign	0.27
R8013:Baz2a	UTSW	10	127,961,161 (GRCm39)	missense	possibly damaging	0.92
R8013:Baz2a	UTSW	10	127,961,157 (GRCm39)	missense	probably benign	0.09
R8274:Baz2a	UTSW	10	127,957,716 (GRCm39)	missense	probably benign	0.04
R9034:Baz2a	UTSW	10	127,952,268 (GRCm39)	missense	probably damaging	0.99
R9070:Baz2a	UTSW	10	127,958,931 (GRCm39)	missense	probably benign	0.02
R9245:Baz2a	UTSW	10	127,957,812 (GRCm39)	missense	probably benign
R9329:Baz2a	UTSW	10	127,960,925 (GRCm39)	missense	possibly damaging	0.90
R9472:Baz2a	UTSW	10	127,948,624 (GRCm39)	missense	probably benign	0.00
RF016:Baz2a	UTSW	10	127,961,185 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGTCAAGGAGCCGAGATAGTCCAG -3'
(R):5'- GCCCACTTCAGAGTCATCCTCATTG -3'

Sequencing Primer
(F):5'- AGATAGTCCAGCAGTGCCTC -3'
(R):5'- CAGAGTCATCCTCATTGAAGGTC -3'

Posted On

2013-10-16