Mutagenetix > Incidental Mutation

Incidental Mutation 'R3621:Baz2a'

268639

Institutional Source

Beutler Lab

Gene Symbol

Baz2a

Ensembl Gene

ENSMUSG00000040054

Gene Name

bromodomain adjacent to zinc finger domain, 2A

Synonyms

C030005G16Rik, Walp3, Tip5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3621 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

127927453-127965172 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGCGGCGGTACTTGCGGG to AG at 127960946 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 null
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 null
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 null
Transcript: ENSMUST00000217851

Predicted Effect

probably null
Transcript: ENSMUST00000220049

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,140,735 (GRCm39)	S161P	probably damaging	Het
Atp8a2	C	A	14: 60,263,587 (GRCm39)		probably null	Het
Cep192	T	C	18: 67,962,928 (GRCm39)	V648A	probably benign	Het
Csmd1	T	C	8: 16,042,684 (GRCm39)	S2350G	probably benign	Het
Enpp6	T	C	8: 47,518,540 (GRCm39)	W223R	probably benign	Het
Erich3	T	C	3: 154,454,369 (GRCm39)	Y515H	possibly damaging	Het
Fam118a	T	C	15: 84,930,002 (GRCm39)	F77L	probably damaging	Het
Fsip2	C	A	2: 82,810,602 (GRCm39)	T2307K	probably benign	Het
Gcg	T	C	2: 62,307,279 (GRCm39)	E94G	probably damaging	Het
Hdc	T	A	2: 126,458,187 (GRCm39)	Y45F	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspa8	A	T	9: 40,713,219 (GRCm39)	M1L	probably damaging	Het
Ilvbl	G	A	10: 78,413,014 (GRCm39)	V179M	probably damaging	Het
Mettl4	T	C	17: 95,042,936 (GRCm39)	Y300C	probably damaging	Het
Or7d10	T	C	9: 19,832,209 (GRCm39)	Y235H	probably damaging	Het
Otogl	T	C	10: 107,710,232 (GRCm39)	D619G	probably damaging	Het
Pnpla1	C	T	17: 29,096,362 (GRCm39)	A147V	probably damaging	Het
Slc24a4	T	C	12: 102,185,222 (GRCm39)	F111L	probably damaging	Het
Tep1	G	A	14: 51,066,477 (GRCm39)	R2328C	probably damaging	Het
Thbs1	T	C	2: 117,951,640 (GRCm39)	V820A	probably benign	Het
Timd2	G	A	11: 46,569,040 (GRCm39)	T206I	probably benign	Het
Zfp445	C	T	9: 122,681,833 (GRCm39)	A703T	probably benign	Het
Zpbp2	A	G	11: 98,443,382 (GRCm39)	T18A	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
R0798:Baz2a	UTSW	10	127,962,192 (GRCm39)	splice site	probably benign
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
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'- CATGACATGCAGTGTTTCCC -3'
(R):5'- CATGTGAGGAATACGCTTTTGTC -3'

Sequencing Primer
(F):5'- GACATGCAGTGTTTCCCTTTACAATG -3'
(R):5'- AGGAATACGCTTTTGTCTTGCC -3'

Posted On

2015-02-19