Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Baz2a'

263070

Institutional Source

Beutler Lab

Gene Symbol

Baz2a

Ensembl Gene

ENSMUSG00000040054

Gene Name

bromodomain adjacent to zinc finger domain, 2A

Synonyms

C030005G16Rik, Tip5, Walp3

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3106 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

128091577-128129303 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGCGGCGGTACTTGCGGG to AG at 128125077 bp (GRCm38)

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Baz2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Baz2a	APN	10	128124935	missense	probably benign	0.00
IGL00501:Baz2a	APN	10	128114625	missense	probably benign	0.14
IGL00743:Baz2a	APN	10	128114526	missense	probably benign
IGL01362:Baz2a	APN	10	128121964	missense	probably damaging	0.98
IGL01394:Baz2a	APN	10	128118645	missense	possibly damaging	0.46
IGL01603:Baz2a	APN	10	128111168	missense	probably damaging	0.98
IGL02165:Baz2a	APN	10	128119349	missense	probably benign	0.03
IGL02732:Baz2a	APN	10	128125175	missense	possibly damaging	0.66
IGL03030:Baz2a	APN	10	128125146	missense	possibly damaging	0.62
IGL03087:Baz2a	APN	10	128122313	missense	probably damaging	0.99
R0255:Baz2a	UTSW	10	128114639	missense	possibly damaging	0.66
R0737:Baz2a	UTSW	10	128116080	missense	possibly damaging	0.92
R0742:Baz2a	UTSW	10	128113666	nonsense	probably null
R0755:Baz2a	UTSW	10	128119691	missense	possibly damaging	0.92
R0798:Baz2a	UTSW	10	128126323	splice site	probably benign
R0879:Baz2a	UTSW	10	128121304	missense	probably damaging	0.99
R1023:Baz2a	UTSW	10	128121807	missense	possibly damaging	0.66
R1482:Baz2a	UTSW	10	128109008	missense	possibly damaging	0.92
R1512:Baz2a	UTSW	10	128124152	missense	possibly damaging	0.95
R1658:Baz2a	UTSW	10	128124383	missense	probably benign	0.04
R1983:Baz2a	UTSW	10	128123959	missense	probably benign	0.14
R2059:Baz2a	UTSW	10	128113578	missense	probably damaging	0.98
R2141:Baz2a	UTSW	10	128123612	missense	probably damaging	1.00
R2921:Baz2a	UTSW	10	128125077	frame shift	probably null
R2922:Baz2a	UTSW	10	128125077	frame shift	probably null
R3104:Baz2a	UTSW	10	128125077	frame shift	probably null
R3105:Baz2a	UTSW	10	128125077	frame shift	probably null
R3621:Baz2a	UTSW	10	128125077	frame shift	probably null
R3872:Baz2a	UTSW	10	128124110	missense	probably damaging	1.00
R3873:Baz2a	UTSW	10	128124110	missense	probably damaging	1.00
R3875:Baz2a	UTSW	10	128124110	missense	probably damaging	1.00
R4600:Baz2a	UTSW	10	128121183	missense	probably damaging	0.97
R4692:Baz2a	UTSW	10	128124893	missense	probably damaging	1.00
R4717:Baz2a	UTSW	10	128124942	missense	possibly damaging	0.83
R4821:Baz2a	UTSW	10	128111109	missense	probably damaging	1.00
R4832:Baz2a	UTSW	10	128123130	missense	probably benign	0.08
R4893:Baz2a	UTSW	10	128123415	missense	possibly damaging	0.66
R4907:Baz2a	UTSW	10	128110808	missense	probably damaging	0.99
R5133:Baz2a	UTSW	10	128116126	missense	probably damaging	1.00
R5340:Baz2a	UTSW	10	128115042	missense	probably damaging	1.00
R5527:Baz2a	UTSW	10	128124917	missense	probably damaging	1.00
R5761:Baz2a	UTSW	10	128119690	missense	possibly damaging	0.66
R5891:Baz2a	UTSW	10	128121322	missense	probably damaging	1.00
R6088:Baz2a	UTSW	10	128114642	small deletion	probably benign
R6089:Baz2a	UTSW	10	128114642	small deletion	probably benign
R6323:Baz2a	UTSW	10	128126417	missense	probably benign	0.21
R6894:Baz2a	UTSW	10	128123581	missense	possibly damaging	0.81
R7101:Baz2a	UTSW	10	128121187	missense	possibly damaging	0.66
R7178:Baz2a	UTSW	10	128124457	missense	probably damaging	0.98
R7179:Baz2a	UTSW	10	128124457	missense	probably damaging	0.98
R7202:Baz2a	UTSW	10	128118559	missense	possibly damaging	0.54
R7223:Baz2a	UTSW	10	128112606	missense	probably damaging	1.00
R7268:Baz2a	UTSW	10	128124221	missense	possibly damaging	0.66
R7426:Baz2a	UTSW	10	128116078	missense	probably damaging	1.00
R7464:Baz2a	UTSW	10	128122073	missense	possibly damaging	0.81
R7568:Baz2a	UTSW	10	128125270	missense	possibly damaging	0.83
R7672:Baz2a	UTSW	10	128123857	missense	possibly damaging	0.90
R7948:Baz2a	UTSW	10	128125325	missense	possibly damaging	0.94
R7993:Baz2a	UTSW	10	128125622	missense	probably benign	0.27
R8013:Baz2a	UTSW	10	128125288	missense	probably benign	0.09
R8013:Baz2a	UTSW	10	128125292	missense	possibly damaging	0.92
R8274:Baz2a	UTSW	10	128121847	missense	probably benign	0.04
R9034:Baz2a	UTSW	10	128116399	missense	probably damaging	0.99
R9070:Baz2a	UTSW	10	128123062	missense	probably benign	0.02
R9245:Baz2a	UTSW	10	128121943	missense	probably benign
R9329:Baz2a	UTSW	10	128125056	missense	possibly damaging	0.90
R9472:Baz2a	UTSW	10	128112755	missense	probably benign	0.00
RF016:Baz2a	UTSW	10	128125316	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCATGACATGCAGTGTTTCCC -3'
(R):5'- ATGTGAGGAATACGCTTTTGTC -3'

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

Posted On

2015-02-05