Mutagenetix > Incidental Mutation

Incidental Mutation 'R1658:Baz2a'

186541

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

039694-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128091577-128129303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128124383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1489 (M1489K)

Ref Sequence

ENSEMBL: ENSMUSP00000151445 (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
AA Change: M1486K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: M1486K

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
AA Change: M1487K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: M1487K

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
AA Change: M1489K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000220049
AA Change: M1486K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,178,100	S604A	probably benign	Het
Apbb1	G	A	7: 105,574,084	P107S	probably damaging	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdca2	A	G	14: 67,677,699	S704P	possibly damaging	Het
Chfr	T	C	5: 110,153,169	I312T	probably damaging	Het
Csmd1	A	G	8: 16,081,725	V1662A	possibly damaging	Het
Dgkd	T	A	1: 87,926,268	L611Q	probably damaging	Het
Dicer1	A	G	12: 104,700,414	V1376A	probably benign	Het
Elp2	C	T	18: 24,617,413	T269M	probably benign	Het
Ephb6	T	A	6: 41,614,245	V112E	probably damaging	Het
Fbxo11	A	T	17: 88,012,658	Y209N	probably benign	Het
Frem1	C	T	4: 83,001,808	R437Q	probably damaging	Het
G6pc2	A	T	2: 69,227,069	K353M	probably damaging	Het
Gabbr1	A	G	17: 37,047,507	T46A	probably damaging	Het
Gbp9	T	A	5: 105,094,468	Q135L	probably damaging	Het
Gstp1	A	T	19: 4,037,375	M20K	probably damaging	Het
Heatr6	A	G	11: 83,758,367	R183G	probably damaging	Het
Ints11	A	G	4: 155,887,728	K397E	probably damaging	Het
Intu	A	G	3: 40,692,781	T695A	probably benign	Het
Kif21b	T	C	1: 136,171,285	V1437A	probably damaging	Het
Klhl24	T	A	16: 20,107,092	Y123*	probably null	Het
Lipm	C	T	19: 34,116,447	L255F	probably benign	Het
Max	A	T	12: 76,938,581	M121K	probably benign	Het
Mga	A	T	2: 119,941,689	I1677L	possibly damaging	Het
Msantd1	C	A	5: 34,921,561	L147M	probably damaging	Het
Msantd1	T	A	5: 34,921,562	L147Q	probably benign	Het
Mylk4	T	C	13: 32,712,789	D363G	possibly damaging	Het
Naaa	T	C	5: 92,272,441		probably null	Het
Ninl	A	G	2: 150,964,159	Y381H	probably damaging	Het
Nwd2	A	G	5: 63,807,246	N1391S	probably damaging	Het
Olfr1537	C	T	9: 39,237,959	C155Y	probably benign	Het
Olfr421-ps1	G	A	1: 174,152,223	A236T	probably damaging	Het
Phip	A	G	9: 82,871,498	V1731A	probably benign	Het
Plxnb1	T	A	9: 109,102,871	C488*	probably null	Het
Rgs7	T	C	1: 175,079,554	I374V	probably benign	Het
Rin2	A	T	2: 145,876,456	M574L	probably benign	Het
Rps18	A	T	17: 33,952,418	D92E	probably benign	Het
Scrn1	T	A	6: 54,520,806	I267L	probably benign	Het
Stard9	T	C	2: 120,701,542	V67A	probably benign	Het
Syne1	T	G	10: 5,367,616	M493L	probably benign	Het
Tbc1d2	G	A	4: 46,614,207	R625C	probably damaging	Het
Tcerg1l	A	G	7: 138,394,180	S200P	probably damaging	Het
Tet3	A	T	6: 83,369,057	V1331E	probably benign	Het
Ticrr	A	T	7: 79,695,549	I1721F	possibly damaging	Het
Tjp2	T	C	19: 24,112,947	D577G	probably damaging	Het
Tmem2	T	C	19: 21,801,879	V351A	probably damaging	Het
Tmem38b	A	G	4: 53,840,713	M43V	probably benign	Het
Trabd	T	A	15: 89,085,866		probably null	Het
Trpv5	C	A	6: 41,674,282	D277Y	probably damaging	Het
Tubb1	A	C	2: 174,456,623	D67A	probably damaging	Het
Ubxn7	A	G	16: 32,381,236		probably null	Het
Ugp2	G	A	11: 21,333,774	P98S	probably benign	Het
Vmn2r66	G	T	7: 85,007,747	P150Q	probably benign	Het
Zbtb11	A	T	16: 55,974,225	H55L	possibly damaging	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
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
R3106: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'- ATGTCCTGCTCAAGGCACTGCATC -3'
(R):5'- AGAAGACACCAAGGCTTGTCCTGG -3'

Sequencing Primer
(F):5'- GGCGCTTCACAAACATCTTAG -3'
(R):5'- gcaacacgcaggcaaaac -3'

Posted On

2014-05-09