Mutagenetix > Incidental Mutation

Incidental Mutation 'R1023:Baz2a'

94647

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

039125-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128091577-128129303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128121807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1010 (T1010A)

Ref Sequence

ENSEMBL: ENSMUSP00000151445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045621] [ENSMUST00000170054] [ENSMUST00000217851] [ENSMUST00000219072] [ENSMUST00000220049]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045621
AA Change: T1007A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: T1007A

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

possibly damaging
Transcript: ENSMUST00000170054
AA Change: T1008A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: T1008A

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

possibly damaging
Transcript: ENSMUST00000217851
AA Change: T1010A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000219072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219980

Predicted Effect

probably benign
Transcript: ENSMUST00000220049
AA Change: T1007A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,066,871	A607V	probably damaging	Het
4930523C07Rik	A	G	1: 160,077,487		probably benign	Het
Ap3d1	A	T	10: 80,714,258	L713Q	probably damaging	Het
Cd163l1	T	A	7: 140,224,463	C484S	possibly damaging	Het
Cdh15	T	C	8: 122,865,200	I608T	probably damaging	Het
Cdkl2	A	T	5: 92,039,286	D40E	possibly damaging	Het
Col9a2	G	A	4: 121,044,010	G118R	unknown	Het
Cryge	C	A	1: 65,050,786	C79F	probably damaging	Het
Dapk1	T	C	13: 60,730,985	L596P	probably damaging	Het
Dqx1	G	A	6: 83,061,089	C486Y	probably damaging	Het
Enam	A	G	5: 88,501,967	Q445R	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gnpat	A	T	8: 124,870,780	D27V	probably benign	Het
Htr5a	A	T	5: 27,842,998	T184S	possibly damaging	Het
Lap3	C	T	5: 45,495,211	P50S	probably benign	Het
Mamdc2	A	T	19: 23,310,907	M589K	probably damaging	Het
Mast4	A	G	13: 102,735,496	S2263P	probably benign	Het
Mef2b	C	T	8: 70,165,597	P109L	possibly damaging	Het
Meltf	T	A	16: 31,884,960	F168L	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Nup205	T	A	6: 35,234,706	F1661I	probably damaging	Het
Olfr187	A	T	16: 59,035,815	N307K	probably benign	Het
Olfr747	A	T	14: 50,681,016	L206H	probably damaging	Het
Plac8	A	T	5: 100,556,581	D83E	probably benign	Het
Pnpt1	T	C	11: 29,141,328		probably benign	Het
Pold2	G	T	11: 5,875,140	Q86K	probably benign	Het
Ptprt	A	G	2: 161,558,943	L1057P	probably damaging	Het
Rev3l	A	G	10: 39,832,639	H2284R	probably damaging	Het
Skint6	A	C	4: 113,238,103	S120A	probably benign	Het
Slc1a7	G	A	4: 108,007,573	V270M	probably damaging	Het
Spata2	A	G	2: 167,485,222	M85T	probably benign	Het
Taf1b	G	T	12: 24,509,559		probably benign	Het
Tert	A	G	13: 73,642,059	N844S	probably benign	Het
Thrap3	G	A	4: 126,180,089	S288L	possibly damaging	Het
Ubap2l	A	G	3: 90,047,873		probably benign	Het
Ubtf	T	C	11: 102,311,450	E197G	possibly damaging	Het
Usp20	G	T	2: 31,007,813	G216W	probably damaging	Het
Wdr60	T	C	12: 116,232,657	E490G	probably damaging	Het
Yy1	T	A	12: 108,793,531	V40E	unknown	Het
Zfp335	G	A	2: 164,892,585	H1254Y	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
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
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'- AGTGGATTGTTGAAGGCCGACTC -3'
(R):5'- CTGCACAGAAACAAGCGGACATTG -3'

Sequencing Primer
(F):5'- CCGGAGGTAGGGACAGGAC -3'
(R):5'- GAAAGGAGAGCTACCAGATCC -3'

Posted On

2014-01-05