Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Baz2a'

578650

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128091577-128129303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128122073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1069 (D1069E)

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: D1066E

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

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: D1066E

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: D1067E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: D1067E

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: D1069E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000219072

Predicted Effect

probably benign
Transcript: ENSMUST00000220049
AA Change: D1066E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,153	G736R	possibly damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Ankar	A	T	1: 72,698,894	V43E	possibly damaging	Het
Apof	A	G	10: 128,269,636	I220V	probably benign	Het
Asxl1	G	T	2: 153,397,785	A499S	probably benign	Het
Baz2b	T	C	2: 59,977,448	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,317,157	R169W	unknown	Het
C5ar1	T	A	7: 16,248,766	I110L	probably benign	Het
C87414	C	T	5: 93,636,240	C455Y	probably damaging	Het
Cd19	C	A	7: 126,411,803	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,196,675	C113*	probably null	Het
Cngb1	C	A	8: 95,254,183	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,504,144	K445E	probably damaging	Het
Crebrf	A	G	17: 26,763,487	M608V	unknown	Het
Csf1	T	A	3: 107,748,875	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,345,120	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,613,785	H1089Y	probably damaging	Het
Ddx60	C	T	8: 61,940,674	T48M	possibly damaging	Het
Dock10	T	C	1: 80,540,315	D1315G	probably damaging	Het
Dock2	T	G	11: 34,695,278	N526H	probably damaging	Het
Dram2	T	C	3: 106,573,683	*268Q	probably null	Het
Emc8	A	G	8: 120,667,918	Y21H	possibly damaging	Het
Fam162a	A	G	16: 36,071,493	L4P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,853,298	I307N	probably benign	Het
Fbxw16	A	G	9: 109,439,551	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,573,247		probably null	Het
Galnt7	A	G	8: 57,584,020	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Gm10696	A	T	3: 94,176,104	N133K	probably benign	Het
Gm15292	T	A	8: 21,249,894	S45T	probably damaging	Het
Gm28729	A	G	9: 96,521,235	I44T	possibly damaging	Het
Gm5447	A	G	13: 30,974,394	I34V	not run	Het
H2-M9	A	T	17: 36,642,411		probably null	Het
Helz	G	A	11: 107,636,278	C864Y	probably damaging	Het
Il25	A	G	14: 54,933,222	Y84C	probably null	Het
Itga10	T	A	3: 96,648,155	C142S	probably damaging	Het
Kcna10	A	T	3: 107,194,079	M9L	probably damaging	Het
Klhl6	G	T	16: 19,957,113	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,929,546	I40L	possibly damaging	Het
Mdm1	T	C	10: 118,152,266	S334P	probably benign	Het
Mllt10	T	A	2: 18,170,279	D549E	probably benign	Het
Mlxipl	T	C	5: 135,133,628	V648A	probably benign	Het
Nars2	A	G	7: 97,039,930	K353R	probably benign	Het
Nav1	T	A	1: 135,584,909	M138L	probably benign	Het
Neb	T	C	2: 52,193,890	T5635A	probably benign	Het
Nktr	A	C	9: 121,750,327	I1154L	unknown	Het
Olfr1284	T	A	2: 111,379,198	L66Q	probably damaging	Het
Olfr47	T	G	6: 43,236,294	S229A	probably damaging	Het
Olfr761	A	T	17: 37,952,280	V248D	probably damaging	Het
Oxld1	T	C	11: 120,457,137	D78G	probably benign	Het
Pde1b	T	C	15: 103,524,829	I255T	probably benign	Het
Pkp4	T	A	2: 59,308,137	F244I	probably benign	Het
Polg2	C	A	11: 106,773,714	V305L	probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sash1	T	C	10: 8,756,745	D242G	possibly damaging	Het
Six4	T	C	12: 73,112,530	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,563,021	Y562*	probably null	Het
Soat1	A	T	1: 156,439,317	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Spef2	T	C	15: 9,740,585	N30D	probably benign	Het
Srebf2	T	A	15: 82,172,874	I270N	probably damaging	Het
St8sia3	T	C	18: 64,271,518	W289R	probably damaging	Het
Stx5a	T	A	19: 8,743,504		probably benign	Het
Tacc1	T	C	8: 25,164,464	D689G	probably damaging	Het
Tacc3	A	G	5: 33,661,284	D21G	probably benign	Het
Tapt1	G	A	5: 44,188,688	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,131,485	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,470,664	R225K	probably benign	Het
Thumpd3	G	A	6: 113,055,769	G156D	probably benign	Het
Tmem178	C	T	17: 80,944,902	P72S	probably benign	Het
Tmem52	C	T	4: 155,469,469	P46S	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,326,829	V269D	probably benign	Het
Ubr1	A	G	2: 120,889,774		probably null	Het
Upf1	G	A	8: 70,333,423	S962L	probably benign	Het
Vcpip1	C	T	1: 9,746,520	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,988,893	S151R	probably benign	Het
Wac	T	C	18: 7,871,746		probably null	Het
Wrn	C	T	8: 33,335,996		probably null	Het
Zfp286	C	A	11: 62,780,801	D149Y	probably benign	Het
Zfp748	A	G	13: 67,541,972	C390R	probably damaging	Het
Zfp873	A	G	10: 82,060,376	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,551,487	D656N	probably benign	Het
Zmym1	T	A	4: 127,058,935	K18*	probably null	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
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
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'- CTCGGATCATGGAGGAAACC -3'
(R):5'- CTGACGCTGGGTAGGAAATG -3'

Sequencing Primer
(F):5'- TCATGGAGGAAACCAGTGGC -3'
(R):5'- CATGGCATGATGGACTTCAGTACC -3'

Posted On

2019-10-07