Mutagenetix > Incidental Mutation

Incidental Mutation 'R4717:Baz2a'

354146

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

041984-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128091577-128129303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128124942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1537 (C1537F)

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

possibly damaging
Transcript: ENSMUST00000045621
AA Change: C1537F

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: C1537F

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: C1538F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: C1538F

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: C1540F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220049
AA Change: C1537F

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,221,787	L60P	probably damaging	Het
Acsf2	T	G	11: 94,559,546	M512L	probably benign	Het
Ahrr	T	A	13: 74,215,766	H312L	probably benign	Het
Akr1c18	T	C	13: 4,136,718	M244V	probably benign	Het
Aldh3b2	A	G	19: 3,981,128	Y459C	probably damaging	Het
Arhgap29	A	T	3: 122,009,958	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,741,658	D287V	probably damaging	Het
Astn2	A	T	4: 65,644,754	I930N	possibly damaging	Het
Bace2	T	A	16: 97,436,873	L508Q	probably damaging	Het
Cad	A	G	5: 31,066,686		probably null	Het
Capn5	A	T	7: 98,123,919	I626N	probably benign	Het
Car8	A	T	4: 8,169,685	N274K	probably damaging	Het
Casp14	T	C	10: 78,715,124	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,916,666	V1649A	probably benign	Het
Cemip	A	T	7: 83,947,280	I1092N	probably damaging	Het
Clspn	A	G	4: 126,560,056	N91D	probably damaging	Het
Cpxm2	A	G	7: 132,054,845	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,637,915	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,352,026		probably null	Het
Cyp4x1	T	C	4: 115,121,705	H206R	probably benign	Het
Dapk1	T	A	13: 60,726,662		probably null	Het
Ddx1	A	G	12: 13,240,887	W76R	probably damaging	Het
Dhx29	G	A	13: 112,946,935	R508H	unknown	Het
Dnah2	T	C	11: 69,429,357	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,806,244	C12S	possibly damaging	Het
Dock1	T	C	7: 134,848,170	I804T	probably damaging	Het
Efs	G	T	14: 54,920,344	S170Y	probably damaging	Het
Eml4	G	T	17: 83,448,225	W295C	probably benign	Het
Fkbp15	A	G	4: 62,308,069	S748P	probably damaging	Het
Ghr	T	G	15: 3,319,753	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,525,232	I942N	probably damaging	Het
Gm960	A	G	19: 4,625,873		probably benign	Het
Gpam	T	A	19: 55,075,614	E682D	probably benign	Het
Gsr	A	T	8: 33,693,858	K383*	probably null	Het
Hapln1	C	A	13: 89,605,460	S248R	probably benign	Het
Haus2	G	T	2: 120,619,102	R209L	probably benign	Het
Hhatl	A	G	9: 121,789,877	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,619,065	M4091T	probably benign	Het
Hspb7	A	G	4: 141,422,585	D94G	probably damaging	Het
Irf6	T	A	1: 193,167,434		probably null	Het
Itgb2	T	A	10: 77,546,044	L60*	probably null	Het
Jmjd1c	C	T	10: 67,158,051	Q104*	probably null	Het
Kcnh1	A	G	1: 192,276,717	D193G	probably damaging	Het
Klhl25	G	T	7: 75,866,780	C478F	probably damaging	Het
Klhl3	T	C	13: 58,030,516	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,455,713	H80Q	probably null	Het
Lhcgr	C	A	17: 88,742,467	V544F	probably benign	Het
Mfsd4a	T	C	1: 132,057,895	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,643,252	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394	A562V	possibly damaging	Het
Nid1	T	C	13: 13,506,501	V1072A	probably benign	Het
Nsf	T	G	11: 103,823,769	K728T	probably damaging	Het
Olfr1328	T	C	4: 118,934,429	N140D	probably benign	Het
Olfr23	T	A	11: 73,940,815	S190T	possibly damaging	Het
Olfr448	T	C	6: 42,897,224	Y258H	probably damaging	Het
Olfr530	T	C	7: 140,373,415	N65S	probably damaging	Het
Olfr725	A	T	14: 50,035,364	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,525,267	C894S	probably damaging	Het
Pde2a	A	G	7: 101,494,672	D166G	probably benign	Het
Pfpl	G	A	19: 12,429,254	E290K	probably benign	Het
Pi4kb	A	C	3: 94,998,851	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,157,419	C1727*	probably null	Het
Poln	A	T	5: 34,129,448	D125E	possibly damaging	Het
Pomgnt1	A	G	4: 116,154,215	D259G	possibly damaging	Het
Prx	A	T	7: 27,516,727	M218L	probably benign	Het
Pxn	A	T	5: 115,551,942	Q342L	probably damaging	Het
Rhpn2	A	G	7: 35,334,350	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,162,717	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,353,626	T142K	probably damaging	Het
Sacs	T	C	14: 61,212,855	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,854,369	N700S	probably damaging	Het
Sec62	A	C	3: 30,809,871	K101Q	unknown	Het
Sel1l2	A	C	2: 140,230,023	L659R	possibly damaging	Het
Sept11	A	G	5: 93,156,956	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,189,457	E112K	probably damaging	Het
Spem2	T	C	11: 69,817,783	N119D	probably benign	Het
Themis	G	A	10: 28,789,752	E604K	probably benign	Het
Tie1	T	C	4: 118,486,217	K150E	probably damaging	Het
Ubap2	G	A	4: 41,218,333	T258I	possibly damaging	Het
Ushbp1	C	T	8: 71,385,669	A664T	probably damaging	Het
Vmn1r1	T	C	1: 182,157,209	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,703,212	I291L	probably damaging	Het
Yy1	A	G	12: 108,794,046	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,408,229	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,241,872	H632L	probably 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
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
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'- GATCTGCAGATTCGGGTACC -3'
(R):5'- TCAGTAGGGCCTTCTCCACTAC -3'

Sequencing Primer
(F):5'- ATTGTGAACCCCATGACGTG -3'
(R):5'- CCACCTCATGGGCTGCC -3'

Posted On

2015-10-21