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, Walp3, Tip5

MMRRC Submission

041984-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4717 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127927453-127965172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127960811 bp (GRCm39)

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: 29,097,783 (GRCm39)	L60P	probably damaging	Het
Acsf2	T	G	11: 94,450,372 (GRCm39)	M512L	probably benign	Het
Ahrr	T	A	13: 74,363,885 (GRCm39)	H312L	probably benign	Het
Akr1c18	T	C	13: 4,186,717 (GRCm39)	M244V	probably benign	Het
Aldh3b2	A	G	19: 4,031,128 (GRCm39)	Y459C	probably damaging	Het
Arhgap29	A	T	3: 121,803,607 (GRCm39)	I796L	possibly damaging	Het
Arrdc4	T	A	7: 68,391,406 (GRCm39)	D287V	probably damaging	Het
Astn2	A	T	4: 65,562,991 (GRCm39)	I930N	possibly damaging	Het
Bace2	T	A	16: 97,238,073 (GRCm39)	L508Q	probably damaging	Het
Cad	A	G	5: 31,224,030 (GRCm39)		probably null	Het
Capn5	A	T	7: 97,773,126 (GRCm39)	I626N	probably benign	Het
Car8	A	T	4: 8,169,685 (GRCm39)	N274K	probably damaging	Het
Casp14	T	C	10: 78,550,958 (GRCm39)	I76V	probably benign	Het
Ccdc88c	A	G	12: 100,882,925 (GRCm39)	V1649A	probably benign	Het
Cemip	A	T	7: 83,596,488 (GRCm39)	I1092N	probably damaging	Het
Clspn	A	G	4: 126,453,849 (GRCm39)	N91D	probably damaging	Het
Cpxm2	A	G	7: 131,656,574 (GRCm39)	Y563H	possibly damaging	Het
Csnk1g2	T	C	10: 80,473,749 (GRCm39)	V72A	probably benign	Het
Cyp46a1	T	C	12: 108,318,285 (GRCm39)		probably null	Het
Cyp4x1	T	C	4: 114,978,902 (GRCm39)	H206R	probably benign	Het
Dapk1	T	A	13: 60,874,476 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,290,888 (GRCm39)	W76R	probably damaging	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah2	T	C	11: 69,320,183 (GRCm39)	D3962G	probably benign	Het
Dnajc14	T	A	10: 128,642,113 (GRCm39)	C12S	possibly damaging	Het
Dock1	T	C	7: 134,449,899 (GRCm39)	I804T	probably damaging	Het
Efs	G	T	14: 55,157,801 (GRCm39)	S170Y	probably damaging	Het
Eml4	G	T	17: 83,755,654 (GRCm39)	W295C	probably benign	Het
Fkbp15	A	G	4: 62,226,306 (GRCm39)	S748P	probably damaging	Het
Ghr	T	G	15: 3,349,235 (GRCm39)	I648L	possibly damaging	Het
Gigyf1	T	A	5: 137,523,494 (GRCm39)	I942N	probably damaging	Het
Gpam	T	A	19: 55,064,046 (GRCm39)	E682D	probably benign	Het
Gsr	A	T	8: 34,183,886 (GRCm39)	K383*	probably null	Het
Hapln1	C	A	13: 89,753,579 (GRCm39)	S248R	probably benign	Het
Haus2	G	T	2: 120,449,583 (GRCm39)	R209L	probably benign	Het
Hhatl	A	G	9: 121,618,943 (GRCm39)	F63S	probably damaging	Het
Hmcn1	A	G	1: 150,494,816 (GRCm39)	M4091T	probably benign	Het
Hspb7	A	G	4: 141,149,896 (GRCm39)	D94G	probably damaging	Het
Irf6	T	A	1: 192,849,742 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,381,878 (GRCm39)	L60*	probably null	Het
Jmjd1c	C	T	10: 66,993,830 (GRCm39)	Q104*	probably null	Het
Kcnh1	A	G	1: 191,959,025 (GRCm39)	D193G	probably damaging	Het
Klhl25	G	T	7: 75,516,528 (GRCm39)	C478F	probably damaging	Het
Klhl3	T	C	13: 58,178,330 (GRCm39)	D267G	probably damaging	Het
L3mbtl4	T	G	17: 68,762,708 (GRCm39)	H80Q	probably null	Het
Lhcgr	C	A	17: 89,049,895 (GRCm39)	V544F	probably benign	Het
Mfsd4a	T	C	1: 131,985,633 (GRCm39)	N168D	probably benign	Het
Mmp3	A	G	9: 7,449,881 (GRCm39)	Q255R	possibly damaging	Het
Mrgprb3	C	A	7: 48,293,000 (GRCm39)	G184C	probably benign	Het
Mtpap	C	T	18: 4,396,394 (GRCm39)	A562V	possibly damaging	Het
Nid1	T	C	13: 13,681,086 (GRCm39)	V1072A	probably benign	Het
Nsf	T	G	11: 103,714,595 (GRCm39)	K728T	probably damaging	Het
Or10ak7	T	C	4: 118,791,626 (GRCm39)	N140D	probably benign	Het
Or12j3	T	C	7: 139,953,328 (GRCm39)	N65S	probably damaging	Het
Or1e17	T	A	11: 73,831,641 (GRCm39)	S190T	possibly damaging	Het
Or2a5	T	C	6: 42,874,158 (GRCm39)	Y258H	probably damaging	Het
Or4k15b	A	T	14: 50,272,821 (GRCm39)	V13E	probably damaging	Het
Pcsk5	A	T	19: 17,502,631 (GRCm39)	C894S	probably damaging	Het
Pde2a	A	G	7: 101,143,879 (GRCm39)	D166G	probably benign	Het
Pfpl	G	A	19: 12,406,618 (GRCm39)	E290K	probably benign	Het
Pi4kb	A	C	3: 94,906,162 (GRCm39)	I570L	probably damaging	Het
Plxnb2	A	T	15: 89,041,622 (GRCm39)	C1727*	probably null	Het
Poln	A	T	5: 34,286,792 (GRCm39)	D125E	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,412 (GRCm39)	D259G	possibly damaging	Het
Prx	A	T	7: 27,216,152 (GRCm39)	M218L	probably benign	Het
Pxn	A	T	5: 115,690,001 (GRCm39)	Q342L	probably damaging	Het
Rhpn2	A	G	7: 35,033,775 (GRCm39)	D3G	possibly damaging	Het
Rnase2b	C	T	14: 51,400,174 (GRCm39)	T85I	possibly damaging	Het
Rnaseh2b	C	A	14: 62,591,075 (GRCm39)	T142K	probably damaging	Het
Sacs	T	C	14: 61,450,304 (GRCm39)	S4117P	probably damaging	Het
Sdk2	T	C	11: 113,745,195 (GRCm39)	N700S	probably damaging	Het
Sec62	A	C	3: 30,864,020 (GRCm39)	K101Q	unknown	Het
Sel1l2	A	C	2: 140,071,943 (GRCm39)	L659R	possibly damaging	Het
Septin11	A	G	5: 93,304,815 (GRCm39)	I211V	possibly damaging	Het
Slc25a42	C	T	8: 70,642,107 (GRCm39)	E112K	probably damaging	Het
Spem2	T	C	11: 69,708,609 (GRCm39)	N119D	probably benign	Het
Themis	G	A	10: 28,665,748 (GRCm39)	E604K	probably benign	Het
Tie1	T	C	4: 118,343,414 (GRCm39)	K150E	probably damaging	Het
Top6bl	A	G	19: 4,675,901 (GRCm39)		probably benign	Het
Ubap2	G	A	4: 41,218,333 (GRCm39)	T258I	possibly damaging	Het
Ushbp1	C	T	8: 71,838,313 (GRCm39)	A664T	probably damaging	Het
Vmn1r1	T	C	1: 181,984,774 (GRCm39)	N297S	possibly damaging	Het
Vmn1r173	A	C	7: 23,402,637 (GRCm39)	I291L	probably damaging	Het
Yy1	A	G	12: 108,759,972 (GRCm39)	I212V	possibly damaging	Het
Zfp442	A	T	2: 150,250,149 (GRCm39)	F527L	probably damaging	Het
Zyg11b	T	A	4: 108,099,069 (GRCm39)	H632L	probably damaging	Het

Other mutations in Baz2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Baz2a	APN	10	127,960,804 (GRCm39)	missense	probably benign	0.00
IGL00501:Baz2a	APN	10	127,950,494 (GRCm39)	missense	probably benign	0.14
IGL00743:Baz2a	APN	10	127,950,395 (GRCm39)	missense	probably benign
IGL01362:Baz2a	APN	10	127,957,833 (GRCm39)	missense	probably damaging	0.98
IGL01394:Baz2a	APN	10	127,954,514 (GRCm39)	missense	possibly damaging	0.46
IGL01603:Baz2a	APN	10	127,947,037 (GRCm39)	missense	probably damaging	0.98
IGL02165:Baz2a	APN	10	127,955,218 (GRCm39)	missense	probably benign	0.03
IGL02732:Baz2a	APN	10	127,961,044 (GRCm39)	missense	possibly damaging	0.66
IGL03030:Baz2a	APN	10	127,961,015 (GRCm39)	missense	possibly damaging	0.62
IGL03087:Baz2a	APN	10	127,958,182 (GRCm39)	missense	probably damaging	0.99
R0255:Baz2a	UTSW	10	127,950,508 (GRCm39)	missense	possibly damaging	0.66
R0737:Baz2a	UTSW	10	127,951,949 (GRCm39)	missense	possibly damaging	0.92
R0742:Baz2a	UTSW	10	127,949,535 (GRCm39)	nonsense	probably null
R0755:Baz2a	UTSW	10	127,955,560 (GRCm39)	missense	possibly damaging	0.92
R0798:Baz2a	UTSW	10	127,962,192 (GRCm39)	splice site	probably benign
R0879:Baz2a	UTSW	10	127,957,173 (GRCm39)	missense	probably damaging	0.99
R1023:Baz2a	UTSW	10	127,957,676 (GRCm39)	missense	possibly damaging	0.66
R1482:Baz2a	UTSW	10	127,944,877 (GRCm39)	missense	possibly damaging	0.92
R1512:Baz2a	UTSW	10	127,960,021 (GRCm39)	missense	possibly damaging	0.95
R1658:Baz2a	UTSW	10	127,960,252 (GRCm39)	missense	probably benign	0.04
R1983:Baz2a	UTSW	10	127,959,828 (GRCm39)	missense	probably benign	0.14
R2059:Baz2a	UTSW	10	127,949,447 (GRCm39)	missense	probably damaging	0.98
R2141:Baz2a	UTSW	10	127,959,481 (GRCm39)	missense	probably damaging	1.00
R2921:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R2922:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3104:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3105:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3106:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3621:Baz2a	UTSW	10	127,960,946 (GRCm39)	frame shift	probably null
R3872:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R3873:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R3875:Baz2a	UTSW	10	127,959,979 (GRCm39)	missense	probably damaging	1.00
R4600:Baz2a	UTSW	10	127,957,052 (GRCm39)	missense	probably damaging	0.97
R4692:Baz2a	UTSW	10	127,960,762 (GRCm39)	missense	probably damaging	1.00
R4821:Baz2a	UTSW	10	127,946,978 (GRCm39)	missense	probably damaging	1.00
R4832:Baz2a	UTSW	10	127,958,999 (GRCm39)	missense	probably benign	0.08
R4893:Baz2a	UTSW	10	127,959,284 (GRCm39)	missense	possibly damaging	0.66
R4907:Baz2a	UTSW	10	127,946,677 (GRCm39)	missense	probably damaging	0.99
R5133:Baz2a	UTSW	10	127,951,995 (GRCm39)	missense	probably damaging	1.00
R5340:Baz2a	UTSW	10	127,950,911 (GRCm39)	missense	probably damaging	1.00
R5527:Baz2a	UTSW	10	127,960,786 (GRCm39)	missense	probably damaging	1.00
R5761:Baz2a	UTSW	10	127,955,559 (GRCm39)	missense	possibly damaging	0.66
R5891:Baz2a	UTSW	10	127,957,191 (GRCm39)	missense	probably damaging	1.00
R6088:Baz2a	UTSW	10	127,950,511 (GRCm39)	small deletion	probably benign
R6089:Baz2a	UTSW	10	127,950,511 (GRCm39)	small deletion	probably benign
R6323:Baz2a	UTSW	10	127,962,286 (GRCm39)	missense	probably benign	0.21
R6894:Baz2a	UTSW	10	127,959,450 (GRCm39)	missense	possibly damaging	0.81
R7101:Baz2a	UTSW	10	127,957,056 (GRCm39)	missense	possibly damaging	0.66
R7178:Baz2a	UTSW	10	127,960,326 (GRCm39)	missense	probably damaging	0.98
R7179:Baz2a	UTSW	10	127,960,326 (GRCm39)	missense	probably damaging	0.98
R7202:Baz2a	UTSW	10	127,954,428 (GRCm39)	missense	possibly damaging	0.54
R7223:Baz2a	UTSW	10	127,948,475 (GRCm39)	missense	probably damaging	1.00
R7268:Baz2a	UTSW	10	127,960,090 (GRCm39)	missense	possibly damaging	0.66
R7426:Baz2a	UTSW	10	127,951,947 (GRCm39)	missense	probably damaging	1.00
R7464:Baz2a	UTSW	10	127,957,942 (GRCm39)	missense	possibly damaging	0.81
R7568:Baz2a	UTSW	10	127,961,139 (GRCm39)	missense	possibly damaging	0.83
R7672:Baz2a	UTSW	10	127,959,726 (GRCm39)	missense	possibly damaging	0.90
R7948:Baz2a	UTSW	10	127,961,194 (GRCm39)	missense	possibly damaging	0.94
R7993:Baz2a	UTSW	10	127,961,491 (GRCm39)	missense	probably benign	0.27
R8013:Baz2a	UTSW	10	127,961,161 (GRCm39)	missense	possibly damaging	0.92
R8013:Baz2a	UTSW	10	127,961,157 (GRCm39)	missense	probably benign	0.09
R8274:Baz2a	UTSW	10	127,957,716 (GRCm39)	missense	probably benign	0.04
R9034:Baz2a	UTSW	10	127,952,268 (GRCm39)	missense	probably damaging	0.99
R9070:Baz2a	UTSW	10	127,958,931 (GRCm39)	missense	probably benign	0.02
R9245:Baz2a	UTSW	10	127,957,812 (GRCm39)	missense	probably benign
R9329:Baz2a	UTSW	10	127,960,925 (GRCm39)	missense	possibly damaging	0.90
R9472:Baz2a	UTSW	10	127,948,624 (GRCm39)	missense	probably benign	0.00
RF016:Baz2a	UTSW	10	127,961,185 (GRCm39)	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