Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Baz2b'

306244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Baz2b

Ensembl Gene

ENSMUSG00000026987

Gene Name

bromodomain adjacent to zinc finger domain, 2B

Synonyms

D2Ertd794e, 5830435C13Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

59899363-60209839 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59968658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 374 (S374I)

Ref Sequence

ENSEMBL: ENSMUSP00000108169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090925] [ENSMUST00000112550]

AlphaFold

A2AUY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090925
AA Change: S374I

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088443
Gene: ENSMUSG00000026987
AA Change: S374I

Domain	Start	End	E-Value	Type
low complexity region	7	46	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	147	162	N/A	INTRINSIC
low complexity region	193	244	N/A	INTRINSIC
low complexity region	291	308	N/A	INTRINSIC
low complexity region	366	385	N/A	INTRINSIC
low complexity region	528	540	N/A	INTRINSIC
low complexity region	554	614	N/A	INTRINSIC
low complexity region	628	637	N/A	INTRINSIC
low complexity region	671	685	N/A	INTRINSIC
Pfam:MBD	690	742	1e-12	PFAM
low complexity region	759	774	N/A	INTRINSIC
coiled coil region	814	975	N/A	INTRINSIC
DDT	1004	1069	1.19e-20	SMART
low complexity region	1199	1212	N/A	INTRINSIC
low complexity region	1213	1247	N/A	INTRINSIC
coiled coil region	1251	1286	N/A	INTRINSIC
low complexity region	1320	1337	N/A	INTRINSIC
low complexity region	1503	1524	N/A	INTRINSIC
low complexity region	1569	1582	N/A	INTRINSIC
low complexity region	1585	1605	N/A	INTRINSIC
Blast:BROMO	1802	1843	7e-18	BLAST
PHD	1888	1934	1.71e-12	SMART
low complexity region	1942	1964	N/A	INTRINSIC
low complexity region	1968	1980	N/A	INTRINSIC
BROMO	2013	2121	3.85e-41	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112550
AA Change: S374I

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108169
Gene: ENSMUSG00000026987
AA Change: S374I

Domain	Start	End	E-Value	Type
low complexity region	7	46	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	147	162	N/A	INTRINSIC
low complexity region	193	244	N/A	INTRINSIC
low complexity region	291	308	N/A	INTRINSIC
low complexity region	366	385	N/A	INTRINSIC
low complexity region	528	540	N/A	INTRINSIC
low complexity region	554	614	N/A	INTRINSIC
low complexity region	628	637	N/A	INTRINSIC
low complexity region	671	685	N/A	INTRINSIC
Pfam:MBD	690	741	3.4e-13	PFAM
low complexity region	759	774	N/A	INTRINSIC
coiled coil region	814	975	N/A	INTRINSIC
DDT	1004	1069	1.19e-20	SMART
low complexity region	1199	1212	N/A	INTRINSIC
low complexity region	1213	1247	N/A	INTRINSIC
coiled coil region	1251	1286	N/A	INTRINSIC
low complexity region	1320	1337	N/A	INTRINSIC
low complexity region	1503	1524	N/A	INTRINSIC
low complexity region	1569	1582	N/A	INTRINSIC
low complexity region	1585	1605	N/A	INTRINSIC
Pfam:WHIM3	1638	1676	5.1e-14	PFAM
Blast:BROMO	1802	1843	7e-18	BLAST
PHD	1888	1934	1.71e-12	SMART
low complexity region	1942	1964	N/A	INTRINSIC
low complexity region	1968	1980	N/A	INTRINSIC
BROMO	2013	2121	3.85e-41	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,548,791 (GRCm38)	K884R	probably benign	Het
Ano3	T	A	2: 110,665,984 (GRCm38)		probably benign	Het
Brd4	G	A	17: 32,198,379 (GRCm38)		probably benign	Het
Cd3g	C	A	9: 44,971,310 (GRCm38)		probably benign	Het
Ckmt1	C	T	2: 121,363,615 (GRCm38)		probably benign	Het
Clcnkb	T	C	4: 141,405,362 (GRCm38)		probably null	Het
Dkkl1	C	T	7: 45,210,112 (GRCm38)		probably null	Het
Ehmt1	G	A	2: 24,863,869 (GRCm38)	T161I	probably damaging	Het
Ern2	A	G	7: 122,181,406 (GRCm38)		probably benign	Het
Fmnl2	T	C	2: 53,103,697 (GRCm38)	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,507,991 (GRCm38)	S25Y	probably benign	Het
Gemin7	C	T	7: 19,565,419 (GRCm38)	V84M	probably null	Het
Gm17654	A	G	14: 43,578,199 (GRCm38)		probably benign	Het
Grk6	T	C	13: 55,451,543 (GRCm38)	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,889 (GRCm38)	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,676,512 (GRCm38)	I581F	probably damaging	Het
Herc2	T	A	7: 56,204,379 (GRCm38)		probably benign	Het
Hook3	A	T	8: 26,095,754 (GRCm38)		probably benign	Het
Ints4	T	A	7: 97,517,757 (GRCm38)		probably null	Het
Kpna6	T	C	4: 129,661,377 (GRCm38)	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,978,684 (GRCm38)	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,851,280 (GRCm38)	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,531,683 (GRCm38)	D268G	probably damaging	Het
Mcm6	T	A	1: 128,343,472 (GRCm38)	Q470L	probably damaging	Het
Neb	T	C	2: 52,291,055 (GRCm38)	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,860,375 (GRCm38)	V285L	probably benign	Het
Olfr118	T	A	17: 37,672,609 (GRCm38)	C195*	probably null	Het
Olfr1281	A	G	2: 111,329,288 (GRCm38)	R290G	probably damaging	Het
Olfr307	T	A	7: 86,335,544 (GRCm38)	N284I	probably damaging	Het
Pdcd1	A	G	1: 94,039,544 (GRCm38)		probably benign	Het
Pnkp	A	G	7: 44,860,187 (GRCm38)		probably benign	Het
Pou4f2	A	T	8: 78,435,063 (GRCm38)	F304I	probably damaging	Het
Rita1	G	A	5: 120,609,651 (GRCm38)	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,621,939 (GRCm38)	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,603,164 (GRCm38)	T168A	probably benign	Het
Skint5	T	A	4: 113,539,362 (GRCm38)	M1205L	unknown	Het
Sox13	A	C	1: 133,383,796 (GRCm38)	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,198,491 (GRCm38)	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,633,389 (GRCm38)	P710Q	probably damaging	Het
Trpm5	T	C	7: 143,074,484 (GRCm38)	H1018R	possibly damaging	Het
Ubr2	A	T	17: 46,969,282 (GRCm38)	M647K	probably benign	Het
Ubr7	A	T	12: 102,771,278 (GRCm38)	T395S	possibly damaging	Het
Uri1	G	A	7: 37,967,481 (GRCm38)	R176*	probably null	Het
Vmn1r188	A	T	13: 22,088,730 (GRCm38)	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,397,634 (GRCm38)		probably benign	Het
Vmn2r2	C	A	3: 64,117,402 (GRCm38)	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,582,589 (GRCm38)	W62R	probably benign	Het
Zfp24	A	T	18: 24,017,353 (GRCm38)	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236 (GRCm38)	K1254R	probably null	Het

Other mutations in Baz2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Baz2b	APN	2	59,912,795 (GRCm38)	missense	probably benign	0.02
IGL00476:Baz2b	APN	2	59,913,739 (GRCm38)	missense	probably benign	0.06
IGL00489:Baz2b	APN	2	59,957,675 (GRCm38)	nonsense	probably null
IGL00514:Baz2b	APN	2	59,962,477 (GRCm38)	missense	probably benign	0.11
IGL00678:Baz2b	APN	2	60,006,183 (GRCm38)	missense	unknown
IGL01348:Baz2b	APN	2	59,933,687 (GRCm38)	missense	possibly damaging	0.95
IGL01354:Baz2b	APN	2	59,968,889 (GRCm38)	missense	probably benign	0.18
IGL01924:Baz2b	APN	2	59,935,271 (GRCm38)	missense	probably damaging	1.00
IGL02125:Baz2b	APN	2	59,968,640 (GRCm38)	missense	probably benign	0.12
IGL02314:Baz2b	APN	2	59,962,227 (GRCm38)	missense	probably benign
IGL02370:Baz2b	APN	2	59,923,589 (GRCm38)	missense	possibly damaging	0.77
IGL02473:Baz2b	APN	2	59,960,063 (GRCm38)	missense	probably benign	0.40
IGL02499:Baz2b	APN	2	59,901,496 (GRCm38)	missense	possibly damaging	0.60
IGL02609:Baz2b	APN	2	59,917,369 (GRCm38)	missense	possibly damaging	0.77
IGL02705:Baz2b	APN	2	59,948,260 (GRCm38)	missense	possibly damaging	0.92
IGL02711:Baz2b	APN	2	59,917,505 (GRCm38)	unclassified	probably benign
IGL02716:Baz2b	APN	2	59,962,524 (GRCm38)	missense	possibly damaging	0.53
IGL02724:Baz2b	APN	2	59,977,374 (GRCm38)	missense	possibly damaging	0.70
IGL02869:Baz2b	APN	2	59,977,528 (GRCm38)	missense	probably benign	0.00
IGL02886:Baz2b	APN	2	59,957,743 (GRCm38)	splice site	probably null
IGL02892:Baz2b	APN	2	59,900,736 (GRCm38)	missense	probably damaging	1.00
IGL03132:Baz2b	APN	2	59,907,753 (GRCm38)	splice site	probably benign
IGL03183:Baz2b	APN	2	59,903,296 (GRCm38)	missense	probably benign	0.10
IGL03197:Baz2b	APN	2	59,901,554 (GRCm38)	missense	possibly damaging	0.74
R0054:Baz2b	UTSW	2	59,932,166 (GRCm38)	missense	probably damaging	1.00
R0054:Baz2b	UTSW	2	59,932,166 (GRCm38)	missense	probably damaging	1.00
R0122:Baz2b	UTSW	2	59,913,619 (GRCm38)	splice site	probably null
R0136:Baz2b	UTSW	2	59,901,954 (GRCm38)	missense	probably benign	0.22
R0144:Baz2b	UTSW	2	59,907,495 (GRCm38)	missense	probably damaging	0.98
R0403:Baz2b	UTSW	2	59,969,377 (GRCm38)	missense	possibly damaging	0.70
R0498:Baz2b	UTSW	2	59,901,996 (GRCm38)	unclassified	probably benign
R0528:Baz2b	UTSW	2	59,936,739 (GRCm38)	missense	probably damaging	1.00
R1025:Baz2b	UTSW	2	59,962,482 (GRCm38)	missense	probably benign	0.06
R1470:Baz2b	UTSW	2	59,978,546 (GRCm38)	missense	possibly damaging	0.53
R1470:Baz2b	UTSW	2	59,978,546 (GRCm38)	missense	possibly damaging	0.53
R1510:Baz2b	UTSW	2	59,922,209 (GRCm38)	missense	probably damaging	1.00
R1511:Baz2b	UTSW	2	59,962,024 (GRCm38)	missense	probably benign	0.12
R1514:Baz2b	UTSW	2	59,962,326 (GRCm38)	missense	probably benign	0.13
R1519:Baz2b	UTSW	2	59,948,254 (GRCm38)	missense	possibly damaging	0.50
R1523:Baz2b	UTSW	2	59,968,637 (GRCm38)	missense	possibly damaging	0.47
R1630:Baz2b	UTSW	2	60,006,130 (GRCm38)	missense	unknown
R1641:Baz2b	UTSW	2	59,912,890 (GRCm38)	missense	probably damaging	0.99
R1674:Baz2b	UTSW	2	59,912,992 (GRCm38)	missense	possibly damaging	0.53
R1778:Baz2b	UTSW	2	60,006,136 (GRCm38)	missense	unknown
R1826:Baz2b	UTSW	2	59,968,733 (GRCm38)	missense	probably benign	0.12
R1835:Baz2b	UTSW	2	59,901,819 (GRCm38)	missense	probably benign	0.02
R1954:Baz2b	UTSW	2	59,968,743 (GRCm38)	missense	probably benign	0.12
R1981:Baz2b	UTSW	2	59,923,680 (GRCm38)	missense	possibly damaging	0.95
R2029:Baz2b	UTSW	2	59,912,723 (GRCm38)	unclassified	probably benign
R2567:Baz2b	UTSW	2	59,913,911 (GRCm38)	missense	possibly damaging	0.82
R2842:Baz2b	UTSW	2	59,913,004 (GRCm38)	missense	probably benign	0.27
R2848:Baz2b	UTSW	2	59,924,666 (GRCm38)	missense	possibly damaging	0.64
R3809:Baz2b	UTSW	2	59,968,896 (GRCm38)	missense	probably benign	0.12
R3935:Baz2b	UTSW	2	59,912,761 (GRCm38)	missense	possibly damaging	0.81
R3936:Baz2b	UTSW	2	59,912,761 (GRCm38)	missense	possibly damaging	0.81
R4072:Baz2b	UTSW	2	59,912,573 (GRCm38)	splice site	probably null
R4182:Baz2b	UTSW	2	60,098,457 (GRCm38)	intron	probably benign
R4255:Baz2b	UTSW	2	59,920,572 (GRCm38)	unclassified	probably benign
R4359:Baz2b	UTSW	2	59,901,613 (GRCm38)	missense	possibly damaging	0.87
R4716:Baz2b	UTSW	2	59,969,255 (GRCm38)	missense	probably benign	0.06
R4743:Baz2b	UTSW	2	59,913,911 (GRCm38)	missense	probably benign	0.01
R4772:Baz2b	UTSW	2	59,958,451 (GRCm38)	missense	probably damaging	0.96
R4858:Baz2b	UTSW	2	59,907,743 (GRCm38)	missense	probably benign
R4868:Baz2b	UTSW	2	59,924,882 (GRCm38)	missense	possibly damaging	0.65
R4872:Baz2b	UTSW	2	59,942,759 (GRCm38)	splice site	probably null
R4889:Baz2b	UTSW	2	59,936,726 (GRCm38)	missense	probably damaging	1.00
R4890:Baz2b	UTSW	2	59,926,039 (GRCm38)	missense	probably damaging	0.99
R4914:Baz2b	UTSW	2	59,914,043 (GRCm38)	missense	possibly damaging	0.70
R4915:Baz2b	UTSW	2	59,914,043 (GRCm38)	missense	possibly damaging	0.70
R4918:Baz2b	UTSW	2	59,914,043 (GRCm38)	missense	possibly damaging	0.70
R5027:Baz2b	UTSW	2	60,098,644 (GRCm38)	intron	probably benign
R5031:Baz2b	UTSW	2	59,912,807 (GRCm38)	missense	probably benign	0.00
R5082:Baz2b	UTSW	2	59,901,491 (GRCm38)	nonsense	probably null
R5133:Baz2b	UTSW	2	59,962,024 (GRCm38)	missense	probably benign	0.12
R5276:Baz2b	UTSW	2	59,962,614 (GRCm38)	missense	probably benign	0.40
R5279:Baz2b	UTSW	2	59,932,152 (GRCm38)	missense	probably damaging	1.00
R5294:Baz2b	UTSW	2	59,978,602 (GRCm38)	missense	probably benign	0.11
R5447:Baz2b	UTSW	2	59,913,988 (GRCm38)	missense	probably damaging	0.99
R5903:Baz2b	UTSW	2	59,959,889 (GRCm38)	missense	probably damaging	0.99
R5910:Baz2b	UTSW	2	59,977,426 (GRCm38)	missense	possibly damaging	0.88
R6140:Baz2b	UTSW	2	59,912,527 (GRCm38)	missense	probably damaging	0.99
R6195:Baz2b	UTSW	2	59,907,511 (GRCm38)	missense	possibly damaging	0.89
R6199:Baz2b	UTSW	2	59,978,675 (GRCm38)	missense	probably benign	0.00
R6208:Baz2b	UTSW	2	59,924,806 (GRCm38)	missense	probably damaging	1.00
R6233:Baz2b	UTSW	2	59,907,511 (GRCm38)	missense	possibly damaging	0.89
R6276:Baz2b	UTSW	2	59,948,223 (GRCm38)	missense	probably damaging	1.00
R6324:Baz2b	UTSW	2	59,906,948 (GRCm38)	missense	probably damaging	1.00
R6490:Baz2b	UTSW	2	59,901,729 (GRCm38)	missense	probably damaging	1.00
R6578:Baz2b	UTSW	2	59,969,279 (GRCm38)	missense	possibly damaging	0.47
R6720:Baz2b	UTSW	2	59,924,890 (GRCm38)	missense	probably damaging	1.00
R6760:Baz2b	UTSW	2	59,962,432 (GRCm38)	missense	probably benign	0.40
R6836:Baz2b	UTSW	2	59,917,425 (GRCm38)	missense	probably damaging	1.00
R6859:Baz2b	UTSW	2	59,901,530 (GRCm38)	missense	probably benign	0.01
R6880:Baz2b	UTSW	2	59,912,939 (GRCm38)	missense	probably damaging	0.99
R6916:Baz2b	UTSW	2	59,968,776 (GRCm38)	missense	probably benign
R6978:Baz2b	UTSW	2	59,907,715 (GRCm38)	missense	possibly damaging	0.84
R7037:Baz2b	UTSW	2	59,933,670 (GRCm38)	critical splice donor site	probably null
R7112:Baz2b	UTSW	2	59,962,184 (GRCm38)	missense	possibly damaging	0.53
R7117:Baz2b	UTSW	2	59,912,497 (GRCm38)	missense
R7198:Baz2b	UTSW	2	59,962,206 (GRCm38)	missense	probably benign	0.00
R7270:Baz2b	UTSW	2	59,962,492 (GRCm38)	missense	possibly damaging	0.96
R7282:Baz2b	UTSW	2	59,920,437 (GRCm38)	missense	probably benign	0.17
R7464:Baz2b	UTSW	2	59,977,448 (GRCm38)	missense	possibly damaging	0.53
R7609:Baz2b	UTSW	2	59,962,473 (GRCm38)	missense	probably benign	0.40
R7703:Baz2b	UTSW	2	59,917,425 (GRCm38)	missense	probably damaging	1.00
R7850:Baz2b	UTSW	2	59,936,716 (GRCm38)	missense	probably damaging	0.98
R7851:Baz2b	UTSW	2	59,936,716 (GRCm38)	missense	probably damaging	0.98
R7988:Baz2b	UTSW	2	59,962,141 (GRCm38)	missense	possibly damaging	0.53
R8079:Baz2b	UTSW	2	59,900,768 (GRCm38)	missense	probably damaging	1.00
R8084:Baz2b	UTSW	2	59,962,236 (GRCm38)	missense	probably benign
R8343:Baz2b	UTSW	2	59,901,514 (GRCm38)	missense	probably damaging	1.00
R8348:Baz2b	UTSW	2	59,911,793 (GRCm38)	missense
R8438:Baz2b	UTSW	2	59,917,484 (GRCm38)	nonsense	probably null
R8448:Baz2b	UTSW	2	59,911,793 (GRCm38)	missense
R8511:Baz2b	UTSW	2	59,901,814 (GRCm38)	missense	probably benign
R8893:Baz2b	UTSW	2	59,924,805 (GRCm38)	missense	probably damaging	0.96
R8947:Baz2b	UTSW	2	59,948,239 (GRCm38)	missense	probably benign	0.06
R8998:Baz2b	UTSW	2	59,969,264 (GRCm38)	missense	probably benign	0.02
R9241:Baz2b	UTSW	2	59,913,649 (GRCm38)	missense	probably benign	0.01
R9245:Baz2b	UTSW	2	59,912,987 (GRCm38)	missense	probably benign
R9577:Baz2b	UTSW	2	59,978,687 (GRCm38)	missense	probably benign	0.06
R9581:Baz2b	UTSW	2	59,968,956 (GRCm38)	missense	probably benign
R9601:Baz2b	UTSW	2	59,901,503 (GRCm38)	missense	possibly damaging	0.66
R9613:Baz2b	UTSW	2	59,901,480 (GRCm38)	missense	probably benign	0.09
R9639:Baz2b	UTSW	2	59,901,484 (GRCm38)	missense	probably benign	0.01
X0011:Baz2b	UTSW	2	59,977,361 (GRCm38)	missense	possibly damaging	0.53
X0053:Baz2b	UTSW	2	59,900,675 (GRCm38)	missense	probably damaging	1.00
X0064:Baz2b	UTSW	2	59,969,282 (GRCm38)	missense	probably benign
Z1088:Baz2b	UTSW	2	59,960,015 (GRCm38)	missense	probably damaging	1.00
Z1177:Baz2b	UTSW	2	59,977,520 (GRCm38)	missense	probably benign	0.01
Z1188:Baz2b	UTSW	2	59,977,405 (GRCm38)	missense	probably benign

Posted On

2015-04-16