Mutagenetix > Incidental Mutation

Incidental Mutation 'R3936:Baz2b'

307161

Institutional Source

Beutler Lab

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: 0.287) question?

Stock #

R3936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59729707-60040183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59743105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1622 (V1622A)

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: V1622A

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088443
Gene: ENSMUSG00000026987
AA Change: V1622A

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: V1622A

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108169
Gene: ENSMUSG00000026987
AA Change: V1622A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130637

SMART Domains

Protein: ENSMUSP00000119690
Gene: ENSMUSG00000026987

Domain	Start	End	E-Value	Type
Pfam:WHIM3	2	37	1.8e-13	PFAM
low complexity region	162	173	N/A	INTRINSIC
PHD	214	253	2.05e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152639

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	C	T	12: 53,187,227 (GRCm39)	T1547M	possibly damaging	Het
Alk	T	A	17: 72,512,949 (GRCm39)	I337F	probably damaging	Het
Ank3	A	T	10: 69,715,819 (GRCm39)	K491*	probably null	Het
Arx	T	A	X: 92,340,975 (GRCm39)	L554Q	probably damaging	Het
Axdnd1	T	C	1: 156,159,209 (GRCm39)	N203S	probably benign	Het
Btnl6	T	A	17: 34,736,316 (GRCm39)	H4L	probably benign	Het
Dync2h1	C	A	9: 7,001,482 (GRCm39)	L3835F	probably damaging	Het
Fcgbp	T	C	7: 27,774,824 (GRCm39)	F133L	probably benign	Het
Fnip1	A	G	11: 54,371,065 (GRCm39)		probably null	Het
G6pc1	A	G	11: 101,265,429 (GRCm39)	I154V	probably benign	Het
Golgb1	G	T	16: 36,734,418 (GRCm39)	E1222*	probably null	Het
Gpr85	A	G	6: 13,836,044 (GRCm39)	F287L	probably benign	Het
Gzmk	A	T	13: 113,309,559 (GRCm39)	S164T	probably damaging	Het
Il22ra2	T	A	10: 19,507,456 (GRCm39)	S156R	probably benign	Het
Kansl1	A	T	11: 104,234,369 (GRCm39)	D712E	possibly damaging	Het
Mc3r	T	A	2: 172,091,216 (GRCm39)	I146N	probably damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mitf	C	T	6: 97,970,214 (GRCm39)	P54S	probably damaging	Het
Or13c7b	T	A	4: 43,821,359 (GRCm39)	M1L	probably benign	Het
P4hb	A	C	11: 120,453,235 (GRCm39)	H440Q	probably benign	Het
Pbsn	T	C	X: 76,891,702 (GRCm39)	T32A	probably damaging	Het
Rptn	A	C	3: 93,302,883 (GRCm39)	H72P	possibly damaging	Het
Scn1a	T	C	2: 66,158,120 (GRCm39)	I418V	probably damaging	Het
Sf3a1	T	A	11: 4,130,024 (GRCm39)		probably null	Het
Slc35f1	C	T	10: 52,984,314 (GRCm39)	T358I	probably damaging	Het
Slc9c1	A	G	16: 45,427,193 (GRCm39)		probably benign	Het
Sorcs3	T	A	19: 48,701,943 (GRCm39)	V608D	probably damaging	Het
Sult2b1	C	T	7: 45,391,640 (GRCm39)	V49M	probably benign	Het
Tlr11	A	G	14: 50,600,192 (GRCm39)	E726G	possibly damaging	Het
Treh	C	T	9: 44,595,840 (GRCm39)	R342W	probably benign	Het

Other mutations in Baz2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Baz2b	APN	2	59,743,139 (GRCm39)	missense	probably benign	0.02
IGL00476:Baz2b	APN	2	59,744,083 (GRCm39)	missense	probably benign	0.06
IGL00489:Baz2b	APN	2	59,788,019 (GRCm39)	nonsense	probably null
IGL00514:Baz2b	APN	2	59,792,821 (GRCm39)	missense	probably benign	0.11
IGL00678:Baz2b	APN	2	59,836,527 (GRCm39)	missense	unknown
IGL01348:Baz2b	APN	2	59,764,031 (GRCm39)	missense	possibly damaging	0.95
IGL01354:Baz2b	APN	2	59,799,233 (GRCm39)	missense	probably benign	0.18
IGL01924:Baz2b	APN	2	59,765,615 (GRCm39)	missense	probably damaging	1.00
IGL02125:Baz2b	APN	2	59,798,984 (GRCm39)	missense	probably benign	0.12
IGL02314:Baz2b	APN	2	59,792,571 (GRCm39)	missense	probably benign
IGL02370:Baz2b	APN	2	59,753,933 (GRCm39)	missense	possibly damaging	0.77
IGL02473:Baz2b	APN	2	59,790,407 (GRCm39)	missense	probably benign	0.40
IGL02499:Baz2b	APN	2	59,731,840 (GRCm39)	missense	possibly damaging	0.60
IGL02609:Baz2b	APN	2	59,747,713 (GRCm39)	missense	possibly damaging	0.77
IGL02705:Baz2b	APN	2	59,778,604 (GRCm39)	missense	possibly damaging	0.92
IGL02711:Baz2b	APN	2	59,747,849 (GRCm39)	unclassified	probably benign
IGL02716:Baz2b	APN	2	59,792,868 (GRCm39)	missense	possibly damaging	0.53
IGL02724:Baz2b	APN	2	59,807,718 (GRCm39)	missense	possibly damaging	0.70
IGL02750:Baz2b	APN	2	59,799,002 (GRCm39)	missense	possibly damaging	0.73
IGL02869:Baz2b	APN	2	59,807,872 (GRCm39)	missense	probably benign	0.00
IGL02886:Baz2b	APN	2	59,788,087 (GRCm39)	splice site	probably null
IGL02892:Baz2b	APN	2	59,731,080 (GRCm39)	missense	probably damaging	1.00
IGL03132:Baz2b	APN	2	59,738,097 (GRCm39)	splice site	probably benign
IGL03183:Baz2b	APN	2	59,733,640 (GRCm39)	missense	probably benign	0.10
IGL03197:Baz2b	APN	2	59,731,898 (GRCm39)	missense	possibly damaging	0.74
R0054:Baz2b	UTSW	2	59,762,510 (GRCm39)	missense	probably damaging	1.00
R0054:Baz2b	UTSW	2	59,762,510 (GRCm39)	missense	probably damaging	1.00
R0122:Baz2b	UTSW	2	59,743,963 (GRCm39)	splice site	probably null
R0136:Baz2b	UTSW	2	59,732,298 (GRCm39)	missense	probably benign	0.22
R0144:Baz2b	UTSW	2	59,737,839 (GRCm39)	missense	probably damaging	0.98
R0403:Baz2b	UTSW	2	59,799,721 (GRCm39)	missense	possibly damaging	0.70
R0498:Baz2b	UTSW	2	59,732,340 (GRCm39)	unclassified	probably benign
R0528:Baz2b	UTSW	2	59,767,083 (GRCm39)	missense	probably damaging	1.00
R1025:Baz2b	UTSW	2	59,792,826 (GRCm39)	missense	probably benign	0.06
R1470:Baz2b	UTSW	2	59,808,890 (GRCm39)	missense	possibly damaging	0.53
R1470:Baz2b	UTSW	2	59,808,890 (GRCm39)	missense	possibly damaging	0.53
R1510:Baz2b	UTSW	2	59,752,553 (GRCm39)	missense	probably damaging	1.00
R1511:Baz2b	UTSW	2	59,792,368 (GRCm39)	missense	probably benign	0.12
R1514:Baz2b	UTSW	2	59,792,670 (GRCm39)	missense	probably benign	0.13
R1519:Baz2b	UTSW	2	59,778,598 (GRCm39)	missense	possibly damaging	0.50
R1523:Baz2b	UTSW	2	59,798,981 (GRCm39)	missense	possibly damaging	0.47
R1630:Baz2b	UTSW	2	59,836,474 (GRCm39)	missense	unknown
R1641:Baz2b	UTSW	2	59,743,234 (GRCm39)	missense	probably damaging	0.99
R1674:Baz2b	UTSW	2	59,743,336 (GRCm39)	missense	possibly damaging	0.53
R1778:Baz2b	UTSW	2	59,836,480 (GRCm39)	missense	unknown
R1826:Baz2b	UTSW	2	59,799,077 (GRCm39)	missense	probably benign	0.12
R1835:Baz2b	UTSW	2	59,732,163 (GRCm39)	missense	probably benign	0.02
R1954:Baz2b	UTSW	2	59,799,087 (GRCm39)	missense	probably benign	0.12
R1981:Baz2b	UTSW	2	59,754,024 (GRCm39)	missense	possibly damaging	0.95
R2029:Baz2b	UTSW	2	59,743,067 (GRCm39)	unclassified	probably benign
R2567:Baz2b	UTSW	2	59,744,255 (GRCm39)	missense	possibly damaging	0.82
R2842:Baz2b	UTSW	2	59,743,348 (GRCm39)	missense	probably benign	0.27
R2848:Baz2b	UTSW	2	59,755,010 (GRCm39)	missense	possibly damaging	0.64
R3809:Baz2b	UTSW	2	59,799,240 (GRCm39)	missense	probably benign	0.12
R3935:Baz2b	UTSW	2	59,743,105 (GRCm39)	missense	possibly damaging	0.81
R4072:Baz2b	UTSW	2	59,742,917 (GRCm39)	splice site	probably null
R4182:Baz2b	UTSW	2	59,928,801 (GRCm39)	intron	probably benign
R4255:Baz2b	UTSW	2	59,750,916 (GRCm39)	unclassified	probably benign
R4359:Baz2b	UTSW	2	59,731,957 (GRCm39)	missense	possibly damaging	0.87
R4716:Baz2b	UTSW	2	59,799,599 (GRCm39)	missense	probably benign	0.06
R4743:Baz2b	UTSW	2	59,744,255 (GRCm39)	missense	probably benign	0.01
R4772:Baz2b	UTSW	2	59,788,795 (GRCm39)	missense	probably damaging	0.96
R4858:Baz2b	UTSW	2	59,738,087 (GRCm39)	missense	probably benign
R4868:Baz2b	UTSW	2	59,755,226 (GRCm39)	missense	possibly damaging	0.65
R4872:Baz2b	UTSW	2	59,773,103 (GRCm39)	splice site	probably null
R4889:Baz2b	UTSW	2	59,767,070 (GRCm39)	missense	probably damaging	1.00
R4890:Baz2b	UTSW	2	59,756,383 (GRCm39)	missense	probably damaging	0.99
R4914:Baz2b	UTSW	2	59,744,387 (GRCm39)	missense	possibly damaging	0.70
R4915:Baz2b	UTSW	2	59,744,387 (GRCm39)	missense	possibly damaging	0.70
R4918:Baz2b	UTSW	2	59,744,387 (GRCm39)	missense	possibly damaging	0.70
R5027:Baz2b	UTSW	2	59,928,988 (GRCm39)	intron	probably benign
R5031:Baz2b	UTSW	2	59,743,151 (GRCm39)	missense	probably benign	0.00
R5082:Baz2b	UTSW	2	59,731,835 (GRCm39)	nonsense	probably null
R5133:Baz2b	UTSW	2	59,792,368 (GRCm39)	missense	probably benign	0.12
R5276:Baz2b	UTSW	2	59,792,958 (GRCm39)	missense	probably benign	0.40
R5279:Baz2b	UTSW	2	59,762,496 (GRCm39)	missense	probably damaging	1.00
R5294:Baz2b	UTSW	2	59,808,946 (GRCm39)	missense	probably benign	0.11
R5447:Baz2b	UTSW	2	59,744,332 (GRCm39)	missense	probably damaging	0.99
R5903:Baz2b	UTSW	2	59,790,233 (GRCm39)	missense	probably damaging	0.99
R5910:Baz2b	UTSW	2	59,807,770 (GRCm39)	missense	possibly damaging	0.88
R6140:Baz2b	UTSW	2	59,742,871 (GRCm39)	missense	probably damaging	0.99
R6195:Baz2b	UTSW	2	59,737,855 (GRCm39)	missense	possibly damaging	0.89
R6199:Baz2b	UTSW	2	59,809,019 (GRCm39)	missense	probably benign	0.00
R6208:Baz2b	UTSW	2	59,755,150 (GRCm39)	missense	probably damaging	1.00
R6233:Baz2b	UTSW	2	59,737,855 (GRCm39)	missense	possibly damaging	0.89
R6276:Baz2b	UTSW	2	59,778,567 (GRCm39)	missense	probably damaging	1.00
R6324:Baz2b	UTSW	2	59,737,292 (GRCm39)	missense	probably damaging	1.00
R6490:Baz2b	UTSW	2	59,732,073 (GRCm39)	missense	probably damaging	1.00
R6578:Baz2b	UTSW	2	59,799,623 (GRCm39)	missense	possibly damaging	0.47
R6720:Baz2b	UTSW	2	59,755,234 (GRCm39)	missense	probably damaging	1.00
R6760:Baz2b	UTSW	2	59,792,776 (GRCm39)	missense	probably benign	0.40
R6836:Baz2b	UTSW	2	59,747,769 (GRCm39)	missense	probably damaging	1.00
R6859:Baz2b	UTSW	2	59,731,874 (GRCm39)	missense	probably benign	0.01
R6880:Baz2b	UTSW	2	59,743,283 (GRCm39)	missense	probably damaging	0.99
R6916:Baz2b	UTSW	2	59,799,120 (GRCm39)	missense	probably benign
R6978:Baz2b	UTSW	2	59,738,059 (GRCm39)	missense	possibly damaging	0.84
R7037:Baz2b	UTSW	2	59,764,014 (GRCm39)	critical splice donor site	probably null
R7112:Baz2b	UTSW	2	59,792,528 (GRCm39)	missense	possibly damaging	0.53
R7117:Baz2b	UTSW	2	59,742,841 (GRCm39)	missense
R7198:Baz2b	UTSW	2	59,792,550 (GRCm39)	missense	probably benign	0.00
R7270:Baz2b	UTSW	2	59,792,836 (GRCm39)	missense	possibly damaging	0.96
R7282:Baz2b	UTSW	2	59,750,781 (GRCm39)	missense	probably benign	0.17
R7464:Baz2b	UTSW	2	59,807,792 (GRCm39)	missense	possibly damaging	0.53
R7609:Baz2b	UTSW	2	59,792,817 (GRCm39)	missense	probably benign	0.40
R7703:Baz2b	UTSW	2	59,747,769 (GRCm39)	missense	probably damaging	1.00
R7850:Baz2b	UTSW	2	59,767,060 (GRCm39)	missense	probably damaging	0.98
R7851:Baz2b	UTSW	2	59,767,060 (GRCm39)	missense	probably damaging	0.98
R7988:Baz2b	UTSW	2	59,792,485 (GRCm39)	missense	possibly damaging	0.53
R8079:Baz2b	UTSW	2	59,731,112 (GRCm39)	missense	probably damaging	1.00
R8084:Baz2b	UTSW	2	59,792,580 (GRCm39)	missense	probably benign
R8343:Baz2b	UTSW	2	59,731,858 (GRCm39)	missense	probably damaging	1.00
R8348:Baz2b	UTSW	2	59,742,137 (GRCm39)	missense
R8438:Baz2b	UTSW	2	59,747,828 (GRCm39)	nonsense	probably null
R8448:Baz2b	UTSW	2	59,742,137 (GRCm39)	missense
R8511:Baz2b	UTSW	2	59,732,158 (GRCm39)	missense	probably benign
R8893:Baz2b	UTSW	2	59,755,149 (GRCm39)	missense	probably damaging	0.96
R8947:Baz2b	UTSW	2	59,778,583 (GRCm39)	missense	probably benign	0.06
R8998:Baz2b	UTSW	2	59,799,608 (GRCm39)	missense	probably benign	0.02
R9241:Baz2b	UTSW	2	59,743,993 (GRCm39)	missense	probably benign	0.01
R9245:Baz2b	UTSW	2	59,743,331 (GRCm39)	missense	probably benign
R9577:Baz2b	UTSW	2	59,809,031 (GRCm39)	missense	probably benign	0.06
R9581:Baz2b	UTSW	2	59,799,300 (GRCm39)	missense	probably benign
R9601:Baz2b	UTSW	2	59,731,847 (GRCm39)	missense	possibly damaging	0.66
R9613:Baz2b	UTSW	2	59,731,824 (GRCm39)	missense	probably benign	0.09
R9639:Baz2b	UTSW	2	59,731,828 (GRCm39)	missense	probably benign	0.01
X0011:Baz2b	UTSW	2	59,807,705 (GRCm39)	missense	possibly damaging	0.53
X0053:Baz2b	UTSW	2	59,731,019 (GRCm39)	missense	probably damaging	1.00
X0064:Baz2b	UTSW	2	59,799,626 (GRCm39)	missense	probably benign
Z1088:Baz2b	UTSW	2	59,790,359 (GRCm39)	missense	probably damaging	1.00
Z1177:Baz2b	UTSW	2	59,807,864 (GRCm39)	missense	probably benign	0.01
Z1188:Baz2b	UTSW	2	59,807,749 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACCATCCGAACTGCATTTC -3'
(R):5'- GAGTGCTCGCTTCCAACGTC -3'

Sequencing Primer
(F):5'- CTGCATTTCTAAGTCAAGAGAGCAC -3'
(R):5'- AACGTCCCATTTACATCACCTTTG -3'

Posted On

2015-04-17