Mutagenetix > Incidental Mutation

Incidental Mutation 'R5553:Arid1b'

435240

Institutional Source

Beutler Lab

Gene Symbol

Arid1b

Ensembl Gene

ENSMUSG00000069729

Gene Name

AT rich interactive domain 1B (SWI-like)

Synonyms

B230217J03Rik, 9330189K18Rik

MMRRC Submission

043110-MU

Accession Numbers

Ncbi RefSeq: NM_001085355.1; MGI:1926129

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R5553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4994332-5347656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5313877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1041 (S1041C)

Ref Sequence

ENSEMBL: ENSMUSP00000156119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092723] [ENSMUST00000115797] [ENSMUST00000115799] [ENSMUST00000232180]

AlphaFold

E9Q4N7

Predicted Effect

probably benign
Transcript: ENSMUST00000092723

SMART Domains

Protein: ENSMUSP00000090398
Gene: ENSMUSG00000069729

Domain	Start	End	E-Value	Type
low complexity region	2	51	N/A	INTRINSIC
low complexity region	69	132	N/A	INTRINSIC
low complexity region	139	150	N/A	INTRINSIC
low complexity region	201	224	N/A	INTRINSIC
low complexity region	232	247	N/A	INTRINSIC
low complexity region	257	276	N/A	INTRINSIC
low complexity region	301	371	N/A	INTRINSIC
low complexity region	379	407	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
low complexity region	485	499	N/A	INTRINSIC
low complexity region	538	558	N/A	INTRINSIC
low complexity region	574	591	N/A	INTRINSIC
low complexity region	596	611	N/A	INTRINSIC
low complexity region	615	640	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
low complexity region	719	740	N/A	INTRINSIC
low complexity region	743	773	N/A	INTRINSIC
low complexity region	805	816	N/A	INTRINSIC
low complexity region	912	930	N/A	INTRINSIC
low complexity region	936	952	N/A	INTRINSIC
low complexity region	974	985	N/A	INTRINSIC
low complexity region	1036	1045	N/A	INTRINSIC
ARID	1057	1147	9.9e-33	SMART
BRIGHT	1061	1152	7.62e-41	SMART
low complexity region	1166	1177	N/A	INTRINSIC
low complexity region	1257	1268	N/A	INTRINSIC
low complexity region	1336	1364	N/A	INTRINSIC
low complexity region	1426	1456	N/A	INTRINSIC
low complexity region	1473	1486	N/A	INTRINSIC
low complexity region	1579	1595	N/A	INTRINSIC
coiled coil region	1724	1745	N/A	INTRINSIC
low complexity region	1835	1843	N/A	INTRINSIC
Pfam:DUF3518	1933	2189	1.5e-152	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115797
AA Change: S989C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: S989C

Domain	Start	End	E-Value	Type
low complexity region	17	80	N/A	INTRINSIC
low complexity region	87	98	N/A	INTRINSIC
low complexity region	149	172	N/A	INTRINSIC
low complexity region	180	195	N/A	INTRINSIC
low complexity region	205	224	N/A	INTRINSIC
low complexity region	249	319	N/A	INTRINSIC
low complexity region	327	355	N/A	INTRINSIC
low complexity region	386	424	N/A	INTRINSIC
low complexity region	433	447	N/A	INTRINSIC
low complexity region	486	506	N/A	INTRINSIC
low complexity region	522	539	N/A	INTRINSIC
low complexity region	544	559	N/A	INTRINSIC
low complexity region	563	588	N/A	INTRINSIC
low complexity region	639	655	N/A	INTRINSIC
low complexity region	667	688	N/A	INTRINSIC
low complexity region	691	721	N/A	INTRINSIC
low complexity region	753	764	N/A	INTRINSIC
low complexity region	860	878	N/A	INTRINSIC
low complexity region	884	900	N/A	INTRINSIC
low complexity region	922	933	N/A	INTRINSIC
Blast:ARID	981	1028	1e-8	BLAST
low complexity region	1029	1054	N/A	INTRINSIC
ARID	1058	1148	9.9e-33	SMART
BRIGHT	1062	1153	7.62e-41	SMART
low complexity region	1167	1178	N/A	INTRINSIC
low complexity region	1258	1269	N/A	INTRINSIC
low complexity region	1337	1365	N/A	INTRINSIC
low complexity region	1427	1457	N/A	INTRINSIC
low complexity region	1474	1487	N/A	INTRINSIC
low complexity region	1580	1596	N/A	INTRINSIC
coiled coil region	1725	1746	N/A	INTRINSIC
low complexity region	1836	1844	N/A	INTRINSIC
Pfam:DUF3518	1935	2190	6.3e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115799
AA Change: S507C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729
AA Change: S507C

Domain	Start	End	E-Value	Type
low complexity region	34	54	N/A	INTRINSIC
low complexity region	70	87	N/A	INTRINSIC
low complexity region	92	107	N/A	INTRINSIC
low complexity region	111	136	N/A	INTRINSIC
low complexity region	187	203	N/A	INTRINSIC
low complexity region	215	236	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	402	418	N/A	INTRINSIC
low complexity region	440	451	N/A	INTRINSIC
Blast:ARID	499	546	1e-8	BLAST
low complexity region	547	572	N/A	INTRINSIC
ARID	576	666	9.9e-33	SMART
BRIGHT	580	671	7.62e-41	SMART
low complexity region	685	696	N/A	INTRINSIC
low complexity region	776	787	N/A	INTRINSIC
low complexity region	855	883	N/A	INTRINSIC
low complexity region	945	975	N/A	INTRINSIC
low complexity region	992	1005	N/A	INTRINSIC
low complexity region	1098	1114	N/A	INTRINSIC
coiled coil region	1243	1264	N/A	INTRINSIC
low complexity region	1354	1362	N/A	INTRINSIC
Pfam:DUF3518	1452	1708	1.1e-152	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000232180
AA Change: S1041C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Allele List at MGI

All alleles(61) : Targeted(2) Gene trapped(59)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,920,841 (GRCm38)	I86F	probably damaging	Het
Abca13	C	T	11: 9,328,158 (GRCm38)	L3113F	probably damaging	Het
Ankrd39	C	T	1: 36,541,981 (GRCm38)	G96R	probably damaging	Het
Ano8	T	A	8: 71,484,997 (GRCm38)		probably null	Het
Bsn	T	A	9: 108,110,421 (GRCm38)		probably benign	Het
Cbr3	A	G	16: 93,683,563 (GRCm38)	E80G	possibly damaging	Het
Chd1	A	G	17: 17,385,613 (GRCm38)	E271G	probably benign	Het
Dock3	T	A	9: 106,991,110 (GRCm38)	K658N	possibly damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,783,628 (GRCm38)		probably benign	Het
Dppa1	T	A	11: 46,613,034 (GRCm38)		probably null	Het
Fam129a	C	T	1: 151,717,235 (GRCm38)	T557M	probably damaging	Het
Fen1	T	C	19: 10,200,423 (GRCm38)	N219S	probably benign	Het
Fsip2	A	G	2: 82,962,746 (GRCm38)	T416A	probably benign	Het
Gm14393	A	T	2: 175,061,846 (GRCm38)	C89*	probably null	Het
Grin2c	C	T	11: 115,252,725 (GRCm38)	M736I	probably null	Het
Heatr5b	A	T	17: 78,753,351 (GRCm38)		probably null	Het
Hspbap1	G	T	16: 35,801,597 (GRCm38)	W104L	probably damaging	Het
Igfn1	C	T	1: 135,967,884 (GRCm38)	G1648E	probably damaging	Het
Irf4	A	G	13: 30,751,828 (GRCm38)	Y122C	probably damaging	Het
Kremen2	A	G	17: 23,741,802 (GRCm38)		probably benign	Het
Nubpl	T	A	12: 52,181,299 (GRCm38)	L169M	possibly damaging	Het
Nwd1	T	C	8: 72,704,976 (GRCm38)	S1200P	possibly damaging	Het
Olfr352	A	G	2: 36,870,465 (GRCm38)	I300V	probably benign	Het
Olfr485	A	T	7: 108,159,271 (GRCm38)	S201T	probably benign	Het
Parp14	G	T	16: 35,856,936 (GRCm38)	H887Q	probably benign	Het
Paxip1	G	A	5: 27,775,639 (GRCm38)		probably benign	Het
Piwil1	T	C	5: 128,745,501 (GRCm38)	M392T	probably benign	Het
Plekhm3	T	C	1: 64,921,886 (GRCm38)	S404G	possibly damaging	Het
Prelid3a	T	C	18: 67,477,023 (GRCm38)	L141P	probably damaging	Het
Ptprb	T	A	10: 116,350,185 (GRCm38)	V1715E	probably damaging	Het
Rc3h2	G	A	2: 37,398,311 (GRCm38)	R420*	probably null	Het
Selenon	C	A	4: 134,540,917 (GRCm38)	R435L	probably damaging	Het
Slc29a4	T	C	5: 142,720,036 (GRCm38)	L425P	probably damaging	Het
Slc30a9	T	A	5: 67,345,604 (GRCm38)		probably null	Het
Slc9a5	T	C	8: 105,357,040 (GRCm38)	V404A	probably damaging	Het
Ssc5d	A	T	7: 4,936,290 (GRCm38)	D575V	probably damaging	Het
Ttn	A	C	2: 76,891,596 (GRCm38)		probably null	Het
Vmn2r100	A	G	17: 19,504,848 (GRCm38)	Q13R	possibly damaging	Het
Wfikkn1	T	A	17: 25,878,494 (GRCm38)	L285F	possibly damaging	Het
Zcchc17	A	G	4: 130,354,134 (GRCm38)		probably null	Het

Other mutations in Arid1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Arid1b	APN	17	5,337,110 (GRCm38)	missense	possibly damaging	0.77
IGL00340:Arid1b	APN	17	5,321,284 (GRCm38)	missense	probably damaging	1.00
IGL00886:Arid1b	APN	17	5,126,979 (GRCm38)	missense	probably damaging	0.99
IGL01161:Arid1b	APN	17	5,342,399 (GRCm38)	missense	probably damaging	1.00
IGL01391:Arid1b	APN	17	5,318,858 (GRCm38)	splice site	probably benign
IGL01456:Arid1b	APN	17	5,291,235 (GRCm38)	missense	probably damaging	1.00
IGL02152:Arid1b	APN	17	5,313,968 (GRCm38)	missense	probably damaging	1.00
IGL02288:Arid1b	APN	17	5,264,040 (GRCm38)	missense	possibly damaging	0.88
IGL02713:Arid1b	APN	17	5,343,011 (GRCm38)	missense	probably damaging	1.00
IGL02858:Arid1b	APN	17	5,341,891 (GRCm38)	missense	possibly damaging	0.92
IGL02885:Arid1b	APN	17	5,342,153 (GRCm38)	missense	probably damaging	1.00
IGL02989:Arid1b	APN	17	5,335,047 (GRCm38)	missense	probably damaging	1.00
FR4449:Arid1b	UTSW	17	4,995,589 (GRCm38)	small insertion	probably benign
PIT4142001:Arid1b	UTSW	17	5,339,243 (GRCm38)	missense	probably damaging	1.00
R0048:Arid1b	UTSW	17	5,314,034 (GRCm38)	critical splice donor site	probably null
R0124:Arid1b	UTSW	17	5,339,330 (GRCm38)	missense	probably damaging	1.00
R0153:Arid1b	UTSW	17	5,342,932 (GRCm38)	missense	probably damaging	1.00
R0465:Arid1b	UTSW	17	4,996,260 (GRCm38)	missense	possibly damaging	0.68
R0825:Arid1b	UTSW	17	5,342,178 (GRCm38)	missense	probably damaging	1.00
R1172:Arid1b	UTSW	17	5,339,300 (GRCm38)	missense	probably damaging	1.00
R1468:Arid1b	UTSW	17	5,242,922 (GRCm38)	missense	probably damaging	0.99
R1468:Arid1b	UTSW	17	5,242,922 (GRCm38)	missense	probably damaging	0.99
R1616:Arid1b	UTSW	17	5,339,294 (GRCm38)	missense	probably damaging	1.00
R1754:Arid1b	UTSW	17	5,279,201 (GRCm38)	critical splice acceptor site	probably null
R1760:Arid1b	UTSW	17	5,341,813 (GRCm38)	missense	probably damaging	0.97
R1812:Arid1b	UTSW	17	5,337,029 (GRCm38)	missense	probably benign	0.10
R1911:Arid1b	UTSW	17	5,342,966 (GRCm38)	missense	probably damaging	1.00
R3874:Arid1b	UTSW	17	5,336,515 (GRCm38)	splice site	probably null
R3913:Arid1b	UTSW	17	5,342,257 (GRCm38)	missense	possibly damaging	0.94
R3916:Arid1b	UTSW	17	5,342,653 (GRCm38)	missense	probably benign	0.25
R3922:Arid1b	UTSW	17	5,343,041 (GRCm38)	missense	probably damaging	0.97
R4119:Arid1b	UTSW	17	4,995,794 (GRCm38)	unclassified	probably benign
R4290:Arid1b	UTSW	17	5,040,663 (GRCm38)	missense	probably damaging	1.00
R4291:Arid1b	UTSW	17	5,040,663 (GRCm38)	missense	probably damaging	1.00
R4352:Arid1b	UTSW	17	5,097,584 (GRCm38)	missense	possibly damaging	0.93
R4386:Arid1b	UTSW	17	4,994,972 (GRCm38)	unclassified	probably benign
R4458:Arid1b	UTSW	17	5,242,916 (GRCm38)	missense	probably damaging	0.99
R4524:Arid1b	UTSW	17	5,097,620 (GRCm38)	missense	possibly damaging	0.93
R4622:Arid1b	UTSW	17	4,995,050 (GRCm38)	unclassified	probably benign
R4723:Arid1b	UTSW	17	5,337,290 (GRCm38)	missense	probably benign	0.01
R4782:Arid1b	UTSW	17	5,339,221 (GRCm38)	missense	probably damaging	1.00
R4799:Arid1b	UTSW	17	5,339,221 (GRCm38)	missense	probably damaging	1.00
R4910:Arid1b	UTSW	17	5,342,203 (GRCm38)	missense	probably damaging	1.00
R4946:Arid1b	UTSW	17	5,342,843 (GRCm38)	missense	probably damaging	0.99
R5083:Arid1b	UTSW	17	5,314,018 (GRCm38)	missense	possibly damaging	0.54
R5204:Arid1b	UTSW	17	5,343,041 (GRCm38)	missense	probably damaging	0.97
R5347:Arid1b	UTSW	17	5,291,057 (GRCm38)	nonsense	probably null
R5713:Arid1b	UTSW	17	5,336,816 (GRCm38)	missense	probably damaging	1.00
R5820:Arid1b	UTSW	17	4,996,254 (GRCm38)	missense	possibly damaging	0.96
R5992:Arid1b	UTSW	17	4,994,956 (GRCm38)	unclassified	probably benign
R6038:Arid1b	UTSW	17	5,336,682 (GRCm38)	missense	probably benign	0.07
R6038:Arid1b	UTSW	17	5,336,682 (GRCm38)	missense	probably benign	0.07
R6153:Arid1b	UTSW	17	5,242,832 (GRCm38)	missense	probably damaging	1.00
R6222:Arid1b	UTSW	17	5,327,647 (GRCm38)	critical splice acceptor site	probably null
R6249:Arid1b	UTSW	17	5,279,361 (GRCm38)	missense	possibly damaging	0.61
R6279:Arid1b	UTSW	17	5,341,999 (GRCm38)	missense	probably damaging	1.00
R6329:Arid1b	UTSW	17	5,337,263 (GRCm38)	nonsense	probably null
R6368:Arid1b	UTSW	17	5,332,533 (GRCm38)	missense	possibly damaging	0.64
R6466:Arid1b	UTSW	17	5,327,678 (GRCm38)	missense	probably damaging	1.00
R6861:Arid1b	UTSW	17	5,327,686 (GRCm38)	missense	possibly damaging	0.93
R7008:Arid1b	UTSW	17	5,290,979 (GRCm38)	missense	probably damaging	1.00
R7270:Arid1b	UTSW	17	4,996,043 (GRCm38)	missense	unknown
R7514:Arid1b	UTSW	17	5,341,714 (GRCm38)	missense	probably benign	0.28
R7519:Arid1b	UTSW	17	4,995,853 (GRCm38)	small insertion	probably benign
R7519:Arid1b	UTSW	17	4,995,844 (GRCm38)	small insertion	probably benign
R7521:Arid1b	UTSW	17	5,342,590 (GRCm38)	missense	probably benign	0.06
R7521:Arid1b	UTSW	17	4,995,844 (GRCm38)	small insertion	probably benign
R7521:Arid1b	UTSW	17	4,995,860 (GRCm38)	small insertion	probably benign
R7616:Arid1b	UTSW	17	4,995,386 (GRCm38)	missense	unknown
R7654:Arid1b	UTSW	17	5,291,085 (GRCm38)	missense	possibly damaging	0.46
R7711:Arid1b	UTSW	17	5,336,820 (GRCm38)	missense	probably benign	0.28
R7828:Arid1b	UTSW	17	5,097,668 (GRCm38)	missense	probably damaging	1.00
R7864:Arid1b	UTSW	17	5,342,255 (GRCm38)	missense	probably damaging	1.00
R7998:Arid1b	UTSW	17	5,327,684 (GRCm38)	missense	probably damaging	1.00
R8105:Arid1b	UTSW	17	5,291,243 (GRCm38)	missense	possibly damaging	0.81
R8260:Arid1b	UTSW	17	5,332,513 (GRCm38)	missense	probably benign	0.03
R8374:Arid1b	UTSW	17	5,342,644 (GRCm38)	missense	possibly damaging	0.95
R8779:Arid1b	UTSW	17	5,341,534 (GRCm38)	missense	probably benign	0.03
R8801:Arid1b	UTSW	17	5,336,828 (GRCm38)	missense	probably benign	0.05
R8894:Arid1b	UTSW	17	5,327,393 (GRCm38)	missense	probably damaging	0.98
R8982:Arid1b	UTSW	17	5,243,041 (GRCm38)	missense	probably damaging	0.98
R9034:Arid1b	UTSW	17	5,336,905 (GRCm38)	missense	probably benign	0.01
R9272:Arid1b	UTSW	17	5,336,604 (GRCm38)	missense	possibly damaging	0.80
R9300:Arid1b	UTSW	17	5,242,999 (GRCm38)	missense	probably damaging	1.00
R9332:Arid1b	UTSW	17	4,995,309 (GRCm38)	missense	unknown
R9481:Arid1b	UTSW	17	5,318,732 (GRCm38)	missense	probably damaging	1.00
R9493:Arid1b	UTSW	17	4,996,148 (GRCm38)	missense	unknown
R9512:Arid1b	UTSW	17	5,341,589 (GRCm38)	missense	probably benign	0.00
R9548:Arid1b	UTSW	17	5,334,987 (GRCm38)	missense	probably damaging	1.00
RF007:Arid1b	UTSW	17	4,995,594 (GRCm38)	small insertion	probably benign
RF008:Arid1b	UTSW	17	4,995,595 (GRCm38)	small insertion	probably benign
RF008:Arid1b	UTSW	17	4,995,594 (GRCm38)	small insertion	probably benign
RF025:Arid1b	UTSW	17	4,995,596 (GRCm38)	small insertion	probably benign
RF025:Arid1b	UTSW	17	4,995,588 (GRCm38)	small insertion	probably benign
RF028:Arid1b	UTSW	17	4,995,598 (GRCm38)	small insertion	probably benign
RF032:Arid1b	UTSW	17	4,995,588 (GRCm38)	small insertion	probably benign
RF033:Arid1b	UTSW	17	4,995,585 (GRCm38)	small insertion	probably benign
RF041:Arid1b	UTSW	17	4,995,595 (GRCm38)	small insertion	probably benign
RF045:Arid1b	UTSW	17	4,995,583 (GRCm38)	small insertion	probably benign
RF046:Arid1b	UTSW	17	4,995,590 (GRCm38)	small insertion	probably benign
RF058:Arid1b	UTSW	17	4,995,583 (GRCm38)	small insertion	probably benign
X0023:Arid1b	UTSW	17	5,342,393 (GRCm38)	missense	probably benign	0.39
X0027:Arid1b	UTSW	17	5,342,372 (GRCm38)	nonsense	probably null
Z1177:Arid1b	UTSW	17	4,996,328 (GRCm38)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TACAGCTGTGATAGAGATACACAC -3'
(R):5'- CCAGGATCACTTACAGGGCTTG -3'

Sequencing Primer
(F):5'- TGTGATAGAGAGATACACACACATC -3'
(R):5'- ATCACTTACAGGGCTTGATGGTGTC -3'

Posted On

2016-10-24