Mutagenetix > Incidental Mutation

Incidental Mutation 'R4524:Arid1b'

334387

Institutional Source

Beutler Lab

Gene Symbol

Arid1b

Ensembl Gene

ENSMUSG00000069729

Gene Name

AT-rich interaction domain 1B

Synonyms

9330189K18Rik, B230217J03Rik

MMRRC Submission

041766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R4524 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

5044607-5397931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5147895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 599 (Q599L)

Ref Sequence

ENSEMBL: ENSMUSP00000156119 (fasta)

Gene Model

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

AlphaFold

E9Q4N7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092723
AA Change: Q599L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090398
Gene: ENSMUSG00000069729
AA Change: Q599L

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

possibly damaging
Transcript: ENSMUST00000115797
AA Change: Q547L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: Q547L

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

possibly damaging
Transcript: ENSMUST00000115799
AA Change: Q95L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729
AA Change: Q95L

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

noncoding transcript
Transcript: ENSMUST00000124362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156775

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232180
AA Change: Q599L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.3287

Coding Region Coverage

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

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,342,076 (GRCm39)	S962G	probably benign	Het
Ackr2	T	C	9: 121,738,609 (GRCm39)	V328A	probably benign	Het
Ang4	G	T	14: 52,001,605 (GRCm39)	C114*	probably null	Het
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Atrnl1	A	G	19: 57,618,738 (GRCm39)	D152G	probably damaging	Het
Birc6	C	T	17: 74,948,772 (GRCm39)	T3067I	probably damaging	Het
Bmpr2	T	C	1: 59,906,571 (GRCm39)	S555P	probably benign	Het
Brox	A	T	1: 183,074,045 (GRCm39)	L68I	possibly damaging	Het
C130026L21Rik	A	G	5: 111,733,738 (GRCm39)		noncoding transcript	Het
Cavin2	T	C	1: 51,340,229 (GRCm39)	V302A	probably benign	Het
Cbln3	A	T	14: 56,121,522 (GRCm39)	C41*	probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Clec4a2	T	A	6: 123,102,043 (GRCm39)	I66N	probably damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Ddx27	T	A	2: 166,869,640 (GRCm39)	C358*	probably null	Het
Ehbp1	A	T	11: 22,101,843 (GRCm39)	D228E	probably damaging	Het
Emc7	T	C	2: 112,285,609 (GRCm39)	V66A	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Furin	T	C	7: 80,048,382 (GRCm39)		probably null	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Gmpr	A	T	13: 45,683,215 (GRCm39)	E162V	probably damaging	Het
Gtpbp4	A	T	13: 9,024,330 (GRCm39)	V541D	probably benign	Het
Myh2	G	T	11: 67,067,096 (GRCm39)	G184W	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nrg4	T	G	9: 55,135,186 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Or14a257	G	T	7: 86,138,034 (GRCm39)	H242N	probably damaging	Het
Or8b12	T	C	9: 37,658,162 (GRCm39)	L244S	possibly damaging	Het
Pde7a	T	A	3: 19,285,140 (GRCm39)	H349L	possibly damaging	Het
Pds5b	A	T	5: 150,711,781 (GRCm39)	D913V	probably damaging	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ralgapb	C	A	2: 158,279,226 (GRCm39)	T104N	probably benign	Het
Rapgef1	A	G	2: 29,569,258 (GRCm39)	I59V	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rsph6a	C	T	7: 18,799,970 (GRCm39)	H534Y	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shcbp1	T	C	8: 4,789,193 (GRCm39)	Y542C	probably damaging	Het
Shisa8	C	G	15: 82,096,163 (GRCm39)	V151L	possibly damaging	Het
Slc7a8	G	A	14: 54,975,059 (GRCm39)	T190I	probably damaging	Het
Spire2	T	A	8: 124,086,974 (GRCm39)	S382T	probably benign	Het
Stard9	A	G	2: 120,526,926 (GRCm39)	D1061G	probably damaging	Het
Tex44	T	G	1: 86,355,298 (GRCm39)	D402E	probably benign	Het
Thbs1	G	T	2: 117,953,460 (GRCm39)	R959L	probably damaging	Het
Tiam2	A	G	17: 3,564,986 (GRCm39)	D1408G	probably damaging	Het
Trrap	C	T	5: 144,762,131 (GRCm39)	T2352I	probably benign	Het
Tspyl5	T	A	15: 33,687,738 (GRCm39)	E69V	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Washc1	C	T	17: 66,426,087 (GRCm39)	Q462*	probably null	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het

Other mutations in Arid1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Arid1b	APN	17	5,387,385 (GRCm39)	missense	possibly damaging	0.77
IGL00340:Arid1b	APN	17	5,371,559 (GRCm39)	missense	probably damaging	1.00
IGL00886:Arid1b	APN	17	5,177,254 (GRCm39)	missense	probably damaging	0.99
IGL01161:Arid1b	APN	17	5,392,674 (GRCm39)	missense	probably damaging	1.00
IGL01391:Arid1b	APN	17	5,369,133 (GRCm39)	splice site	probably benign
IGL01456:Arid1b	APN	17	5,341,510 (GRCm39)	missense	probably damaging	1.00
IGL02152:Arid1b	APN	17	5,364,243 (GRCm39)	missense	probably damaging	1.00
IGL02288:Arid1b	APN	17	5,314,315 (GRCm39)	missense	possibly damaging	0.88
IGL02713:Arid1b	APN	17	5,393,286 (GRCm39)	missense	probably damaging	1.00
IGL02858:Arid1b	APN	17	5,392,166 (GRCm39)	missense	possibly damaging	0.92
IGL02885:Arid1b	APN	17	5,392,428 (GRCm39)	missense	probably damaging	1.00
IGL02989:Arid1b	APN	17	5,385,322 (GRCm39)	missense	probably damaging	1.00
FR4449:Arid1b	UTSW	17	5,045,864 (GRCm39)	small insertion	probably benign
PIT4142001:Arid1b	UTSW	17	5,389,518 (GRCm39)	missense	probably damaging	1.00
R0048:Arid1b	UTSW	17	5,364,309 (GRCm39)	critical splice donor site	probably null
R0124:Arid1b	UTSW	17	5,389,605 (GRCm39)	missense	probably damaging	1.00
R0153:Arid1b	UTSW	17	5,393,207 (GRCm39)	missense	probably damaging	1.00
R0465:Arid1b	UTSW	17	5,046,535 (GRCm39)	missense	possibly damaging	0.68
R0825:Arid1b	UTSW	17	5,392,453 (GRCm39)	missense	probably damaging	1.00
R1172:Arid1b	UTSW	17	5,389,575 (GRCm39)	missense	probably damaging	1.00
R1468:Arid1b	UTSW	17	5,293,197 (GRCm39)	missense	probably damaging	0.99
R1468:Arid1b	UTSW	17	5,293,197 (GRCm39)	missense	probably damaging	0.99
R1616:Arid1b	UTSW	17	5,389,569 (GRCm39)	missense	probably damaging	1.00
R1754:Arid1b	UTSW	17	5,329,476 (GRCm39)	critical splice acceptor site	probably null
R1760:Arid1b	UTSW	17	5,392,088 (GRCm39)	missense	probably damaging	0.97
R1812:Arid1b	UTSW	17	5,387,304 (GRCm39)	missense	probably benign	0.10
R1911:Arid1b	UTSW	17	5,393,241 (GRCm39)	missense	probably damaging	1.00
R3874:Arid1b	UTSW	17	5,386,790 (GRCm39)	splice site	probably null
R3913:Arid1b	UTSW	17	5,392,532 (GRCm39)	missense	possibly damaging	0.94
R3916:Arid1b	UTSW	17	5,392,928 (GRCm39)	missense	probably benign	0.25
R3922:Arid1b	UTSW	17	5,393,316 (GRCm39)	missense	probably damaging	0.97
R4119:Arid1b	UTSW	17	5,046,069 (GRCm39)	unclassified	probably benign
R4290:Arid1b	UTSW	17	5,090,938 (GRCm39)	missense	probably damaging	1.00
R4291:Arid1b	UTSW	17	5,090,938 (GRCm39)	missense	probably damaging	1.00
R4352:Arid1b	UTSW	17	5,147,859 (GRCm39)	missense	possibly damaging	0.93
R4386:Arid1b	UTSW	17	5,045,247 (GRCm39)	unclassified	probably benign
R4458:Arid1b	UTSW	17	5,293,191 (GRCm39)	missense	probably damaging	0.99
R4622:Arid1b	UTSW	17	5,045,325 (GRCm39)	unclassified	probably benign
R4723:Arid1b	UTSW	17	5,387,565 (GRCm39)	missense	probably benign	0.01
R4782:Arid1b	UTSW	17	5,389,496 (GRCm39)	missense	probably damaging	1.00
R4799:Arid1b	UTSW	17	5,389,496 (GRCm39)	missense	probably damaging	1.00
R4910:Arid1b	UTSW	17	5,392,478 (GRCm39)	missense	probably damaging	1.00
R4946:Arid1b	UTSW	17	5,393,118 (GRCm39)	missense	probably damaging	0.99
R5083:Arid1b	UTSW	17	5,364,293 (GRCm39)	missense	possibly damaging	0.54
R5204:Arid1b	UTSW	17	5,393,316 (GRCm39)	missense	probably damaging	0.97
R5347:Arid1b	UTSW	17	5,341,332 (GRCm39)	nonsense	probably null
R5553:Arid1b	UTSW	17	5,364,152 (GRCm39)	missense	probably damaging	1.00
R5713:Arid1b	UTSW	17	5,387,091 (GRCm39)	missense	probably damaging	1.00
R5820:Arid1b	UTSW	17	5,046,529 (GRCm39)	missense	possibly damaging	0.96
R5992:Arid1b	UTSW	17	5,045,231 (GRCm39)	unclassified	probably benign
R6038:Arid1b	UTSW	17	5,386,957 (GRCm39)	missense	probably benign	0.07
R6038:Arid1b	UTSW	17	5,386,957 (GRCm39)	missense	probably benign	0.07
R6153:Arid1b	UTSW	17	5,293,107 (GRCm39)	missense	probably damaging	1.00
R6222:Arid1b	UTSW	17	5,377,922 (GRCm39)	critical splice acceptor site	probably null
R6249:Arid1b	UTSW	17	5,329,636 (GRCm39)	missense	possibly damaging	0.61
R6279:Arid1b	UTSW	17	5,392,274 (GRCm39)	missense	probably damaging	1.00
R6329:Arid1b	UTSW	17	5,387,538 (GRCm39)	nonsense	probably null
R6368:Arid1b	UTSW	17	5,382,808 (GRCm39)	missense	possibly damaging	0.64
R6466:Arid1b	UTSW	17	5,377,953 (GRCm39)	missense	probably damaging	1.00
R6861:Arid1b	UTSW	17	5,377,961 (GRCm39)	missense	possibly damaging	0.93
R7008:Arid1b	UTSW	17	5,341,254 (GRCm39)	missense	probably damaging	1.00
R7270:Arid1b	UTSW	17	5,046,318 (GRCm39)	missense	unknown
R7514:Arid1b	UTSW	17	5,391,989 (GRCm39)	missense	probably benign	0.28
R7519:Arid1b	UTSW	17	5,046,128 (GRCm39)	small insertion	probably benign
R7519:Arid1b	UTSW	17	5,046,119 (GRCm39)	small insertion	probably benign
R7521:Arid1b	UTSW	17	5,392,865 (GRCm39)	missense	probably benign	0.06
R7521:Arid1b	UTSW	17	5,046,119 (GRCm39)	small insertion	probably benign
R7521:Arid1b	UTSW	17	5,046,135 (GRCm39)	small insertion	probably benign
R7616:Arid1b	UTSW	17	5,045,661 (GRCm39)	missense	unknown
R7654:Arid1b	UTSW	17	5,341,360 (GRCm39)	missense	possibly damaging	0.46
R7711:Arid1b	UTSW	17	5,387,095 (GRCm39)	missense	probably benign	0.28
R7828:Arid1b	UTSW	17	5,147,943 (GRCm39)	missense	probably damaging	1.00
R7864:Arid1b	UTSW	17	5,392,530 (GRCm39)	missense	probably damaging	1.00
R7998:Arid1b	UTSW	17	5,377,959 (GRCm39)	missense	probably damaging	1.00
R8105:Arid1b	UTSW	17	5,341,518 (GRCm39)	missense	possibly damaging	0.81
R8260:Arid1b	UTSW	17	5,382,788 (GRCm39)	missense	probably benign	0.03
R8374:Arid1b	UTSW	17	5,392,919 (GRCm39)	missense	possibly damaging	0.95
R8779:Arid1b	UTSW	17	5,391,809 (GRCm39)	missense	probably benign	0.03
R8801:Arid1b	UTSW	17	5,387,103 (GRCm39)	missense	probably benign	0.05
R8894:Arid1b	UTSW	17	5,377,668 (GRCm39)	missense	probably damaging	0.98
R8982:Arid1b	UTSW	17	5,293,316 (GRCm39)	missense	probably damaging	0.98
R9034:Arid1b	UTSW	17	5,387,180 (GRCm39)	missense	probably benign	0.01
R9272:Arid1b	UTSW	17	5,386,879 (GRCm39)	missense	possibly damaging	0.80
R9300:Arid1b	UTSW	17	5,293,274 (GRCm39)	missense	probably damaging	1.00
R9332:Arid1b	UTSW	17	5,045,584 (GRCm39)	missense	unknown
R9481:Arid1b	UTSW	17	5,369,007 (GRCm39)	missense	probably damaging	1.00
R9493:Arid1b	UTSW	17	5,046,423 (GRCm39)	missense	unknown
R9512:Arid1b	UTSW	17	5,391,864 (GRCm39)	missense	probably benign	0.00
R9548:Arid1b	UTSW	17	5,385,262 (GRCm39)	missense	probably damaging	1.00
RF007:Arid1b	UTSW	17	5,045,869 (GRCm39)	small insertion	probably benign
RF008:Arid1b	UTSW	17	5,045,870 (GRCm39)	small insertion	probably benign
RF008:Arid1b	UTSW	17	5,045,869 (GRCm39)	small insertion	probably benign
RF025:Arid1b	UTSW	17	5,045,871 (GRCm39)	small insertion	probably benign
RF025:Arid1b	UTSW	17	5,045,863 (GRCm39)	small insertion	probably benign
RF028:Arid1b	UTSW	17	5,045,873 (GRCm39)	small insertion	probably benign
RF032:Arid1b	UTSW	17	5,045,863 (GRCm39)	small insertion	probably benign
RF033:Arid1b	UTSW	17	5,045,860 (GRCm39)	small insertion	probably benign
RF041:Arid1b	UTSW	17	5,045,870 (GRCm39)	small insertion	probably benign
RF045:Arid1b	UTSW	17	5,045,858 (GRCm39)	small insertion	probably benign
RF046:Arid1b	UTSW	17	5,045,865 (GRCm39)	small insertion	probably benign
RF058:Arid1b	UTSW	17	5,045,858 (GRCm39)	small insertion	probably benign
X0023:Arid1b	UTSW	17	5,392,668 (GRCm39)	missense	probably benign	0.39
X0027:Arid1b	UTSW	17	5,392,647 (GRCm39)	nonsense	probably null
Z1177:Arid1b	UTSW	17	5,046,603 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AGGCAGAAAGTCCGTTTGTC -3'
(R):5'- CTCAATGTCTGCAGTAGTGGG -3'

Sequencing Primer
(F):5'- AGGCAGAAAGTCCGTTTGTCTAATG -3'
(R):5'- GTCCACGGAGAAACTCTGTCTTG -3'

Posted On

2015-08-18