Mutagenetix > Incidental Mutation

Incidental Mutation 'R9493:Arid1b'

717079

Institutional Source

Beutler Lab

Gene Symbol

Arid1b

Ensembl Gene

ENSMUSG00000069729

Gene Name

AT-rich interaction domain 1B

Synonyms

9330189K18Rik, B230217J03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R9493 (G1)

Quality Score

167.009

Status

Not validated

Chromosome

Chromosomal Location

5044607-5397931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5046423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 404 (A404T)

Ref Sequence

ENSEMBL: ENSMUSP00000090398 (fasta)

Gene Model

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

AlphaFold

E9Q4N7

Predicted Effect

unknown
Transcript: ENSMUST00000092723
AA Change: A404T

SMART Domains

Protein: ENSMUSP00000090398
Gene: ENSMUSG00000069729
AA Change: A404T

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

unknown
Transcript: ENSMUST00000115797
AA Change: A352T

SMART Domains

Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: A352T

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 benign
Transcript: ENSMUST00000115799

SMART Domains

Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729

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

unknown
Transcript: ENSMUST00000232180
AA Change: A404T

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,191 (GRCm39)	Y799H	probably damaging	Het
Akap5	G	A	12: 76,375,041 (GRCm39)	A158T	probably damaging	Het
Aox4	A	G	1: 58,286,434 (GRCm39)	K689E	probably benign	Het
Bltp1	A	G	3: 37,065,885 (GRCm39)	N53S		Het
Camk2b	T	A	11: 5,929,711 (GRCm39)	D396V	probably damaging	Het
Cd53	T	A	3: 106,674,683 (GRCm39)	D128V	probably null	Het
Cdk15	G	T	1: 59,326,943 (GRCm39)	R208L	probably damaging	Het
Celsr1	T	G	15: 85,785,346 (GRCm39)	K2963Q	probably damaging	Het
Celsr2	A	G	3: 108,301,074 (GRCm39)	S2740P	probably damaging	Het
Clca4b	A	T	3: 144,632,964 (GRCm39)	L162H	probably damaging	Het
Cntn1	A	T	15: 92,189,644 (GRCm39)	T656S	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Dpy19l2	A	G	9: 24,530,459 (GRCm39)	Y507H	probably damaging	Het
Dsc3	A	T	18: 20,122,752 (GRCm39)	C57*	probably null	Het
Gramd1b	A	G	9: 40,217,689 (GRCm39)	Y621H	probably damaging	Het
Ifi207	A	T	1: 173,556,522 (GRCm39)	C739S	probably benign	Het
Il1rap	T	C	16: 26,541,702 (GRCm39)	S648P	probably benign	Het
Ints5	C	T	19: 8,872,686 (GRCm39)	T215I	probably damaging	Het
Itm2c	T	C	1: 85,834,255 (GRCm39)		probably null	Het
Lmo7	T	A	14: 102,137,907 (GRCm39)	S870T	probably benign	Het
Lrpprc	A	T	17: 85,015,548 (GRCm39)	F1288I	probably damaging	Het
Megf11	A	T	9: 64,547,376 (GRCm39)	H209L	probably damaging	Het
Mtss1	C	T	15: 58,926,869 (GRCm39)	R69H	probably damaging	Het
Nms	A	T	1: 38,980,982 (GRCm39)	H56L	probably benign	Het
Or4f54	G	A	2: 111,122,736 (GRCm39)	G41D	probably damaging	Het
Or4k36	C	T	2: 111,146,288 (GRCm39)	H155Y	probably damaging	Het
Or56a5	A	T	7: 104,793,497 (GRCm39)	M7K	possibly damaging	Het
Or5t17	T	C	2: 86,833,140 (GRCm39)	S276P	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pskh1	C	T	8: 106,639,598 (GRCm39)	R93*	probably null	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sec31b	C	A	19: 44,509,021 (GRCm39)	V653F	probably damaging	Het
Slc10a2	A	G	8: 5,139,047 (GRCm39)	V299A		Het
Slc6a15	A	G	10: 103,229,277 (GRCm39)	I105M	probably benign	Het
Smurf1	A	G	5: 144,833,395 (GRCm39)	V209A		Het
Snapc2	A	G	8: 4,304,591 (GRCm39)	E115G	probably damaging	Het
Sorcs2	T	C	5: 36,199,529 (GRCm39)	E592G	possibly damaging	Het
Spmip6	G	A	4: 41,508,614 (GRCm39)	P17L		Het
Styxl2	T	A	1: 165,926,410 (GRCm39)	K1067N	probably damaging	Het
Tcl1b1	A	T	12: 105,130,823 (GRCm39)	Q102L	probably damaging	Het
Tmc1	T	A	19: 20,801,644 (GRCm39)	N461Y	probably benign	Het
Trim59	C	A	3: 68,945,134 (GRCm39)	G69C	probably damaging	Het
Tubg1	A	G	11: 101,017,003 (GRCm39)	Y435C	probably damaging	Het
Ucp3	A	C	7: 100,131,911 (GRCm39)	H254P	probably benign	Het
Vav2	T	C	2: 27,157,276 (GRCm39)	D842G	probably damaging	Het
Vmn1r203	T	A	13: 22,708,423 (GRCm39)	L68H	probably damaging	Het
Wee2	A	G	6: 40,421,057 (GRCm39)	E49G	probably benign	Het
Zfr	A	G	15: 12,180,706 (GRCm39)		probably null	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
R4524:Arid1b	UTSW	17	5,147,895 (GRCm39)	missense	possibly damaging	0.93
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
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'- ACAACCATTATCCGGGCTACAG -3'
(R):5'- CCGGGTGACTCCTTTGTTGC -3'

Sequencing Primer
(F):5'- GGCAGCAGGAGCCGGAG -3'
(R):5'- TAGGTCCTTGCCCAAGCC -3'

Posted On

2022-07-18