Mutagenetix > Incidental Mutation

Incidental Mutation 'R8374:Arid1b'

646597

Institutional Source

Beutler Lab

Gene Symbol

Arid1b

Ensembl Gene

ENSMUSG00000069729

Gene Name

AT-rich interaction domain 1B

Synonyms

9330189K18Rik, B230217J03Rik

MMRRC Submission

067742-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R8374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5044607-5397931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5392919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 2097 (P2097S)

Ref Sequence

ENSEMBL: ENSMUSP00000090398 (fasta)

Gene Model

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

AlphaFold

E9Q4N7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092723
AA Change: P2097S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090398
Gene: ENSMUSG00000069729
AA Change: P2097S

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: P2098S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: P2098S

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: P1616S

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729
AA Change: P1616S

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: P2150S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	C	T	9: 30,814,002 (GRCm39)	G721E	probably benign	Het
Aip	A	T	19: 4,165,456 (GRCm39)	M170K	probably damaging	Het
Alms1	T	C	6: 85,585,973 (GRCm39)	I276T	probably benign	Het
Astn1	T	G	1: 158,329,803 (GRCm39)	N219K	probably damaging	Het
Cbx2	G	T	11: 118,918,969 (GRCm39)	R178L	probably damaging	Het
Clptm1	G	A	7: 19,372,081 (GRCm39)	P252S	probably benign	Het
Crebbp	A	G	16: 3,902,175 (GRCm39)	S2355P	probably damaging	Het
D130043K22Rik	C	A	13: 25,041,962 (GRCm39)	T297K	probably benign	Het
Ddx60	A	G	8: 62,427,205 (GRCm39)	D760G	probably benign	Het
Dgka	T	C	10: 128,557,112 (GRCm39)	N621S	probably benign	Het
Ear10	A	T	14: 44,160,645 (GRCm39)	C61S	probably damaging	Het
F12	A	T	13: 55,569,144 (GRCm39)	C238S	probably damaging	Het
Fen1	A	G	19: 10,177,824 (GRCm39)	F207L	probably benign	Het
Fzr1	A	G	10: 81,203,368 (GRCm39)	L486P	probably damaging	Het
Gdnf	A	G	15: 7,864,176 (GRCm39)	R196G	probably benign	Het
Gldc	A	C	19: 30,114,594 (GRCm39)	F439V	probably damaging	Het
Gm3138	T	C	14: 4,251,688 (GRCm38)	M120T	probably damaging	Het
Gpi1	G	A	7: 33,920,082 (GRCm39)	A197V	probably benign	Het
Ighv1-4	T	A	12: 114,450,899 (GRCm39)	I70F	probably benign	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Kank1	A	T	19: 25,389,005 (GRCm39)	I893F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif13b	T	C	14: 65,025,884 (GRCm39)	S1414P	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mosmo	T	A	7: 120,329,715 (GRCm39)	M112K	probably benign	Het
Ntmt2	A	T	1: 163,530,617 (GRCm39)	M274K	probably damaging	Het
Or2d2b	A	G	7: 106,706,033 (GRCm39)	F12L	probably damaging	Het
Or2h1b	C	A	17: 37,462,636 (GRCm39)	V76F	probably damaging	Het
Or2w3b	T	A	11: 58,623,724 (GRCm39)	D89V	probably damaging	Het
Pak6	G	A	2: 118,524,477 (GRCm39)	V497I	probably benign	Het
Ppargc1b	G	A	18: 61,443,564 (GRCm39)	S549F	probably damaging	Het
Rassf8	T	A	6: 145,760,863 (GRCm39)	L63*	probably null	Het
Rptn	G	T	3: 93,303,602 (GRCm39)	G312*	probably null	Het
Rsph14	T	C	10: 74,797,481 (GRCm39)	I169V	probably benign	Het
Sltm	A	G	9: 70,469,227 (GRCm39)	D162G	probably null	Het
Tatdn1	C	T	15: 58,788,000 (GRCm39)		probably null	Het
Tbx4	A	C	11: 85,805,102 (GRCm39)	E397A	probably benign	Het
Tdrd12	T	C	7: 35,177,486 (GRCm39)	D956G	unknown	Het
Tnr	G	A	1: 159,685,953 (GRCm39)	V395I	probably benign	Het
Ugt1a2	A	T	1: 88,129,107 (GRCm39)	H250L	possibly damaging	Het
Vmn1r173	C	T	7: 23,401,920 (GRCm39)	H52Y	probably damaging	Het
Vps11	T	C	9: 44,267,706 (GRCm39)	D302G	probably benign	Het
Zfp398	T	C	6: 47,836,468 (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
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'- ACATTTCCGGGCAGCTAGAC -3'
(R):5'- CTAGGAAGCTTATCAAGTTACCAATGC -3'

Sequencing Primer
(F):5'- TGTCTGCTTACACAGAGAGC -3'
(R):5'- ACCAATGCTTCCTTTCTGCACAG -3'

Posted On

2020-09-02