Mutagenetix > Incidental Mutation

Incidental Mutation 'R4458:Arid1b'

330035

Institutional Source

Beutler Lab

Gene Symbol

Arid1b

Ensembl Gene

ENSMUSG00000069729

Gene Name

AT-rich interaction domain 1B

Synonyms

9330189K18Rik, B230217J03Rik

MMRRC Submission

041718-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R4458 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5044607-5397931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5293191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 703 (Q703L)

Ref Sequence

ENSEMBL: ENSMUSP00000090398 (fasta)

Gene Model

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

AlphaFold

E9Q4N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000092723
AA Change: Q703L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090398
Gene: ENSMUSG00000069729
AA Change: Q703L

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: Q651L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: Q651L

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: Q199L

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729
AA Change: Q199L

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: Q703L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	G	A	3: 107,139,997 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Ankrd44	A	T	1: 54,801,550 (GRCm39)	I56N	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Arhgap5	T	A	12: 52,564,740 (GRCm39)	N570K	probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cad	T	A	5: 31,218,570 (GRCm39)	V499D	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr2	A	C	3: 108,302,313 (GRCm39)	I2605S	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Clec18a	T	A	8: 111,802,102 (GRCm39)	T296S	probably damaging	Het
Crybg2	C	T	4: 133,802,205 (GRCm39)	P1122S	probably benign	Het
Cyld	G	T	8: 89,445,929 (GRCm39)	S309I	probably benign	Het
Dctn5	G	T	7: 121,734,303 (GRCm39)	R49L	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,970,065 (GRCm39)	V1184F	probably damaging	Het
Ercc2	G	T	7: 19,127,771 (GRCm39)	R406L	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Flad1	T	C	3: 89,316,241 (GRCm39)	H107R	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gabbr1	G	T	17: 37,378,667 (GRCm39)		probably null	Het
Haghl	A	T	17: 26,003,994 (GRCm39)	V30E	probably damaging	Het
Itga5	C	T	15: 103,258,630 (GRCm39)	E822K	probably damaging	Het
Klhl26	T	A	8: 70,905,342 (GRCm39)	E108D	possibly damaging	Het
Kpnb1	A	T	11: 97,059,996 (GRCm39)	L558Q	probably damaging	Het
Lias	T	C	5: 65,551,383 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,583,502 (GRCm39)	K434M	possibly damaging	Het
Marchf1	C	A	8: 66,908,823 (GRCm39)	A177E	probably damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nol4	T	C	18: 22,885,052 (GRCm39)	I419V	probably damaging	Het
Nol6	A	G	4: 41,115,888 (GRCm39)	L1068P	probably damaging	Het
Nrcam	T	C	12: 44,606,513 (GRCm39)	S420P	probably damaging	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Pitpnm2	T	C	5: 124,259,439 (GRCm39)	T1299A	probably benign	Het
Prdm16	A	G	4: 154,406,765 (GRCm39)	V1220A	probably benign	Het
Saraf	T	C	8: 34,621,870 (GRCm39)	S25P	unknown	Het
Serpine3	C	A	14: 62,911,922 (GRCm39)	L295I	probably damaging	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Surf6	T	C	2: 26,782,721 (GRCm39)	E202G	probably benign	Het
Tent5a	T	C	9: 85,208,527 (GRCm39)	I99V	possibly damaging	Het
Th	A	T	7: 142,450,690 (GRCm39)	D135E	probably benign	Het
Traf1	A	G	2: 34,835,445 (GRCm39)	Y326H	probably damaging	Het
Tshz2	G	A	2: 169,727,008 (GRCm39)	A66T	probably benign	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Ubqlnl	A	G	7: 103,798,396 (GRCm39)	V367A	probably benign	Het
Uspl1	T	A	5: 149,150,962 (GRCm39)	S707T	possibly damaging	Het
Utp18	A	G	11: 93,761,359 (GRCm39)	S350P	possibly damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn1r229	A	G	17: 21,034,894 (GRCm39)	I46M	probably damaging	Het
Vnn3	T	C	10: 23,741,567 (GRCm39)	Y291H	probably benign	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Wrn	T	A	8: 33,785,026 (GRCm39)	T692S	probably damaging	Het
Yeats2	T	C	16: 20,032,071 (GRCm39)	I19T	probably damaging	Het
Zfp13	G	A	17: 23,800,150 (GRCm39)	A36V	probably benign	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
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
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'- GCACTGTGGCTTTCAAACC -3'
(R):5'- CCAGACCTGTCTTCACATGG -3'

Sequencing Primer
(F):5'- AAACCATGCTTCCCGTGC -3'
(R):5'- ACCTGTCTTCACATGGGGCTG -3'

Posted On

2015-07-21