Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Arid1b'

282046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid1b

Ensembl Gene

ENSMUSG00000069729

Gene Name

AT-rich interaction domain 1B

Synonyms

9330189K18Rik, B230217J03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

5044607-5397931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5364243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1019 (S1019F)

Ref Sequence

ENSEMBL: ENSMUSP00000111463 (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: S1019F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: S1019F

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: S537F

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

SMART Domains

Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729
AA Change: S537F

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: S1071F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		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
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
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

Posted On

2015-04-16