Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Arid4b'

284339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid4b

Ensembl Gene

ENSMUSG00000039219

Gene Name

AT rich interactive domain 4B (RBP1-like)

Synonyms

6720480E17Rik, RBBP1L1, Rbp1l1, BRCAA1, SAP180, 6330417L24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

14063232-14199603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14169990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 551 (E551G)

Ref Sequence

ENSEMBL: ENSMUSP00000106163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110533] [ENSMUST00000110534] [ENSMUST00000110536] [ENSMUST00000129488]

AlphaFold

A2CG63

Predicted Effect

probably benign
Transcript: ENSMUST00000039538

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	3.4e-46	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
low complexity region	543	562	N/A	INTRINSIC
low complexity region	621	635	N/A	INTRINSIC
low complexity region	704	713	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	769	785	N/A	INTRINSIC
low complexity region	937	949	N/A	INTRINSIC
low complexity region	954	964	N/A	INTRINSIC
low complexity region	1002	1016	N/A	INTRINSIC
low complexity region	1054	1068	N/A	INTRINSIC
coiled coil region	1145	1182	N/A	INTRINSIC
low complexity region	1186	1204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110533

SMART Domains

Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	9.5e-48	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110534
AA Change: E551G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: E551G

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	168	263	4.1e-39	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
TUDOR	567	632	1.91e1	SMART
CHROMO	585	640	1.29e-1	SMART
low complexity region	708	722	N/A	INTRINSIC
low complexity region	791	800	N/A	INTRINSIC
low complexity region	802	815	N/A	INTRINSIC
low complexity region	856	872	N/A	INTRINSIC
low complexity region	1024	1036	N/A	INTRINSIC
low complexity region	1041	1051	N/A	INTRINSIC
low complexity region	1089	1103	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
coiled coil region	1232	1269	N/A	INTRINSIC
low complexity region	1273	1291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110536

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	3.4e-46	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
low complexity region	543	562	N/A	INTRINSIC
low complexity region	621	635	N/A	INTRINSIC
low complexity region	704	713	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	769	785	N/A	INTRINSIC
low complexity region	937	949	N/A	INTRINSIC
low complexity region	954	964	N/A	INTRINSIC
low complexity region	1002	1016	N/A	INTRINSIC
low complexity region	1054	1068	N/A	INTRINSIC
coiled coil region	1145	1182	N/A	INTRINSIC
low complexity region	1186	1204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129488

SMART Domains

Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	1.8e-46	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
low complexity region	533	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221111

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die pre-implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Arid4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Arid4b	APN	13	14191134	unclassified	probably benign
IGL00581:Arid4b	APN	13	14160195	missense	probably damaging	1.00
IGL00808:Arid4b	APN	13	14136261	critical splice donor site	probably null
IGL01150:Arid4b	APN	13	14195374	nonsense	probably null
IGL01570:Arid4b	APN	13	14186809	unclassified	probably benign
IGL01942:Arid4b	APN	13	14136164	intron	probably benign
IGL02031:Arid4b	APN	13	14153412	splice site	probably benign
R0096:Arid4b	UTSW	13	14129194	missense	probably benign	0.08
R0096:Arid4b	UTSW	13	14129194	missense	probably benign	0.08
R0514:Arid4b	UTSW	13	14184317	missense	probably damaging	1.00
R0694:Arid4b	UTSW	13	14187834	missense	probably damaging	0.96
R0746:Arid4b	UTSW	13	14143038	missense	probably benign	0.01
R1624:Arid4b	UTSW	13	14184394	missense	probably damaging	0.99
R1625:Arid4b	UTSW	13	14187114	missense	probably damaging	0.99
R1812:Arid4b	UTSW	13	14195429	missense	probably damaging	1.00
R1891:Arid4b	UTSW	13	14136236	missense	possibly damaging	0.94
R1990:Arid4b	UTSW	13	14132436	missense	probably damaging	0.99
R2051:Arid4b	UTSW	13	14187645	missense	probably damaging	0.98
R2060:Arid4b	UTSW	13	14195452	missense	probably damaging	1.00
R2344:Arid4b	UTSW	13	14153490	missense	probably benign	0.26
R3605:Arid4b	UTSW	13	14120241	missense	probably damaging	1.00
R3606:Arid4b	UTSW	13	14120241	missense	probably damaging	1.00
R3844:Arid4b	UTSW	13	14187060	missense	probably damaging	0.99
R3909:Arid4b	UTSW	13	14132484	missense	probably damaging	1.00
R3938:Arid4b	UTSW	13	14186928	missense	probably benign	0.34
R4394:Arid4b	UTSW	13	14154972	splice site	probably null
R4466:Arid4b	UTSW	13	14132510	missense	probably damaging	1.00
R4530:Arid4b	UTSW	13	14126455	missense	probably damaging	0.98
R4537:Arid4b	UTSW	13	14120161	nonsense	probably null
R4829:Arid4b	UTSW	13	14184438	missense	probably benign	0.23
R4930:Arid4b	UTSW	13	14187477	missense	probably damaging	0.99
R4972:Arid4b	UTSW	13	14160272	missense	probably benign	0.07
R5119:Arid4b	UTSW	13	14164281	missense	probably benign	0.15
R5236:Arid4b	UTSW	13	14126449	critical splice acceptor site	probably null
R5304:Arid4b	UTSW	13	14186929	missense	probably benign	0.34
R5439:Arid4b	UTSW	13	14187696	missense	probably damaging	0.99
R5734:Arid4b	UTSW	13	14160271	missense	probably benign	0.09
R5950:Arid4b	UTSW	13	14191264	splice site	probably benign
R5951:Arid4b	UTSW	13	14143063	missense	possibly damaging	0.80
R6645:Arid4b	UTSW	13	14120152	missense	probably damaging	1.00
R6765:Arid4b	UTSW	13	14187315	missense	possibly damaging	0.84
R6804:Arid4b	UTSW	13	14129207	missense	probably benign	0.44
R7342:Arid4b	UTSW	13	14136219	missense	probably benign	0.03
R7354:Arid4b	UTSW	13	14164870	missense	probably benign	0.19
R7426:Arid4b	UTSW	13	14181306	critical splice donor site	probably null
R7863:Arid4b	UTSW	13	14164149	missense	probably benign	0.01
R8070:Arid4b	UTSW	13	14136259	missense	probably benign	0.32
R8076:Arid4b	UTSW	13	14186950	missense	probably benign	0.01
R8239:Arid4b	UTSW	13	14170009	missense	probably benign
R8303:Arid4b	UTSW	13	14120223	missense	probably damaging	1.00
R9047:Arid4b	UTSW	13	14181230	missense	probably damaging	1.00
R9799:Arid4b	UTSW	13	14184382	missense	probably benign

Posted On

2015-04-16