Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00581:Arid4b'

4341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid4b

Ensembl Gene

ENSMUSG00000039219

Gene Name

AT-rich interaction domain 4B

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00581

Quality Score

Status

Chromosome

Chromosomal Location

14238334-14374188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14334780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 330 (R330W)

Ref Sequence

ENSEMBL: ENSMUSP00000106162 (fasta)

Gene Model

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

AlphaFold

A2CG63

Predicted Effect

probably damaging
Transcript: ENSMUST00000039538
AA Change: R330W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: R330W

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 damaging
Transcript: ENSMUST00000110533
AA Change: R330W

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

SMART Domains

Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: R330W

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

probably damaging
Transcript: ENSMUST00000110534
AA Change: R330W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: R330W

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 damaging
Transcript: ENSMUST00000110536
AA Change: R330W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: R330W

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 damaging
Transcript: ENSMUST00000129488
AA Change: R330W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: R330W

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

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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	T	7: 131,039,225 (GRCm39)		probably benign	Het
Depdc1a	T	A	3: 159,232,189 (GRCm39)	C370S	probably benign	Het
Gan	C	T	8: 117,920,063 (GRCm39)	T353M	probably damaging	Het
Kif28	A	T	1: 179,567,522 (GRCm39)	S83T	probably benign	Het
Rps27l	A	T	9: 66,854,207 (GRCm39)	D34V	possibly damaging	Het
Rrm2b	A	G	15: 37,929,319 (GRCm39)	V77A	probably damaging	Het
Scap	T	C	9: 110,205,699 (GRCm39)	V369A	probably damaging	Het
Tmeff2	A	T	1: 51,224,609 (GRCm39)	N365I	probably damaging	Het
Zfp142	T	C	1: 74,606,131 (GRCm39)	D1612G	probably damaging	Het

Other mutations in Arid4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Arid4b	APN	13	14,365,719 (GRCm39)	unclassified	probably benign
IGL00808:Arid4b	APN	13	14,310,846 (GRCm39)	critical splice donor site	probably null
IGL01150:Arid4b	APN	13	14,369,959 (GRCm39)	nonsense	probably null
IGL01570:Arid4b	APN	13	14,361,394 (GRCm39)	unclassified	probably benign
IGL01942:Arid4b	APN	13	14,310,749 (GRCm39)	intron	probably benign
IGL02031:Arid4b	APN	13	14,327,997 (GRCm39)	splice site	probably benign
IGL02183:Arid4b	APN	13	14,344,575 (GRCm39)	missense	possibly damaging	0.68
R0096:Arid4b	UTSW	13	14,303,779 (GRCm39)	missense	probably benign	0.08
R0096:Arid4b	UTSW	13	14,303,779 (GRCm39)	missense	probably benign	0.08
R0514:Arid4b	UTSW	13	14,358,902 (GRCm39)	missense	probably damaging	1.00
R0694:Arid4b	UTSW	13	14,362,419 (GRCm39)	missense	probably damaging	0.96
R0746:Arid4b	UTSW	13	14,317,623 (GRCm39)	missense	probably benign	0.01
R1624:Arid4b	UTSW	13	14,358,979 (GRCm39)	missense	probably damaging	0.99
R1625:Arid4b	UTSW	13	14,361,699 (GRCm39)	missense	probably damaging	0.99
R1812:Arid4b	UTSW	13	14,370,014 (GRCm39)	missense	probably damaging	1.00
R1891:Arid4b	UTSW	13	14,310,821 (GRCm39)	missense	possibly damaging	0.94
R1990:Arid4b	UTSW	13	14,307,021 (GRCm39)	missense	probably damaging	0.99
R2051:Arid4b	UTSW	13	14,362,230 (GRCm39)	missense	probably damaging	0.98
R2060:Arid4b	UTSW	13	14,370,037 (GRCm39)	missense	probably damaging	1.00
R2344:Arid4b	UTSW	13	14,328,075 (GRCm39)	missense	probably benign	0.26
R3605:Arid4b	UTSW	13	14,294,826 (GRCm39)	missense	probably damaging	1.00
R3606:Arid4b	UTSW	13	14,294,826 (GRCm39)	missense	probably damaging	1.00
R3844:Arid4b	UTSW	13	14,361,645 (GRCm39)	missense	probably damaging	0.99
R3909:Arid4b	UTSW	13	14,307,069 (GRCm39)	missense	probably damaging	1.00
R3938:Arid4b	UTSW	13	14,361,513 (GRCm39)	missense	probably benign	0.34
R4394:Arid4b	UTSW	13	14,329,557 (GRCm39)	splice site	probably null
R4466:Arid4b	UTSW	13	14,307,095 (GRCm39)	missense	probably damaging	1.00
R4530:Arid4b	UTSW	13	14,301,040 (GRCm39)	missense	probably damaging	0.98
R4537:Arid4b	UTSW	13	14,294,746 (GRCm39)	nonsense	probably null
R4829:Arid4b	UTSW	13	14,359,023 (GRCm39)	missense	probably benign	0.23
R4930:Arid4b	UTSW	13	14,362,062 (GRCm39)	missense	probably damaging	0.99
R4972:Arid4b	UTSW	13	14,334,857 (GRCm39)	missense	probably benign	0.07
R5119:Arid4b	UTSW	13	14,338,866 (GRCm39)	missense	probably benign	0.15
R5236:Arid4b	UTSW	13	14,301,034 (GRCm39)	critical splice acceptor site	probably null
R5304:Arid4b	UTSW	13	14,361,514 (GRCm39)	missense	probably benign	0.34
R5439:Arid4b	UTSW	13	14,362,281 (GRCm39)	missense	probably damaging	0.99
R5734:Arid4b	UTSW	13	14,334,856 (GRCm39)	missense	probably benign	0.09
R5950:Arid4b	UTSW	13	14,365,849 (GRCm39)	splice site	probably benign
R5951:Arid4b	UTSW	13	14,317,648 (GRCm39)	missense	possibly damaging	0.80
R6645:Arid4b	UTSW	13	14,294,737 (GRCm39)	missense	probably damaging	1.00
R6765:Arid4b	UTSW	13	14,361,900 (GRCm39)	missense	possibly damaging	0.84
R6804:Arid4b	UTSW	13	14,303,792 (GRCm39)	missense	probably benign	0.44
R7342:Arid4b	UTSW	13	14,310,804 (GRCm39)	missense	probably benign	0.03
R7354:Arid4b	UTSW	13	14,339,455 (GRCm39)	missense	probably benign	0.19
R7426:Arid4b	UTSW	13	14,355,891 (GRCm39)	critical splice donor site	probably null
R7863:Arid4b	UTSW	13	14,338,734 (GRCm39)	missense	probably benign	0.01
R8070:Arid4b	UTSW	13	14,310,844 (GRCm39)	missense	probably benign	0.32
R8076:Arid4b	UTSW	13	14,361,535 (GRCm39)	missense	probably benign	0.01
R8239:Arid4b	UTSW	13	14,344,594 (GRCm39)	missense	probably benign
R8303:Arid4b	UTSW	13	14,294,808 (GRCm39)	missense	probably damaging	1.00
R9047:Arid4b	UTSW	13	14,355,815 (GRCm39)	missense	probably damaging	1.00
R9799:Arid4b	UTSW	13	14,358,967 (GRCm39)	missense	probably benign

Posted On

2012-04-20