Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01631:Arid4a'

93476

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid4a

Ensembl Gene

ENSMUSG00000048118

Gene Name

AT-rich interaction domain 4A

Synonyms

A630067N03Rik, Rbbp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01631

Quality Score

Status

Chromosome

Chromosomal Location

71062764-71145366 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 71069036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046305] [ENSMUST00000125125]

AlphaFold

F8VPQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000046305

SMART Domains

Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
TUDOR	58	114	3.6e-12	SMART
low complexity region	152	167	N/A	INTRINSIC
Pfam:RBB1NT	170	262	4e-32	PFAM
ARID	306	397	6.7e-37	SMART
BRIGHT	310	402	2.3e-40	SMART
low complexity region	411	422	N/A	INTRINSIC
CHROMO	483	652	6.8e-6	SMART
low complexity region	690	707	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	991	1003	N/A	INTRINSIC
coiled coil region	1185	1224	N/A	INTRINSIC
low complexity region	1229	1252	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125125

SMART Domains

Protein: ENSMUSP00000121109
Gene: ENSMUSG00000048118

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
TUDOR	58	114	5.53e-10	SMART
low complexity region	152	167	N/A	INTRINSIC
Pfam:RBB1NT	168	263	6e-49	PFAM
low complexity region	267	295	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134718

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	A	2: 102,904,194 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,847,666 (GRCm39)	E98D	probably damaging	Het
Cactin	A	G	10: 81,159,058 (GRCm39)	E303G	probably benign	Het
Ccdc181	T	A	1: 164,107,713 (GRCm39)	I132K	possibly damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cog4	A	G	8: 111,608,472 (GRCm39)	E756G	probably damaging	Het
Ctsf	T	C	19: 4,908,106 (GRCm39)	L217P	probably damaging	Het
Dmp1	G	T	5: 104,360,734 (GRCm39)	R470L	probably benign	Het
Dnajc9	T	C	14: 20,438,176 (GRCm39)	D142G	probably benign	Het
Ednrb	T	A	14: 104,080,661 (GRCm39)	R84S	probably benign	Het
Gm1110	A	T	9: 26,809,212 (GRCm39)		probably null	Het
Has2	A	G	15: 56,545,072 (GRCm39)	S177P	possibly damaging	Het
Herc6	C	T	6: 57,581,092 (GRCm39)	S264F	probably benign	Het
Il1rl2	T	A	1: 40,395,974 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,855,920 (GRCm39)		probably null	Het
Map4	A	G	9: 109,892,201 (GRCm39)		probably benign	Het
Marchf4	T	A	1: 72,491,690 (GRCm39)	K194*	probably null	Het
Megf10	A	G	18: 57,392,869 (GRCm39)	D422G	possibly damaging	Het
Mfsd2a	C	A	4: 122,843,100 (GRCm39)	A394S	probably benign	Het
Mmp27	T	C	9: 7,573,289 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,161,560 (GRCm39)	Y370H	possibly damaging	Het
Or4a81	T	C	2: 89,619,129 (GRCm39)	D189G	probably damaging	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Pramel31	A	G	4: 144,089,015 (GRCm39)	H111R	probably benign	Het
Ptk2	G	A	15: 73,088,220 (GRCm39)	H859Y	probably damaging	Het
Ptprq	T	A	10: 107,479,399 (GRCm39)	E1209D	probably benign	Het
Rhot1	C	T	11: 80,156,600 (GRCm39)	T636M	probably damaging	Het
Ripk2	C	A	4: 16,163,342 (GRCm39)	A19S	possibly damaging	Het
Rsbn1l	G	A	5: 21,101,569 (GRCm39)	S657L	probably damaging	Het
Rsbn1l	A	T	5: 21,101,570 (GRCm39)	S657T	probably damaging	Het
Sema6c	A	G	3: 95,077,714 (GRCm39)	T450A	probably benign	Het
Slc25a1	C	T	16: 17,743,930 (GRCm39)	C262Y	probably damaging	Het
Slfn3	T	C	11: 83,104,361 (GRCm39)	S288P	probably damaging	Het
Snrnp200	T	A	2: 127,080,744 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,495 (GRCm39)	I228M	probably damaging	Het
Ssu2	T	C	6: 112,351,843 (GRCm39)	Y294C	probably damaging	Het
Terb1	A	G	8: 105,199,496 (GRCm39)	S483P	probably damaging	Het
Tsga13	T	C	6: 30,890,501 (GRCm39)	K8E	possibly damaging	Het
Zbbx	T	G	3: 74,985,984 (GRCm39)	D351A	probably damaging	Het
Zfp454	G	T	11: 50,774,562 (GRCm39)	A37D	probably benign	Het

Other mutations in Arid4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Arid4a	APN	12	71,119,367 (GRCm39)	missense	probably damaging	1.00
IGL00546:Arid4a	APN	12	71,122,445 (GRCm39)	missense	probably benign
IGL00553:Arid4a	APN	12	71,122,751 (GRCm39)	missense	probably benign	0.04
IGL00708:Arid4a	APN	12	71,119,502 (GRCm39)	missense	probably benign	0.02
IGL00847:Arid4a	APN	12	71,122,492 (GRCm39)	missense	probably damaging	1.00
IGL01112:Arid4a	APN	12	71,119,507 (GRCm39)	critical splice donor site	probably null
IGL01456:Arid4a	APN	12	71,114,036 (GRCm39)	missense	probably benign	0.00
IGL01505:Arid4a	APN	12	71,083,889 (GRCm39)	missense	probably damaging	1.00
IGL01555:Arid4a	APN	12	71,108,301 (GRCm39)	splice site	probably benign
IGL02958:Arid4a	APN	12	71,144,337 (GRCm39)	missense	probably benign	0.01
IGL03087:Arid4a	APN	12	71,122,019 (GRCm39)	missense	possibly damaging	0.94
IGL03111:Arid4a	APN	12	71,086,740 (GRCm39)	missense	probably damaging	1.00
IGL03234:Arid4a	APN	12	71,091,834 (GRCm39)	missense	probably benign	0.34
After_8	UTSW	12	71,070,272 (GRCm39)	critical splice acceptor site	probably null
ariano	UTSW	12	71,116,634 (GRCm39)	nonsense	probably null
Dusty	UTSW	12	71,106,867 (GRCm39)	missense	probably damaging	1.00
guava	UTSW	12	71,119,406 (GRCm39)	missense	probably damaging	0.99
limoncello	UTSW	12	71,114,115 (GRCm39)	splice site	probably null
Sahara	UTSW	12	71,106,889 (GRCm39)	nonsense	probably null
Under_8	UTSW	12	71,109,980 (GRCm39)	missense	probably benign	0.10
R0047:Arid4a	UTSW	12	71,122,193 (GRCm39)	missense	probably damaging	1.00
R0047:Arid4a	UTSW	12	71,122,193 (GRCm39)	missense	probably damaging	1.00
R0270:Arid4a	UTSW	12	71,119,406 (GRCm39)	missense	probably damaging	0.99
R0310:Arid4a	UTSW	12	71,122,604 (GRCm39)	missense	probably benign	0.05
R0504:Arid4a	UTSW	12	71,093,988 (GRCm39)	missense	probably damaging	1.00
R1061:Arid4a	UTSW	12	71,121,729 (GRCm39)	missense	probably damaging	1.00
R1087:Arid4a	UTSW	12	71,122,112 (GRCm39)	missense	probably benign	0.01
R1169:Arid4a	UTSW	12	71,122,112 (GRCm39)	missense	probably benign	0.01
R1171:Arid4a	UTSW	12	71,122,112 (GRCm39)	missense	probably benign	0.01
R1531:Arid4a	UTSW	12	71,122,779 (GRCm39)	missense	probably benign	0.01
R1674:Arid4a	UTSW	12	71,122,112 (GRCm39)	missense	probably benign	0.01
R1676:Arid4a	UTSW	12	71,122,112 (GRCm39)	missense	probably benign	0.01
R1768:Arid4a	UTSW	12	71,122,112 (GRCm39)	missense	probably benign	0.01
R1833:Arid4a	UTSW	12	71,122,240 (GRCm39)	missense	possibly damaging	0.50
R1878:Arid4a	UTSW	12	71,134,363 (GRCm39)	missense	probably damaging	1.00
R2290:Arid4a	UTSW	12	71,108,315 (GRCm39)	missense	probably damaging	1.00
R2292:Arid4a	UTSW	12	71,108,315 (GRCm39)	missense	probably damaging	1.00
R2871:Arid4a	UTSW	12	71,069,034 (GRCm39)	critical splice donor site	probably null
R2871:Arid4a	UTSW	12	71,069,034 (GRCm39)	critical splice donor site	probably null
R3411:Arid4a	UTSW	12	71,108,299 (GRCm39)	splice site	probably benign
R3768:Arid4a	UTSW	12	71,113,893 (GRCm39)	missense	probably damaging	1.00
R3838:Arid4a	UTSW	12	71,122,559 (GRCm39)	missense	possibly damaging	0.94
R4320:Arid4a	UTSW	12	71,116,769 (GRCm39)	missense	possibly damaging	0.69
R4589:Arid4a	UTSW	12	71,116,738 (GRCm39)	missense	probably damaging	1.00
R4829:Arid4a	UTSW	12	71,070,272 (GRCm39)	critical splice acceptor site	probably null
R4862:Arid4a	UTSW	12	71,122,721 (GRCm39)	missense	probably damaging	0.96
R4952:Arid4a	UTSW	12	71,070,299 (GRCm39)	missense	possibly damaging	0.64
R5072:Arid4a	UTSW	12	71,091,853 (GRCm39)	missense	probably benign	0.08
R5423:Arid4a	UTSW	12	71,116,634 (GRCm39)	nonsense	probably null
R5767:Arid4a	UTSW	12	71,106,867 (GRCm39)	missense	probably damaging	1.00
R5911:Arid4a	UTSW	12	71,116,747 (GRCm39)	missense	probably damaging	1.00
R5952:Arid4a	UTSW	12	71,109,980 (GRCm39)	missense	probably benign	0.10
R6088:Arid4a	UTSW	12	71,069,010 (GRCm39)	missense	probably damaging	0.99
R6235:Arid4a	UTSW	12	71,116,546 (GRCm39)	splice site	probably null
R6277:Arid4a	UTSW	12	71,086,665 (GRCm39)	missense	possibly damaging	0.49
R6455:Arid4a	UTSW	12	71,121,862 (GRCm39)	missense	probably benign	0.04
R6523:Arid4a	UTSW	12	71,114,115 (GRCm39)	splice site	probably null
R6701:Arid4a	UTSW	12	71,134,286 (GRCm39)	missense	probably damaging	1.00
R6812:Arid4a	UTSW	12	71,094,037 (GRCm39)	missense	possibly damaging	0.92
R6815:Arid4a	UTSW	12	71,063,856 (GRCm39)	splice site	probably null
R6837:Arid4a	UTSW	12	71,122,289 (GRCm39)	missense	probably benign
R6858:Arid4a	UTSW	12	71,070,283 (GRCm39)	missense	probably benign	0.01
R6895:Arid4a	UTSW	12	71,110,076 (GRCm39)	missense	probably benign	0.18
R6901:Arid4a	UTSW	12	71,113,911 (GRCm39)	missense	probably damaging	0.99
R6905:Arid4a	UTSW	12	71,108,318 (GRCm39)	missense	probably benign	0.43
R7387:Arid4a	UTSW	12	71,134,270 (GRCm39)	missense	probably damaging	1.00
R7570:Arid4a	UTSW	12	71,109,916 (GRCm39)	nonsense	probably null
R7772:Arid4a	UTSW	12	71,108,363 (GRCm39)	missense	possibly damaging	0.65
R8194:Arid4a	UTSW	12	71,106,889 (GRCm39)	nonsense	probably null
R8206:Arid4a	UTSW	12	71,133,361 (GRCm39)	missense	probably damaging	1.00
R8552:Arid4a	UTSW	12	71,106,849 (GRCm39)	missense	probably benign
R8696:Arid4a	UTSW	12	71,110,090 (GRCm39)	missense	probably damaging	1.00
R9015:Arid4a	UTSW	12	71,122,168 (GRCm39)	missense	possibly damaging	0.89
R9109:Arid4a	UTSW	12	71,122,129 (GRCm39)	missense	probably damaging	1.00
R9450:Arid4a	UTSW	12	71,119,374 (GRCm39)	missense
Z1176:Arid4a	UTSW	12	71,086,694 (GRCm39)	missense	possibly damaging	0.89
Z1177:Arid4a	UTSW	12	71,122,411 (GRCm39)	missense	possibly damaging	0.82

Posted On

2013-12-09