Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Arid4a'

12474

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 #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

71062764-71145366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71122492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 958 (P958S)

Ref Sequence

ENSEMBL: ENSMUSP00000035512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046305] [ENSMUST00000135709]

AlphaFold

F8VPQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046305
AA Change: P958S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: P958S

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: ENSMUST00000135709

SMART Domains

Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118

Domain	Start	End	E-Value	Type
ARID	1	75	1.02e-16	SMART
BRIGHT	1	80	2.05e-23	SMART
low complexity region	89	100	N/A	INTRINSIC
CHROMO	161	330	1.08e-3	SMART
low complexity region	368	385	N/A	INTRINSIC

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	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
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
IGL01631:Arid4a	APN	12	71,069,036 (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

2012-12-06