Mutagenetix > Incidental Mutation

Incidental Mutation 'R1087:Arid4a'

85083

Institutional Source

Beutler Lab

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 #

R1087 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71062764-71145366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71122112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 509 (S509N)

Ref Sequence

ENSEMBL: ENSMUSP00000121319 (fasta)

Gene Model

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

AlphaFold

F8VPQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000046305
AA Change: S831N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: S831N

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
AA Change: S509N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: S509N

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	A	G	14: 25,870,603 (GRCm39)	M56V	unknown	Het
Atp8b3	T	C	10: 80,356,017 (GRCm39)	R1232G	probably benign	Het
Axdnd1	T	A	1: 156,193,259 (GRCm39)	M643L	probably benign	Het
Bsph1	A	G	7: 13,206,106 (GRCm39)	Y57C	probably damaging	Het
Car13	G	A	3: 14,706,885 (GRCm39)	W6*	probably null	Het
Ccdc192	T	C	18: 57,863,870 (GRCm39)	S225P	probably damaging	Het
Ccng2	T	C	5: 93,421,303 (GRCm39)	I271T	probably benign	Het
Ces1f	T	A	8: 93,984,923 (GRCm39)	D468V	probably damaging	Het
Chil4	A	G	3: 106,117,881 (GRCm39)	Y130H	probably benign	Het
Clns1a	T	A	7: 97,354,862 (GRCm39)	H69Q	possibly damaging	Het
Cnot11	T	A	1: 39,579,139 (GRCm39)	S335T	probably benign	Het
Dcaf11	A	G	14: 55,806,581 (GRCm39)	S461G	probably damaging	Het
Dlst	G	A	12: 85,179,413 (GRCm39)	M417I	probably damaging	Het
Dock4	A	C	12: 40,779,937 (GRCm39)	I612L	probably benign	Het
Endod1	A	G	9: 14,268,489 (GRCm39)	V332A	possibly damaging	Het
F830045P16Rik	T	C	2: 129,314,639 (GRCm39)	T213A	possibly damaging	Het
Gm5773	A	T	3: 93,681,065 (GRCm39)	I246F	probably damaging	Het
Gml2	T	A	15: 74,695,946 (GRCm39)	D113E	possibly damaging	Het
Grik1	T	C	16: 87,803,265 (GRCm39)	E309G	probably benign	Het
Hectd1	A	T	12: 51,823,355 (GRCm39)	I1013K	probably damaging	Het
Kcmf1	T	C	6: 72,835,863 (GRCm39)	E22G	probably damaging	Het
Kdm5b	T	A	1: 134,528,375 (GRCm39)	C361S	probably damaging	Het
Kif21b	T	C	1: 136,090,561 (GRCm39)	S1150P	probably damaging	Het
Man2b1	G	A	8: 85,821,800 (GRCm39)	V701M	probably damaging	Het
Marchf10	T	C	11: 105,281,488 (GRCm39)	R266G	probably damaging	Het
Milr1	A	G	11: 106,645,848 (GRCm39)	Y130C	probably damaging	Het
Nampt	A	G	12: 32,883,042 (GRCm39)	T76A	possibly damaging	Het
Nek10	A	G	14: 14,827,059 (GRCm38)	N86D	possibly damaging	Het
Nms	T	G	1: 38,983,192 (GRCm39)		probably null	Het
Or10w1	T	A	19: 13,632,376 (GRCm39)	C194*	probably null	Het
Parp14	A	G	16: 35,678,658 (GRCm39)	S437P	probably damaging	Het
Pif1	A	G	9: 65,496,377 (GRCm39)	M226V	probably benign	Het
Rnf169	T	C	7: 99,592,204 (GRCm39)	R216G	probably benign	Het
Rorb	T	C	19: 18,937,778 (GRCm39)	K307R	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpinb8	T	C	1: 107,534,727 (GRCm39)	V266A	probably damaging	Het
Strip2	A	G	6: 29,927,633 (GRCm39)	E226G	probably damaging	Het
Trim23	A	G	13: 104,324,618 (GRCm39)	D212G	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,673 (GRCm39)	V186D	possibly damaging	Het
Vwde	A	T	6: 13,186,803 (GRCm39)	C895S	probably damaging	Het
Zswim8	C	A	14: 20,767,933 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCATCTGATAGTGAGGCAGACGACC -3'
(R):5'- ATCGTCAGACCTCTCTTGGGACAC -3'

Sequencing Primer
(F):5'- GGACAGCGATCAAATTGTGC -3'
(R):5'- GGGACACTCCAGTTGTCATTTC -3'

Posted On

2013-11-18