Mutagenetix > Incidental Mutation

Incidental Mutation 'R2292:Arid4a'

245049

Institutional Source

Beutler Lab

Gene Symbol

Arid4a

Ensembl Gene

ENSMUSG00000048118

Gene Name

AT-rich interaction domain 4A

Synonyms

A630067N03Rik, Rbbp1

MMRRC Submission

040291-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2292 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71062764-71145366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71108315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 40 (G40V)

Ref Sequence

ENSEMBL: ENSMUSP00000121319 (fasta)

Gene Model

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

AlphaFold

F8VPQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046305
AA Change: G362V

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: G362V

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

noncoding transcript
Transcript: ENSMUST00000134718

Predicted Effect

probably damaging
Transcript: ENSMUST00000135709
AA Change: G40V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: G40V

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

0.1381

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (44/44)

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
4932414N04Rik	T	C	2: 68,562,483 (GRCm39)	I370T	probably benign	Het
A2m	A	G	6: 121,650,518 (GRCm39)	T1209A	possibly damaging	Het
Als2	T	C	1: 59,226,544 (GRCm39)	Q920R	probably damaging	Het
Arhgap20	T	A	9: 51,760,743 (GRCm39)	Y829N	possibly damaging	Het
Arhgap35	A	T	7: 16,297,476 (GRCm39)	F530I	probably damaging	Het
Ascc2	T	C	11: 4,629,352 (GRCm39)		probably benign	Het
Cacna1b	C	T	2: 24,496,632 (GRCm39)	V2312I	probably benign	Het
Dctn6	T	C	8: 34,559,679 (GRCm39)	T159A	probably benign	Het
Ddx55	G	T	5: 124,706,140 (GRCm39)	A522S	probably benign	Het
Dnah6	G	A	6: 72,998,092 (GRCm39)	T4110I	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dym	A	G	18: 75,332,283 (GRCm39)	T504A	possibly damaging	Het
E130308A19Rik	T	C	4: 59,690,579 (GRCm39)	Y138H	probably damaging	Het
Fgd4	A	T	16: 16,253,864 (GRCm39)	C568S	possibly damaging	Het
Fkbp4	A	C	6: 128,413,625 (GRCm39)	V6G	probably damaging	Het
Flg2	A	T	3: 93,127,984 (GRCm39)	S2299C	unknown	Het
Gdf2	A	T	14: 33,667,145 (GRCm39)	N289I	possibly damaging	Het
Gpr182	A	G	10: 127,586,051 (GRCm39)	I300T	possibly damaging	Het
Iqcg	A	G	16: 32,870,253 (GRCm39)	V80A	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,915,080 (GRCm39)	F3258C	probably damaging	Het
Map3k12	T	C	15: 102,408,574 (GRCm39)	E870G	probably damaging	Het
Mphosph10	G	A	7: 64,035,519 (GRCm39)	P384L	probably damaging	Het
Ncoa4	T	G	14: 31,895,413 (GRCm39)	L179R	probably damaging	Het
Nlrp1c-ps	A	G	11: 71,137,188 (GRCm39)		noncoding transcript	Het
Nwd2	A	T	5: 63,962,917 (GRCm39)	M834L	probably benign	Het
Or10a49	A	T	7: 108,468,223 (GRCm39)	M46K	probably benign	Het
Or2w6	A	G	13: 21,843,001 (GRCm39)	M164T	probably damaging	Het
Pccb	T	C	9: 100,876,685 (GRCm39)	E266G	probably benign	Het
Pcdhb2	T	A	18: 37,430,297 (GRCm39)		probably null	Het
Pramel25	T	C	4: 143,520,446 (GRCm39)	I66T	probably benign	Het
Prdm13	A	C	4: 21,683,914 (GRCm39)	I119S	unknown	Het
Tchh	A	G	3: 93,349,689 (GRCm39)	Y18C	probably damaging	Het
Tmem192	T	C	8: 65,411,998 (GRCm39)	V59A	probably damaging	Het
Trak2	A	T	1: 58,974,916 (GRCm39)	F92Y	probably damaging	Het
Trappc11	C	T	8: 47,958,771 (GRCm39)	G40D	probably damaging	Het
Ttc23	A	T	7: 67,319,535 (GRCm39)	I132F	probably benign	Het
Ttc9b	A	G	7: 27,355,405 (GRCm39)	D225G	probably benign	Het
Ubr3	G	T	2: 69,727,604 (GRCm39)		probably benign	Het
Vmn2r75	A	C	7: 85,798,144 (GRCm39)	C556W	probably damaging	Het
Zbtb41	T	C	1: 139,368,097 (GRCm39)	V595A	probably damaging	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
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
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'- ATGTGGCAATGTAAGTATACCGTTG -3'
(R):5'- GCAGGAGGGGTACTGTTCAAG -3'

Sequencing Primer
(F):5'- GCAATGTAAGTATACCGTTGCTTTAG -3'
(R):5'- CTGCAATTAAAGGCCTGTGC -3'

Posted On

2014-10-30