Mutagenetix > Incidental Mutation

Incidental Mutation 'R6905:Arid4a'

538747

Institutional Source

Beutler Lab

Gene Symbol

Arid4a

Ensembl Gene

ENSMUSG00000048118

Gene Name

AT-rich interaction domain 4A

Synonyms

A630067N03Rik, Rbbp1

MMRRC Submission

044997-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71062764-71145366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71108318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 41 (A41V)

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: A363V

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: A363V

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: A41V

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: A41V

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

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.8%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	G	T	1: 151,856,189 (GRCm39)	N59K	probably damaging	Het
Abi3bp	A	G	16: 56,394,880 (GRCm39)	D196G	probably damaging	Het
Ankrd44	A	G	1: 54,831,653 (GRCm39)	F50S	probably damaging	Het
Cdk11b	A	T	4: 155,726,065 (GRCm39)		probably benign	Het
Chrm5	C	A	2: 112,309,901 (GRCm39)	C405F	probably benign	Het
Cimip2a	A	G	2: 25,110,491 (GRCm39)	I100V	probably benign	Het
Col6a4	A	T	9: 105,937,517 (GRCm39)		probably null	Het
Copb1	A	C	7: 113,853,125 (GRCm39)	I24S	probably benign	Het
Ctsh	A	T	9: 89,944,819 (GRCm39)	K83N	probably damaging	Het
Dgkd	A	G	1: 87,863,097 (GRCm39)	E48G	probably damaging	Het
Dis3l2	A	G	1: 86,972,561 (GRCm39)	T657A	probably benign	Het
Flrt1	T	A	19: 7,072,757 (GRCm39)	K597*	probably null	Het
Ifit1bl2	T	C	19: 34,596,990 (GRCm39)	S209G	possibly damaging	Het
Ifrd2	T	C	9: 107,465,089 (GRCm39)	M1T	probably null	Het
Ighv8-12	T	C	12: 115,611,705 (GRCm39)	Y73C	probably benign	Het
Klhl21	C	A	4: 152,094,184 (GRCm39)	A262E	probably benign	Het
L3mbtl4	A	T	17: 69,084,883 (GRCm39)	Y598F	probably benign	Het
Lad1	A	G	1: 135,755,618 (GRCm39)	K298R	probably benign	Het
Map2k2	A	G	10: 80,944,701 (GRCm39)	D71G	probably damaging	Het
Megf8	T	A	7: 25,037,357 (GRCm39)	H752Q	probably benign	Het
Mms22l	A	T	4: 24,503,107 (GRCm39)	M200L	probably benign	Het
Mup5	C	A	4: 61,751,340 (GRCm39)	D103Y	possibly damaging	Het
Nes	C	T	3: 87,885,985 (GRCm39)	P1371S	probably damaging	Het
Or4c10b	A	T	2: 89,712,052 (GRCm39)	D294V	probably benign	Het
Or4f14c	A	T	2: 111,940,703 (GRCm39)	M298K	probably damaging	Het
Or52z14	A	T	7: 103,253,574 (GRCm39)	T238S	probably benign	Het
Osbpl3	T	C	6: 50,328,862 (GRCm39)	I114V	probably damaging	Het
Pank3	T	C	11: 35,667,239 (GRCm39)	Y119H	probably benign	Het
Pcdhb15	C	T	18: 37,607,748 (GRCm39)	L327F	possibly damaging	Het
Pnpla8	T	C	12: 44,330,336 (GRCm39)	V78A	probably damaging	Het
Rbm14	A	G	19: 4,853,264 (GRCm39)		probably benign	Het
Rev3l	G	A	10: 39,693,323 (GRCm39)	V468M	probably benign	Het
Ripk1	A	G	13: 34,211,973 (GRCm39)	I428V	probably benign	Het
Rps5	T	C	7: 12,659,785 (GRCm39)	V147A	probably damaging	Het
Rps6ka2	T	A	17: 7,495,340 (GRCm39)	I9N	probably damaging	Het
Samd9l	A	T	6: 3,375,387 (GRCm39)	F625I	probably damaging	Het
Sh3bp1	A	G	15: 78,789,230 (GRCm39)	D196G	probably benign	Het
Slc66a1	A	G	4: 139,033,752 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,725,757 (GRCm39)		probably null	Het
Stap1	G	A	5: 86,238,781 (GRCm39)	E150K	possibly damaging	Het
Ticrr	T	C	7: 79,315,598 (GRCm39)	I284T	probably benign	Het
Tm4sf1	T	C	3: 57,202,330 (GRCm39)		probably benign	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Trav7d-4	G	T	14: 53,007,770 (GRCm39)	A88S	possibly damaging	Het
Vwde	T	C	6: 13,205,926 (GRCm39)	E207G	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
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
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'- GCAATGTAAGTATACCGTTGCTT -3'
(R):5'- GCAGGAGGGGTACTGTTCAA -3'

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

Posted On

2018-11-06