Mutagenetix > Incidental Mutations

Incidental Mutation 'R1171:Arid4a'

99453

Institutional Source

Beutler Lab

Gene Symbol

Arid4a

Ensembl Gene

ENSMUSG00000048118

Gene Name

AT rich interactive domain 4A (RBP1-like)

Synonyms

Rbbp1, A630067N03Rik

MMRRC Submission

039244-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71015990-71098592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71075338 bp

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]

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: 99.6%
3x: 98.6%
10x: 96.2%
20x: 91.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,112,377	Y48C	probably damaging	Het
Acsm5	A	T	7: 119,540,852	E492V	probably damaging	Het
Atr	T	C	9: 95,907,323	F1511L	probably damaging	Het
BC005561	T	C	5: 104,520,903	V1097A	possibly damaging	Het
Bdkrb2	G	T	12: 105,592,157	R219L	probably benign	Het
Bhmt2	A	T	13: 93,662,329	M328K	probably benign	Het
Btbd3	A	G	2: 138,283,961	D286G	probably benign	Het
Bub1b	T	G	2: 118,606,686	L122V	probably benign	Het
Caml	T	C	13: 55,625,007	S155P	probably damaging	Het
Cfap43	T	C	19: 47,835,711	K74E	probably benign	Het
Chst4	A	G	8: 110,030,623	S120P	probably damaging	Het
Col11a1	A	G	3: 114,066,564	D213G	unknown	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Cxcl10	CAC	CACTAAC	5: 92,348,086		probably null	Het
Cyp26b1	A	T	6: 84,576,671	I167N	possibly damaging	Het
Dchs1	A	G	7: 105,757,714	S2195P	probably benign	Het
Ddx25	T	A	9: 35,546,846	K326*	probably null	Het
Dip2c	A	T	13: 9,493,126	Y36F	possibly damaging	Het
Dock2	T	C	11: 34,695,241	D538G	probably damaging	Het
E4f1	C	T	17: 24,451,549	D55N	probably damaging	Het
Emp1	G	T	6: 135,381,079	W141L	probably damaging	Het
Faim2	T	A	15: 99,500,254	H271L	probably benign	Het
Fbxw9	T	C	8: 85,066,078	M352T	possibly damaging	Het
Fcrls	A	T	3: 87,256,860	F321I	probably benign	Het
Frzb	C	T	2: 80,438,490		probably null	Het
Gal3st1	G	T	11: 3,998,931	K379N	probably damaging	Het
Gm5519	G	A	19: 33,822,972	C22Y	possibly damaging	Het
Gpn3	T	C	5: 122,378,520	F71L	probably benign	Het
H2-M9	A	G	17: 36,641,653	V167A	probably benign	Het
Hars	A	G	18: 36,771,414	F182L	possibly damaging	Het
Hid1	T	C	11: 115,352,717	T502A	probably benign	Het
Hipk3	G	T	2: 104,471,676	T57K	probably benign	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itpk1	G	A	12: 102,606,119	L112F	probably damaging	Het
Klk9	T	A	7: 43,794,393	D110E	possibly damaging	Het
Lemd3	A	T	10: 120,949,341	M535K	possibly damaging	Het
Lipg	A	T	18: 74,945,823	S453T	possibly damaging	Het
Lrrc75a	A	T	11: 62,609,243	W150R	probably damaging	Het
Lyg1	T	C	1: 37,947,224	E143G	probably damaging	Het
Map3k1	A	G	13: 111,755,643	V1026A	probably benign	Het
Mgat3	T	A	15: 80,211,637	F222I	probably benign	Het
Mindy4	A	T	6: 55,255,616	N348I	possibly damaging	Het
Myo1b	A	C	1: 51,778,525	F532C	probably damaging	Het
Naif1	T	A	2: 32,452,546	N36K	probably damaging	Het
Nkpd1	C	A	7: 19,524,087	A597E	possibly damaging	Het
Npr2	A	G	4: 43,647,260	D772G	possibly damaging	Het
Olfr2	T	C	7: 107,001,584	N92S	probably benign	Het
Olfr658	T	G	7: 104,644,997	D123A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Pdgfra	A	T	5: 75,173,447	I394F	probably damaging	Het
Pdzrn3	G	A	6: 101,150,877	R943C	probably damaging	Het
Pml	A	G	9: 58,234,538	V337A	probably damaging	Het
Pnpla2	T	A	7: 141,458,881	M321K	probably benign	Het
Poln	A	T	5: 34,103,940	N546K	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prss28	T	A	17: 25,310,055	F123L	possibly damaging	Het
Psg18	A	G	7: 18,346,079	V399A	probably benign	Het
Rab5a	T	C	17: 53,506,415	C212R	probably damaging	Het
Ranbp6	A	T	19: 29,812,279	D224E	probably benign	Het
Recql4	T	C	15: 76,704,039	I1104M	possibly damaging	Het
Rev1	A	T	1: 38,088,500	N226K	possibly damaging	Het
Rhbdl3	T	A	11: 80,353,592	V375E	possibly damaging	Het
Senp6	T	A	9: 80,116,725	N423K	possibly damaging	Het
Sertad2	C	G	11: 20,648,091	L96V	probably benign	Het
Slc33a1	T	A	3: 63,953,894	T296S	probably benign	Het
Smurf2	G	A	11: 106,852,618	P188S	possibly damaging	Het
Spta1	T	A	1: 174,211,614	Y1174*	probably null	Het
Stra6l	A	T	4: 45,864,982	T103S	probably benign	Het
Swt1	C	T	1: 151,405,521	A352T	probably damaging	Het
Tdgf1	C	A	9: 110,943,167	V54L	probably benign	Het
Tigd2	T	A	6: 59,211,376	N409K	possibly damaging	Het
Tlr6	G	T	5: 64,955,250	H105N	probably benign	Het
Tmprss9	A	C	10: 80,879,858	T15P	possibly damaging	Het
Tnik	C	T	3: 28,532,940	T120M	probably damaging	Het
Tnr	T	A	1: 159,858,210	I337N	probably damaging	Het
Top3a	A	G	11: 60,750,593	Y422H	probably benign	Het
Trim67	A	G	8: 124,829,081	N768S	probably damaging	Het
Ttn	A	G	2: 76,705,966	V35016A	probably benign	Het
Utrn	A	C	10: 12,481,308	S312R	probably damaging	Het
Vdac2	A	G	14: 21,837,811	Y62C	probably damaging	Het
Vwa5b2	A	G	16: 20,604,984	T1216A	probably benign	Het
Wfdc16	T	C	2: 164,638,483	K31E	possibly damaging	Het
Wtip	C	T	7: 34,125,496	C221Y	probably damaging	Het
Xrn1	A	G	9: 95,991,011	D640G	possibly damaging	Het
Zdhhc5	T	C	2: 84,692,341	R293G	probably benign	Het
Zfp536	T	C	7: 37,569,634	D119G	probably damaging	Het
Zfp81	T	C	17: 33,335,280	T187A	probably benign	Het
Zfp810	C	T	9: 22,278,826	G262D	possibly damaging	Het
Zfp963	A	C	8: 69,743,019	I203M	possibly damaging	Het
Zfpm2	T	C	15: 41,101,679	M520T	probably damaging	Het
Zswim8	G	A	14: 20,713,113	R360Q	possibly damaging	Het
Zwilch	T	A	9: 64,158,717	H254L	possibly damaging	Het

Other mutations in Arid4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Arid4a	APN	12	71072593	missense	probably damaging	1.00
IGL00546:Arid4a	APN	12	71075671	missense	probably benign
IGL00553:Arid4a	APN	12	71075977	missense	probably benign	0.04
IGL00708:Arid4a	APN	12	71072728	missense	probably benign	0.02
IGL00847:Arid4a	APN	12	71075718	missense	probably damaging	1.00
IGL01112:Arid4a	APN	12	71072733	critical splice donor site	probably null
IGL01456:Arid4a	APN	12	71067262	missense	probably benign	0.00
IGL01505:Arid4a	APN	12	71037115	missense	probably damaging	1.00
IGL01555:Arid4a	APN	12	71061527	splice site	probably benign
IGL01631:Arid4a	APN	12	71022262	splice site	probably benign
IGL02958:Arid4a	APN	12	71097563	missense	probably benign	0.01
IGL03087:Arid4a	APN	12	71075245	missense	possibly damaging	0.94
IGL03111:Arid4a	APN	12	71039966	missense	probably damaging	1.00
IGL03234:Arid4a	APN	12	71045060	missense	probably benign	0.34
After_8	UTSW	12	71023498	critical splice acceptor site	probably null
ariano	UTSW	12	71069860	nonsense	probably null
guava	UTSW	12	71072632	missense	probably damaging	0.99
limoncello	UTSW	12	71067341	splice site	probably null
Under_8	UTSW	12	71063206	missense	probably benign	0.10
R0047:Arid4a	UTSW	12	71075419	missense	probably damaging	1.00
R0047:Arid4a	UTSW	12	71075419	missense	probably damaging	1.00
R0270:Arid4a	UTSW	12	71072632	missense	probably damaging	0.99
R0310:Arid4a	UTSW	12	71075830	missense	probably benign	0.05
R0504:Arid4a	UTSW	12	71047214	missense	probably damaging	1.00
R1061:Arid4a	UTSW	12	71074955	missense	probably damaging	1.00
R1087:Arid4a	UTSW	12	71075338	missense	probably benign	0.01
R1169:Arid4a	UTSW	12	71075338	missense	probably benign	0.01
R1531:Arid4a	UTSW	12	71076005	missense	probably benign	0.01
R1674:Arid4a	UTSW	12	71075338	missense	probably benign	0.01
R1676:Arid4a	UTSW	12	71075338	missense	probably benign	0.01
R1768:Arid4a	UTSW	12	71075338	missense	probably benign	0.01
R1833:Arid4a	UTSW	12	71075466	missense	possibly damaging	0.50
R1878:Arid4a	UTSW	12	71087589	missense	probably damaging	1.00
R2290:Arid4a	UTSW	12	71061541	missense	probably damaging	1.00
R2292:Arid4a	UTSW	12	71061541	missense	probably damaging	1.00
R2871:Arid4a	UTSW	12	71022260	critical splice donor site	probably null
R2871:Arid4a	UTSW	12	71022260	critical splice donor site	probably null
R3411:Arid4a	UTSW	12	71061525	splice site	probably benign
R3768:Arid4a	UTSW	12	71067119	missense	probably damaging	1.00
R3838:Arid4a	UTSW	12	71075785	missense	possibly damaging	0.94
R4320:Arid4a	UTSW	12	71069995	missense	possibly damaging	0.69
R4589:Arid4a	UTSW	12	71069964	missense	probably damaging	1.00
R4829:Arid4a	UTSW	12	71023498	critical splice acceptor site	probably null
R4862:Arid4a	UTSW	12	71075947	missense	probably damaging	0.96
R4952:Arid4a	UTSW	12	71023525	missense	possibly damaging	0.64
R5072:Arid4a	UTSW	12	71045079	missense	probably benign	0.08
R5423:Arid4a	UTSW	12	71069860	nonsense	probably null
R5767:Arid4a	UTSW	12	71060093	missense	probably damaging	1.00
R5911:Arid4a	UTSW	12	71069973	missense	probably damaging	1.00
R5952:Arid4a	UTSW	12	71063206	missense	probably benign	0.10
R6088:Arid4a	UTSW	12	71022236	missense	probably damaging	0.99
R6235:Arid4a	UTSW	12	71069772	intron	probably null
R6277:Arid4a	UTSW	12	71039891	missense	possibly damaging	0.49
R6455:Arid4a	UTSW	12	71075088	missense	probably benign	0.04
R6523:Arid4a	UTSW	12	71067341	splice site	probably null
R6701:Arid4a	UTSW	12	71087512	missense	probably damaging	1.00
R6812:Arid4a	UTSW	12	71047263	missense	possibly damaging	0.92
R6815:Arid4a	UTSW	12	71017082	splice site	probably null
R6837:Arid4a	UTSW	12	71075515	missense	probably benign
R6858:Arid4a	UTSW	12	71023509	missense	probably benign	0.01
R6895:Arid4a	UTSW	12	71063302	missense	probably benign	0.18
R6901:Arid4a	UTSW	12	71067137	missense	probably damaging	0.99
R6905:Arid4a	UTSW	12	71061544	missense	probably benign	0.43
R7387:Arid4a	UTSW	12	71087496	missense	probably damaging	1.00
R7570:Arid4a	UTSW	12	71063142	nonsense	probably null
R7772:Arid4a	UTSW	12	71061589	missense	possibly damaging	0.65
Z1176:Arid4a	UTSW	12	71039920	missense	possibly damaging	0.89
Z1177:Arid4a	UTSW	12	71075637	missense	possibly damaging	0.82

Predicted Primers

Posted On

2014-01-15