Mutagenetix > Incidental Mutation

Incidental Mutation 'R5767:Arid4a'

446343

Institutional Source

Beutler Lab

Gene Symbol

Arid4a

Ensembl Gene

ENSMUSG00000048118

Gene Name

AT-rich interaction domain 4A

Synonyms

A630067N03Rik, Rbbp1

MMRRC Submission

043367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71062764-71145366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71106867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 313 (D313G)

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: D313G

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

SMART Domains

Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: D313G

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 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

Meta Mutation Damage Score

0.4597

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (52/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	A	T	10: 89,562,617 (GRCm39)	D87E	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 37,461,383 (GRCm39)		probably null	Het
Ano3	A	T	2: 110,491,616 (GRCm39)	Y887N	probably damaging	Het
Armc2	A	G	10: 41,887,923 (GRCm39)	V20A	probably benign	Het
Bltp3b	A	G	10: 89,623,061 (GRCm39)	D312G	possibly damaging	Het
C2	T	A	17: 35,095,432 (GRCm39)	N171I	possibly damaging	Het
Cdh1	C	A	8: 107,395,187 (GRCm39)	N865K	probably damaging	Het
Cep89	T	A	7: 35,117,070 (GRCm39)	V224E	probably damaging	Het
Cfap251	G	A	5: 123,436,584 (GRCm39)	V1038I	probably benign	Het
Dennd2d	C	T	3: 106,395,131 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,408 (GRCm39)	K1157N	probably damaging	Het
Dsg4	T	A	18: 20,595,549 (GRCm39)	L584*	probably null	Het
Exoc4	G	A	6: 33,895,367 (GRCm39)	A795T	probably benign	Het
Fbln5	A	T	12: 101,731,468 (GRCm39)	I242N	probably damaging	Het
Gls2	A	G	10: 128,041,090 (GRCm39)	H394R	probably damaging	Het
Gm27013	C	T	6: 130,652,921 (GRCm39)	C847Y	possibly damaging	Het
Ifna5	C	A	4: 88,754,036 (GRCm39)	T92K	possibly damaging	Het
Ireb2	A	G	9: 54,807,800 (GRCm39)	M674V	probably benign	Het
Itga2	C	T	13: 114,976,106 (GRCm39)	V1089M	possibly damaging	Het
Kctd16	A	T	18: 40,391,922 (GRCm39)	Y170F	probably benign	Het
Kif15	A	G	9: 122,843,039 (GRCm39)	N45D	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mink1	A	G	11: 70,496,901 (GRCm39)	K420E	possibly damaging	Het
Ms4a14	G	T	19: 11,279,391 (GRCm39)	Q1056K	probably benign	Het
Or11g1	T	C	14: 50,651,235 (GRCm39)	V78A	possibly damaging	Het
Or5k8	T	C	16: 58,644,316 (GRCm39)	Y252C	probably benign	Het
Or8k21	T	A	2: 86,144,742 (GRCm39)	E296V	probably damaging	Het
Ovch2	T	C	7: 107,381,185 (GRCm39)	E571G	probably benign	Het
Pmel	T	C	10: 128,550,250 (GRCm39)	V95A	probably damaging	Het
Ptger2	G	T	14: 45,226,599 (GRCm39)	G60C	probably benign	Het
Ranbp2	T	G	10: 58,312,647 (GRCm39)	S1122R	probably benign	Het
Rasal2	T	C	1: 157,003,732 (GRCm39)	D309G	probably damaging	Het
Rcc2	T	A	4: 140,443,230 (GRCm39)	C303S	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpini1	C	T	3: 75,520,388 (GRCm39)		probably benign	Het
Sgo2a	G	T	1: 58,058,819 (GRCm39)	E1133*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Smarcc1	G	A	9: 109,961,251 (GRCm39)		probably benign	Het
Tbcd	A	G	11: 121,483,518 (GRCm39)	E749G	probably benign	Het
Tmc3	G	A	7: 83,249,190 (GRCm39)	A260T	probably benign	Het
Tnfrsf21	A	G	17: 43,348,550 (GRCm39)	Y54C	probably damaging	Het
Urb1	T	A	16: 90,573,051 (GRCm39)	M994L	probably benign	Het
Usp14	A	T	18: 10,009,935 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,641,928 (GRCm39)	Y2233C	probably damaging	Het
Wnt2	G	T	6: 17,990,027 (GRCm39)	A290E	probably damaging	Het
Zc3h8	A	T	2: 128,772,812 (GRCm39)	C225*	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
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
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'- CTGTCCTAGCATTTGGGAGG -3'
(R):5'- GGTAAGTAATGTGATGATTGGTCAC -3'

Sequencing Primer
(F):5'- CCTAGCATTTGGGAGGCCTAG -3'
(R):5'- GTGTATATATGCCTGCACACCAG -3'

Posted On

2016-11-21