Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Arid5b'

262061

Institutional Source

Beutler Lab

Gene Symbol

Arid5b

Ensembl Gene

ENSMUSG00000019947

Gene Name

AT-rich interaction domain 5B

Synonyms

Mrf2alpha, Mrf2beta, Mrf2, 5430435G07Rik, Desrt

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R0108 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

67928350-68114570 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 68114559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020106] [ENSMUST00000219238]

AlphaFold

Q8BM75

Predicted Effect

probably benign
Transcript: ENSMUST00000020106

SMART Domains

Protein: ENSMUSP00000020106
Gene: ENSMUSG00000019947

Domain	Start	End	E-Value	Type
ARID	316	407	8.29e-35	SMART
BRIGHT	320	412	4.18e-38	SMART
low complexity region	425	438	N/A	INTRINSIC
low complexity region	451	462	N/A	INTRINSIC
low complexity region	538	549	N/A	INTRINSIC
low complexity region	695	718	N/A	INTRINSIC
low complexity region	730	741	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218425

Predicted Effect

probably benign
Transcript: ENSMUST00000219238

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene experience a high level of mortality perinatally or earlier. Growth rates are low and mice remain small throughout live. There are abnormalities in various organ systems as well as the reproductive system. Fertility is reduced. [provided by MGI curators]

Allele List at MGI

All alleles(212) : Targeted, knock-out(2) Gene trapped(210)

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Impg1	T	C	9: 80,230,130 (GRCm39)	N655D	possibly damaging	Het
Jph4	T	C	14: 55,346,757 (GRCm39)	R597G	probably benign	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nod1	A	G	6: 54,920,734 (GRCm39)	F528S	probably benign	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tas2r120	T	A	6: 132,634,809 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het

Other mutations in Arid5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Arid5b	APN	10	67,964,805 (GRCm39)	missense	probably damaging	0.96
IGL01731:Arid5b	APN	10	67,933,439 (GRCm39)	missense	probably damaging	1.00
IGL02069:Arid5b	APN	10	67,933,229 (GRCm39)	missense	probably damaging	1.00
IGL02161:Arid5b	APN	10	67,932,498 (GRCm39)	missense	probably benign	0.00
IGL02555:Arid5b	APN	10	67,937,734 (GRCm39)	missense	probably benign	0.01
IGL02873:Arid5b	APN	10	67,937,780 (GRCm39)	missense	probably benign	0.06
IGL03119:Arid5b	APN	10	68,079,057 (GRCm39)	missense	probably damaging	1.00
IGL03271:Arid5b	APN	10	67,933,287 (GRCm39)	missense	possibly damaging	0.73
gobi	UTSW	10	67,954,175 (GRCm39)	missense	possibly damaging	0.92
3-1:Arid5b	UTSW	10	67,934,419 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Arid5b	UTSW	10	67,933,841 (GRCm39)	missense	probably damaging	0.99
R0525:Arid5b	UTSW	10	67,933,676 (GRCm39)	missense	possibly damaging	0.90
R0533:Arid5b	UTSW	10	68,021,863 (GRCm39)	missense	probably damaging	1.00
R0646:Arid5b	UTSW	10	67,932,807 (GRCm39)	missense	probably damaging	1.00
R1066:Arid5b	UTSW	10	67,934,186 (GRCm39)	missense	probably benign	0.04
R1487:Arid5b	UTSW	10	67,933,044 (GRCm39)	nonsense	probably null
R1638:Arid5b	UTSW	10	68,113,777 (GRCm39)	missense	possibly damaging	0.48
R1789:Arid5b	UTSW	10	68,021,897 (GRCm39)	missense	probably damaging	0.99
R2031:Arid5b	UTSW	10	68,114,518 (GRCm39)	critical splice donor site	probably null
R2337:Arid5b	UTSW	10	67,933,607 (GRCm39)	missense	possibly damaging	0.63
R2996:Arid5b	UTSW	10	67,934,292 (GRCm39)	missense	probably benign	0.01
R2997:Arid5b	UTSW	10	67,934,292 (GRCm39)	missense	probably benign	0.01
R3547:Arid5b	UTSW	10	67,934,292 (GRCm39)	missense	probably benign	0.01
R4411:Arid5b	UTSW	10	67,932,519 (GRCm39)	missense	probably damaging	1.00
R4860:Arid5b	UTSW	10	68,078,925 (GRCm39)	missense	probably damaging	0.97
R4860:Arid5b	UTSW	10	68,078,925 (GRCm39)	missense	probably damaging	0.97
R5219:Arid5b	UTSW	10	68,113,940 (GRCm39)	missense	probably benign	0.08
R5341:Arid5b	UTSW	10	68,113,957 (GRCm39)	missense	possibly damaging	0.87
R5434:Arid5b	UTSW	10	67,932,719 (GRCm39)	missense	possibly damaging	0.67
R5757:Arid5b	UTSW	10	67,937,909 (GRCm39)	missense	probably damaging	1.00
R6114:Arid5b	UTSW	10	67,933,574 (GRCm39)	missense	possibly damaging	0.89
R6313:Arid5b	UTSW	10	67,933,412 (GRCm39)	missense	possibly damaging	0.95
R6338:Arid5b	UTSW	10	67,934,391 (GRCm39)	nonsense	probably null
R6525:Arid5b	UTSW	10	67,933,496 (GRCm39)	missense	possibly damaging	0.47
R6915:Arid5b	UTSW	10	68,022,042 (GRCm39)	nonsense	probably null
R7013:Arid5b	UTSW	10	67,933,649 (GRCm39)	missense	probably damaging	1.00
R7099:Arid5b	UTSW	10	67,934,009 (GRCm39)	missense	probably damaging	1.00
R7260:Arid5b	UTSW	10	67,933,637 (GRCm39)	missense	probably damaging	1.00
R7324:Arid5b	UTSW	10	67,964,752 (GRCm39)	missense	probably benign	0.44
R7334:Arid5b	UTSW	10	68,079,007 (GRCm39)	missense	possibly damaging	0.61
R7432:Arid5b	UTSW	10	67,954,096 (GRCm39)	missense	probably damaging	1.00
R7453:Arid5b	UTSW	10	68,078,994 (GRCm39)	missense	probably benign	0.01
R7649:Arid5b	UTSW	10	67,954,175 (GRCm39)	missense	possibly damaging	0.92
R7659:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7661:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7662:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7663:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7665:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7666:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7759:Arid5b	UTSW	10	67,933,632 (GRCm39)	missense	probably damaging	1.00
R7779:Arid5b	UTSW	10	67,932,606 (GRCm39)	missense	probably damaging	1.00
R7788:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7789:Arid5b	UTSW	10	67,934,417 (GRCm39)	missense	probably benign
R7875:Arid5b	UTSW	10	67,964,771 (GRCm39)	missense	probably benign	0.02
R8079:Arid5b	UTSW	10	67,934,186 (GRCm39)	missense	possibly damaging	0.88
R8096:Arid5b	UTSW	10	68,021,982 (GRCm39)	missense	probably benign	0.00
R8228:Arid5b	UTSW	10	68,114,536 (GRCm39)	missense	possibly damaging	0.95
R8377:Arid5b	UTSW	10	67,933,217 (GRCm39)	missense	probably damaging	0.96
R8757:Arid5b	UTSW	10	67,933,640 (GRCm39)	missense	probably damaging	1.00
R8910:Arid5b	UTSW	10	67,934,108 (GRCm39)	missense
R8954:Arid5b	UTSW	10	67,937,810 (GRCm39)	missense	possibly damaging	0.88
R9234:Arid5b	UTSW	10	67,964,628 (GRCm39)	missense	possibly damaging	0.82
R9272:Arid5b	UTSW	10	67,937,882 (GRCm39)	missense	probably damaging	0.99
R9430:Arid5b	UTSW	10	68,022,087 (GRCm39)	critical splice acceptor site	probably null
X0066:Arid5b	UTSW	10	67,954,132 (GRCm39)	missense	probably damaging	1.00
Z1177:Arid5b	UTSW	10	67,933,058 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2015-02-04