Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02555:Arid5b'

298476

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid5b

Ensembl Gene

ENSMUSG00000019947

Gene Name

AT-rich interaction domain 5B

Synonyms

Mrf2alpha, Mrf2beta, Mrf2, 5430435G07Rik, Desrt

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02555

Quality Score

Status

Chromosome

Chromosomal Location

67928350-68114570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67937734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 221 (D221E)

Ref Sequence

ENSEMBL: ENSMUSP00000151665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020106] [ENSMUST00000218532] [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

probably benign
Transcript: ENSMUST00000218532
AA Change: D221E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000219238
AA Change: D464E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,740,828 (GRCm39)	R199C	probably damaging	Het
Adam34l	A	T	8: 44,078,305 (GRCm39)	C640S	probably damaging	Het
Adam9	T	C	8: 25,456,752 (GRCm39)	N661D	probably damaging	Het
Amy1	C	T	3: 113,358,541 (GRCm39)	E164K	probably benign	Het
B3galt1	G	T	2: 67,948,905 (GRCm39)	V207F	probably benign	Het
Begain	A	G	12: 109,000,115 (GRCm39)	S219P	probably damaging	Het
Clip1	A	G	5: 123,759,857 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,253,180 (GRCm39)	K1224R	probably benign	Het
Dnm1	A	G	2: 32,218,050 (GRCm39)	Y449H	probably damaging	Het
Epas1	A	T	17: 87,136,492 (GRCm39)	M755L	probably benign	Het
F13b	T	C	1: 139,444,924 (GRCm39)	C525R	probably damaging	Het
Fmnl2	A	G	2: 53,016,863 (GRCm39)		probably null	Het
Ighv5-15	A	G	12: 113,790,735 (GRCm39)	F3L	probably benign	Het
Inpp4a	A	G	1: 37,419,049 (GRCm39)	Q538R	possibly damaging	Het
Insrr	A	T	3: 87,721,124 (GRCm39)	M1092L	probably damaging	Het
Itgb8	C	T	12: 119,153,616 (GRCm39)	V300M	probably damaging	Het
Kcnk5	A	T	14: 20,192,053 (GRCm39)	H369Q	probably benign	Het
Ly6m	G	T	15: 74,753,457 (GRCm39)		probably benign	Het
Or1m1	T	A	9: 18,666,769 (GRCm39)	H54L	probably benign	Het
Or4a76	G	A	2: 89,460,547 (GRCm39)	R232C	probably damaging	Het
Or4k44	A	G	2: 111,368,262 (GRCm39)	V124A	probably damaging	Het
Or5m10	G	A	2: 85,717,742 (GRCm39)	M199I	probably benign	Het
Plxdc2	A	G	2: 16,734,152 (GRCm39)	I417M	probably benign	Het
Polr1a	G	A	6: 71,897,441 (GRCm39)	E186K	probably damaging	Het
Ppp3cb	A	T	14: 20,581,021 (GRCm39)	F134L	probably damaging	Het
Prox2	C	T	12: 85,142,034 (GRCm39)	W56*	probably null	Het
Scaf4	C	T	16: 90,047,193 (GRCm39)	A395T	unknown	Het
Sh3tc2	G	T	18: 62,123,308 (GRCm39)	A690S	probably damaging	Het
Slc34a1	T	C	13: 55,548,981 (GRCm39)	S144P	possibly damaging	Het
Slc6a6	C	T	6: 91,725,311 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,689,595 (GRCm39)	M557K	probably benign	Het
Vmn2r103	A	T	17: 20,031,873 (GRCm39)	D549V	probably damaging	Het
Washc2	T	A	6: 116,186,061 (GRCm39)	N90K	probably damaging	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
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
R0108:Arid5b	UTSW	10	68,114,559 (GRCm39)	utr 5 prime	probably benign
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

Posted On

2015-04-16