Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03119:Arid5b'

409920

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 #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

67928350-68114570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68079057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 93 (D93E)

Ref Sequence

ENSEMBL: ENSMUSP00000151227 (fasta)

Gene Model

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

AlphaFold

Q8BM75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020106
AA Change: D93E

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020106
Gene: ENSMUSG00000019947
AA Change: D93E

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 damaging
Transcript: ENSMUST00000219238
AA Change: D93E

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

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
Abcb1a	A	G	5: 8,764,887 (GRCm39)	T626A	probably benign	Het
Adcy1	C	T	11: 7,059,051 (GRCm39)	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,530,492 (GRCm39)	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,581,819 (GRCm39)	C4742G	probably benign	Het
Atp6v1h	A	G	1: 5,165,892 (GRCm39)	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734 (GRCm38)	L807F	probably damaging	Het
Cep104	A	C	4: 154,066,181 (GRCm39)	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,167,545 (GRCm39)	E708G	probably damaging	Het
Dst	A	G	1: 34,200,143 (GRCm39)	Y107C	probably damaging	Het
E2f3	A	G	13: 30,169,348 (GRCm39)	S102P	probably benign	Het
Eif3e	A	C	15: 43,129,000 (GRCm39)	S207A	probably benign	Het
Etl4	A	G	2: 20,718,198 (GRCm39)	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,721,065 (GRCm39)	V121A	probably benign	Het
Gstk1	T	C	6: 42,226,833 (GRCm39)	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,262,333 (GRCm39)	F244L	probably null	Het
Ints7	T	C	1: 191,342,477 (GRCm39)	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,508 (GRCm39)	E71*	probably null	Het
Ltbp3	A	T	19: 5,807,471 (GRCm39)	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,081,297 (GRCm39)	T961A	probably benign	Het
Naa25	T	A	5: 121,573,041 (GRCm39)	V720E	probably null	Het
Or52ab4	A	G	7: 102,987,929 (GRCm39)	I223V	probably damaging	Het
Or5b121	T	C	19: 13,507,799 (GRCm39)	I298T	probably benign	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Peli1	T	C	11: 21,090,560 (GRCm39)		probably benign	Het
Ptbp1	T	C	10: 79,695,458 (GRCm39)	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,287,825 (GRCm39)	Y31C	probably damaging	Het
Smg1	G	A	7: 117,794,336 (GRCm39)		probably benign	Het
Stat2	A	G	10: 128,119,386 (GRCm39)	M457V	probably benign	Het
Trpm6	G	T	19: 18,815,381 (GRCm39)	E1156*	probably null	Het
Usp53	T	A	3: 122,755,064 (GRCm39)	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,333,852 (GRCm39)	S193P	probably benign	Het
Xrn2	A	G	2: 146,884,792 (GRCm39)	I626V	probably damaging	Het
Zfp574	G	A	7: 24,779,898 (GRCm39)	A307T	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
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

2016-08-02