Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Arid5b'

380193

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

042471-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67928350-68114570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68078925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 137 (N137K)

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: N137K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020106
Gene: ENSMUSG00000019947
AA Change: N137K

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: N137K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akap9	G	A	5: 4,084,916 (GRCm39)		probably benign	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dnd1	C	T	18: 36,899,016 (GRCm39)		probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Grm6	C	T	11: 50,755,439 (GRCm39)	T857M	probably benign	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Ilkap	A	G	1: 91,315,105 (GRCm39)		probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl22	G	A	16: 17,594,880 (GRCm39)		silent	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Krr1	C	T	10: 111,821,596 (GRCm39)		probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,135,321 (GRCm39)		probably benign	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,434,879 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Snapc3	C	T	4: 83,383,134 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tango2	A	G	16: 18,128,765 (GRCm39)		silent	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ulk4	G	A	9: 121,079,968 (GRCm39)	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,007,893 (GRCm39)		silent	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
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
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

PCR Primer
(F):5'- TTGATAGTAAGGGGTTCCAGGATAATG -3'
(R):5'- GCTTGGCTAAGAATGGATCACTTTTC -3'

Sequencing Primer
(F):5'- TGGACAGAGTGGATGTAGCTCAC -3'
(R):5'- TTTTCCAAACCCAGAATAACATTTTC -3'

Posted On

2016-04-15