Mutagenetix > Incidental Mutations

Incidental Mutation 'R2424:Arid5a'

249462

Institutional Source

Beutler Lab

Gene Symbol

Arid5a

Ensembl Gene

ENSMUSG00000037447

Gene Name

AT rich interactive domain 5A (MRF1-like)

Synonyms

D430024K22Rik, Mrf1

MMRRC Submission

040386-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R2424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36307733-36324029 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36318501 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 136 (Y136H)

Ref Sequence

ENSEMBL: ENSMUSP00000115490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097778] [ENSMUST00000115029] [ENSMUST00000115031] [ENSMUST00000115032] [ENSMUST00000116629] [ENSMUST00000126413] [ENSMUST00000137906] [ENSMUST00000142319]

Predicted Effect

probably damaging
Transcript: ENSMUST00000097778
AA Change: Y166H

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

SMART Domains

Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: Y166H

Domain	Start	End	E-Value	Type
ARID	76	167	4.69e-34	SMART
BRIGHT	80	172	8.63e-31	SMART
low complexity region	453	467	N/A	INTRINSIC
low complexity region	512	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115029

SMART Domains

Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447

Domain	Start	End	E-Value	Type
Blast:ARID	1	85	6e-24	BLAST
low complexity region	265	279	N/A	INTRINSIC
low complexity region	324	334	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115031
AA Change: Y231H

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

SMART Domains

Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: Y231H

Domain	Start	End	E-Value	Type
ARID	46	232	1.82e-31	SMART
Blast:ARID	281	338	6e-11	BLAST
low complexity region	518	532	N/A	INTRINSIC
low complexity region	577	587	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115032
AA Change: Y137H

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

SMART Domains

Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: Y137H

Domain	Start	End	E-Value	Type
ARID	47	138	4.69e-34	SMART
BRIGHT	51	143	8.63e-31	SMART
low complexity region	424	438	N/A	INTRINSIC
low complexity region	483	493	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116629

SMART Domains

Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447

Domain	Start	End	E-Value	Type
Blast:ARID	22	55	8e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124280

Predicted Effect

probably damaging
Transcript: ENSMUST00000126413
AA Change: Y136H

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

SMART Domains

Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: Y136H

Domain	Start	End	E-Value	Type
ARID	46	137	4.69e-34	SMART
BRIGHT	50	142	8.63e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000137906
AA Change: Y79H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: Y79H

Domain	Start	End	E-Value	Type
SCOP:d1ig6a_	41	98	7e-19	SMART
PDB:2OEH\|A	42	98	2e-26	PDB
Blast:ARID	42	186	4e-50	BLAST
low complexity region	366	380	N/A	INTRINSIC
low complexity region	425	435	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150747

Predicted Effect

probably benign
Transcript: ENSMUST00000142319

SMART Domains

Protein: ENSMUSP00000119953
Gene: ENSMUSG00000037447

Domain	Start	End	E-Value	Type
SCOP:d1kkxa_	49	81	3e-9	SMART
Blast:ARID	56	121	2e-41	BLAST
PDB:2OEH\|A	56	121	2e-9	PDB

Meta Mutation Damage Score

0.9436

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced serum interleukin-6 and tumor necrosis factor levels following LPS treatment, and decreased susceptibility to experimental autoimmune encephalomyelitis along with decreased T-helper 17 cell number and increased IFN-gamma producing T cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	C	17: 33,065,756	T691A	probably benign	Het
Aacs	A	G	5: 125,513,095		probably null	Het
Acot3	G	T	12: 84,053,864	R138L	probably damaging	Het
Ago3	A	G	4: 126,404,247	V160A	probably damaging	Het
Akap9	A	C	5: 4,065,279	E166D	probably damaging	Het
Ascc3	T	C	10: 50,618,201	V244A	probably benign	Het
Atp10a	A	T	7: 58,794,555	H560L	probably benign	Het
Btbd6	A	G	12: 112,978,360	T482A	probably benign	Het
Cacna1d	A	T	14: 30,049,023	Y1828N	probably damaging	Het
Capzb	A	G	4: 139,194,130	M1V	probably null	Het
Cdh9	T	G	15: 16,850,354	F524L	probably damaging	Het
Ctnna1	T	C	18: 35,253,707	S846P	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dock7	T	A	4: 98,945,307	R1886*	probably null	Het
Dpp3	A	T	19: 4,907,707	L711*	probably null	Het
Dst	T	A	1: 34,167,060	I566N	probably damaging	Het
Eif2b3	T	A	4: 117,070,848	S421R	probably benign	Het
Epg5	T	C	18: 77,968,613	V825A	probably benign	Het
Eya1	T	A	1: 14,270,848		probably benign	Het
Fam187a	T	C	11: 102,885,954	Y195H	probably damaging	Het
Fbn2	C	T	18: 58,203,787	C132Y	probably damaging	Het
Fbxw21	A	T	9: 109,157,519	Y97*	probably null	Het
Grin1	A	T	2: 25,318,652	C79S	probably null	Het
Haao	T	A	17: 83,835,562	Y118F	probably damaging	Het
Il11ra1	T	A	4: 41,768,222	S378T	probably damaging	Het
Kcnj5	A	T	9: 32,322,820	N66K	probably damaging	Het
Kif21a	T	A	15: 90,971,196	N668I	probably damaging	Het
Kprp	A	T	3: 92,825,605	L46Q	probably damaging	Het
Lama1	C	T	17: 67,798,665	T2056I	probably benign	Het
Madd	G	C	2: 91,166,622	D824E	probably damaging	Het
Mapk9	A	G	11: 49,863,672	N84S	probably damaging	Het
Mrpl39	A	G	16: 84,730,860	V160A	probably benign	Het
Mrpl9	T	C	3: 94,443,806	S98P	probably benign	Het
Mybpc3	A	T	2: 91,135,793	M1233L	probably benign	Het
Neb	A	G	2: 52,209,659		probably benign	Het
Ngly1	A	G	14: 16,290,721		probably null	Het
Nt5c1b	A	T	12: 10,370,072	T4S	probably damaging	Het
Obscn	T	C	11: 58,994,451		probably benign	Het
Olfr725	T	C	14: 50,034,824	Y193C	probably damaging	Het
Olfr904	T	C	9: 38,464,832	S264P	probably damaging	Het
Olfr92	T	C	17: 37,111,516	I155M	probably benign	Het
Olfr968	A	G	9: 39,772,297	F168L	probably benign	Het
Otog	A	T	7: 46,298,169	K64*	probably null	Het
Papola	A	G	12: 105,827,052	T544A	probably benign	Het
Phc1	A	G	6: 122,320,043	V790A	probably damaging	Het
Phf3	G	T	1: 30,806,349	R1252S	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Rgs17	T	A	10: 5,833,111	I159F	probably damaging	Het
Rgs17	T	A	10: 5,842,560	E62V	probably benign	Het
Rnase1	A	G	14: 51,145,547	Y117H	possibly damaging	Het
Rnf214	T	C	9: 45,899,798	D189G	probably damaging	Het
Sema4b	A	G	7: 80,219,275	N365S	probably damaging	Het
Setd2	A	G	9: 110,617,522	H2480R	probably benign	Het
Slc27a6	G	T	18: 58,605,117	C415F	probably benign	Het
Stim1	A	G	7: 102,408,405	I142V	probably benign	Het
Supt5	T	C	7: 28,315,165	I1070V	possibly damaging	Het
Tbp	T	C	17: 15,513,533	F174L	possibly damaging	Het
Tex26	A	G	5: 149,470,448		probably benign	Het
Tmem132d	A	G	5: 127,864,599	V479A	probably benign	Het
Ttn	T	C	2: 76,881,145		probably benign	Het
Urb2	T	A	8: 124,030,426	N957K	probably benign	Het
Usp24	T	C	4: 106,399,113		probably null	Het
Vmn2r114	T	C	17: 23,296,868	T550A	possibly damaging	Het
Vmn2r72	A	G	7: 85,750,953	V296A	probably damaging	Het
Vmn2r91	C	A	17: 18,136,169	Y699*	probably null	Het

Other mutations in Arid5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Arid5a	APN	1	36319433	missense	possibly damaging	0.54
IGL02000:Arid5a	APN	1	36319497	missense	probably damaging	1.00
IGL02322:Arid5a	APN	1	36319416	missense	probably benign	0.09
PIT4504001:Arid5a	UTSW	1	36317625	missense	probably damaging	1.00
R0063:Arid5a	UTSW	1	36318564	missense	probably damaging	1.00
R0063:Arid5a	UTSW	1	36318564	missense	probably damaging	1.00
R1556:Arid5a	UTSW	1	36320164	nonsense	probably null
R1703:Arid5a	UTSW	1	36319575	splice site	probably null
R4583:Arid5a	UTSW	1	36317664	critical splice donor site	probably null
R5725:Arid5a	UTSW	1	36319130	nonsense	probably null
R6056:Arid5a	UTSW	1	36319392	missense	probably benign	0.01
R7023:Arid5a	UTSW	1	36317550	unclassified	probably benign
R7996:Arid5a	UTSW	1	36317445	missense	unknown
X0020:Arid5a	UTSW	1	36319575	splice site	probably null
Z1176:Arid5a	UTSW	1	36319355	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACGAGCTGTGTCCTTGTCAG -3'
(R):5'- AAGCTCCTGGTGTTCCAAG -3'

Sequencing Primer
(F):5'- TCAGGACTGGGATCTGCAG -3'
(R):5'- TCAGAAGCCATGGCCAGAGC -3'

Posted On

2014-11-12