Mutagenetix > Incidental Mutation

Incidental Mutation 'R8207:Arid3a'

635967

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

067630-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 79786760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019708] [ENSMUST00000105376] [ENSMUST00000105377]

AlphaFold

Q62431

Predicted Effect

probably null
Transcript: ENSMUST00000019708

SMART Domains

Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	27	34	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
coiled coil region	133	167	N/A	INTRINSIC
ARID	240	331	2.1e-36	SMART
BRIGHT	244	336	7.73e-42	SMART
coiled coil region	436	462	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
low complexity region	555	583	N/A	INTRINSIC
low complexity region	588	599	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105376

SMART Domains

Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	27	34	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
coiled coil region	133	167	N/A	INTRINSIC
ARID	240	331	2.1e-36	SMART
BRIGHT	244	336	7.73e-42	SMART
coiled coil region	436	462	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
low complexity region	555	583	N/A	INTRINSIC
low complexity region	588	599	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105377

SMART Domains

Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	27	34	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
coiled coil region	133	167	N/A	INTRINSIC
ARID	240	331	2.1e-36	SMART
BRIGHT	244	336	7.73e-42	SMART
coiled coil region	434	460	N/A	INTRINSIC
low complexity region	539	550	N/A	INTRINSIC
low complexity region	553	581	N/A	INTRINSIC
low complexity region	586	597	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (49/49)

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 ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E13.5 due to impaired erythropoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,552,491 (GRCm39)	M150I	possibly damaging	Het
Arhgef11	A	G	3: 87,606,082 (GRCm39)	N279S	possibly damaging	Het
Casp8ap2	A	G	4: 32,646,446 (GRCm39)	T1840A	possibly damaging	Het
Ccdc14	T	A	16: 34,525,413 (GRCm39)	N235K	possibly damaging	Het
Cdh20	T	C	1: 109,922,076 (GRCm39)	V56A	probably damaging	Het
Clec16a	G	A	16: 10,512,574 (GRCm39)	R837H	probably damaging	Het
Clec16a	A	G	16: 10,445,312 (GRCm39)	N518S	probably benign	Het
Cog7	T	C	7: 121,576,515 (GRCm39)	D137G	possibly damaging	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Efcab8	C	G	2: 153,631,145 (GRCm39)	L192V	probably damaging	Het
Farp2	A	G	1: 93,548,965 (GRCm39)	R1024G	probably benign	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmo1	T	A	1: 162,677,676 (GRCm39)	T147S	probably benign	Het
Fryl	A	C	5: 73,257,843 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,770,122 (GRCm39)	I305L	probably benign	Het
Guca2a	A	G	4: 119,494,951 (GRCm39)	N2D	unknown	Het
Iqcd	C	T	5: 120,740,514 (GRCm39)	R282W	probably damaging	Het
Lamc1	A	C	1: 153,126,268 (GRCm39)	C475G	probably damaging	Het
Map3k5	AAAAGAAAAAGA	AA	10: 19,986,612 (GRCm39)		probably null	Het
Med13	A	T	11: 86,194,375 (GRCm39)	D789E	probably damaging	Het
Mn1	A	G	5: 111,569,651 (GRCm39)	Y1207C	probably damaging	Het
Mroh2b	A	G	15: 4,967,892 (GRCm39)	D977G	possibly damaging	Het
Mrpl53	A	T	6: 83,086,169 (GRCm39)	N26I	probably damaging	Het
Nell1	A	T	7: 49,869,760 (GRCm39)		probably null	Het
Ogdh	T	G	11: 6,299,329 (GRCm39)	F743V	probably benign	Het
Or4d10b	A	T	19: 12,036,222 (GRCm39)	M298K	possibly damaging	Het
Or4n4	C	T	14: 50,519,036 (GRCm39)	V225I	probably benign	Het
Or6c3	A	G	10: 129,308,953 (GRCm39)	T131A	probably benign	Het
Plscr1l1	T	A	9: 92,233,061 (GRCm39)	F61L	probably benign	Het
Pmvk	A	G	3: 89,375,899 (GRCm39)	E174G	probably benign	Het
Pou6f2	T	C	13: 18,414,158 (GRCm39)	N206D		Het
Prelid3a	A	T	18: 67,606,018 (GRCm39)	S42C	probably benign	Het
Riok1	T	A	13: 38,236,296 (GRCm39)	H347Q	probably damaging	Het
Ryr1	A	G	7: 28,789,650 (GRCm39)	L1488P	probably damaging	Het
Shkbp1	A	G	7: 27,052,109 (GRCm39)	V158A	probably benign	Het
Slc9c1	A	G	16: 45,360,076 (GRCm39)	I43M	possibly damaging	Het
Smarca2	A	G	19: 26,654,080 (GRCm39)	N755S	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfb2m	G	A	1: 179,373,668 (GRCm39)	P10L	probably benign	Het
Trim30c	T	C	7: 104,032,703 (GRCm39)	M252V	probably benign	Het
Ttll1	A	G	15: 83,384,279 (GRCm39)	L116P	probably damaging	Het
Tubd1	C	T	11: 86,440,248 (GRCm39)	H91Y	possibly damaging	Het
Vgll4	A	G	6: 114,839,786 (GRCm39)	S175P	probably damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Vmn2r80	C	T	10: 79,030,150 (GRCm39)	Q659*	probably null	Het
Zfp382	A	G	7: 29,833,840 (GRCm39)	D497G	possibly damaging	Het
Zfp41	A	G	15: 75,490,384 (GRCm39)	E112G	probably damaging	Het
Zfyve26	A	G	12: 79,307,605 (GRCm39)	S1754P	probably damaging	Het

Other mutations in Arid3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Arid3a	APN	10	79,786,468 (GRCm39)	missense	probably damaging	0.98
IGL02563:Arid3a	APN	10	79,786,717 (GRCm39)	missense	probably damaging	0.99
IGL03144:Arid3a	APN	10	79,782,316 (GRCm39)	splice site	probably benign
IGL03228:Arid3a	APN	10	79,786,578 (GRCm39)	missense	possibly damaging	0.80
IGL03347:Arid3a	APN	10	79,787,113 (GRCm39)	missense	possibly damaging	0.65
R0049:Arid3a	UTSW	10	79,766,899 (GRCm39)	missense	possibly damaging	0.66
R0408:Arid3a	UTSW	10	79,786,667 (GRCm39)	missense	probably benign	0.00
R0479:Arid3a	UTSW	10	79,787,128 (GRCm39)	missense	possibly damaging	0.80
R1938:Arid3a	UTSW	10	79,786,540 (GRCm39)	missense	probably damaging	0.99
R2190:Arid3a	UTSW	10	79,782,365 (GRCm39)	missense	possibly damaging	0.80
R4628:Arid3a	UTSW	10	79,766,992 (GRCm39)	missense	possibly damaging	0.95
R5184:Arid3a	UTSW	10	79,786,603 (GRCm39)	missense	possibly damaging	0.73
R7014:Arid3a	UTSW	10	79,786,718 (GRCm39)	missense	possibly damaging	0.50
R7966:Arid3a	UTSW	10	79,767,889 (GRCm39)	missense	probably benign	0.02
R8294:Arid3a	UTSW	10	79,786,535 (GRCm39)	synonymous	silent
R8918:Arid3a	UTSW	10	79,784,765 (GRCm39)	missense	probably benign	0.08
R9142:Arid3a	UTSW	10	79,787,612 (GRCm39)	missense	unknown
Z1177:Arid3a	UTSW	10	79,785,264 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGTATCTTTGGCAGGCC -3'
(R):5'- TCCTCTAGAAGGCCTTTTCCAAG -3'

Sequencing Primer
(F):5'- ACCCTGTTGTCGCAGCC -3'
(R):5'- GAACAGGCATCTTTATGTAGCTC -3'

Posted On

2020-07-13