Mutagenetix > Incidental Mutation

Incidental Mutation 'R2190:Arid3a'

238046

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

040192-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79782365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 252 (D252G)

Ref Sequence

ENSEMBL: ENSMUSP00000101016 (fasta)

Gene Model

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

AlphaFold

Q62431

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019708
AA Change: D252G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: D252G

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

possibly damaging
Transcript: ENSMUST00000105376
AA Change: D252G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: D252G

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

possibly damaging
Transcript: ENSMUST00000105377
AA Change: D252G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: D252G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135005

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,766,785 (GRCm39)	T56S	probably damaging	Het
Acbd6	A	T	1: 155,500,652 (GRCm39)	H204L	probably damaging	Het
Acnat2	T	A	4: 49,383,551 (GRCm39)	M1L	probably benign	Het
Adgrg5	A	T	8: 95,660,579 (GRCm39)	I73F	probably damaging	Het
Ankrd52	A	G	10: 128,219,487 (GRCm39)	T474A	probably benign	Het
Aspg	G	T	12: 112,091,322 (GRCm39)	E501D	probably damaging	Het
Bicral	A	G	17: 47,136,049 (GRCm39)	I387T	probably damaging	Het
Bub1	T	C	2: 127,652,645 (GRCm39)	N574S	probably benign	Het
Casr	G	A	16: 36,315,778 (GRCm39)	T764M	probably damaging	Het
Ccdc60	A	G	5: 116,295,639 (GRCm39)	S259P	probably damaging	Het
Ccne2	A	T	4: 11,197,241 (GRCm39)	N181I	probably benign	Het
Chd4	A	G	6: 125,091,260 (GRCm39)	D89G	probably benign	Het
Col25a1	C	T	3: 130,378,364 (GRCm39)	P606S	probably damaging	Het
Dcc	A	G	18: 71,680,491 (GRCm39)	S582P	possibly damaging	Het
Dlg4	A	G	11: 69,933,430 (GRCm39)	D619G	probably damaging	Het
Elavl2	C	T	4: 91,152,331 (GRCm39)	V129I	probably benign	Het
Epha3	A	G	16: 63,366,552 (GRCm39)	I965T	probably benign	Het
Fbxw16	G	A	9: 109,265,739 (GRCm39)	S360L	probably damaging	Het
Fgf14	T	C	14: 124,221,330 (GRCm39)	Y158C	probably damaging	Het
Gm44511	A	G	6: 128,803,163 (GRCm39)	I16T	possibly damaging	Het
Has2	C	A	15: 56,531,183 (GRCm39)	V511F	probably benign	Het
Heatr5b	G	A	17: 79,109,185 (GRCm39)	R1025C	probably damaging	Het
Hsd17b12	T	C	2: 93,864,408 (GRCm39)	Y233C	probably benign	Het
Il36rn	A	T	2: 24,170,831 (GRCm39)	I43F	probably damaging	Het
Inpp5b	T	A	4: 124,678,988 (GRCm39)	I465N	probably damaging	Het
Irak2	T	A	6: 113,663,904 (GRCm39)	N423K	probably damaging	Het
Itga2	C	A	13: 115,007,141 (GRCm39)	V396L	probably benign	Het
Itprid1	A	G	6: 55,874,685 (GRCm39)	T212A	possibly damaging	Het
Lipo2	A	T	19: 33,725,969 (GRCm39)	N94K	probably damaging	Het
Lrrc37a	T	C	11: 103,390,869 (GRCm39)	T1519A	possibly damaging	Het
Macf1	A	G	4: 123,353,005 (GRCm39)	V1558A	probably benign	Het
Mocos	C	A	18: 24,797,114 (GRCm39)	H91Q	probably benign	Het
Myh14	G	A	7: 44,310,487 (GRCm39)	T132I	probably damaging	Het
Nlrp2	A	T	7: 5,322,237 (GRCm39)	D803E	possibly damaging	Het
Ntsr2	T	A	12: 16,704,018 (GRCm39)	I173N	probably damaging	Het
Or14c43	A	G	7: 86,115,573 (GRCm39)	Y318C	possibly damaging	Het
Or5b105	T	G	19: 13,079,857 (GRCm39)	K270N	probably damaging	Het
Pitx3	T	C	19: 46,125,486 (GRCm39)	Y86C	probably damaging	Het
Pkp1	T	C	1: 135,807,709 (GRCm39)	S520G	probably benign	Het
Pygo1	C	T	9: 72,852,529 (GRCm39)	Q239*	probably null	Het
Rab13	A	G	3: 90,130,851 (GRCm39)	E68G	probably damaging	Het
Rfx7	A	G	9: 72,525,201 (GRCm39)	E797G	probably benign	Het
Slc5a1	T	C	5: 33,261,937 (GRCm39)		probably null	Het
Slco1c1	A	G	6: 141,508,893 (GRCm39)	T518A	probably benign	Het
Spint1	A	G	2: 119,068,661 (GRCm39)	I132V	probably benign	Het
Stard9	T	A	2: 120,544,601 (GRCm39)	I4514N	probably benign	Het
Tenm3	T	G	8: 48,848,579 (GRCm39)	S87R	probably damaging	Het
Thap4	G	T	1: 93,678,381 (GRCm39)	P135Q	probably damaging	Het
Tmed9	A	G	13: 55,741,156 (GRCm39)	E57G	probably benign	Het
Tnrc18	C	T	5: 142,761,644 (GRCm39)	V594I	unknown	Het
Trmt1	A	T	8: 85,416,470 (GRCm39)	K64*	probably null	Het
Usf2	A	G	7: 30,654,606 (GRCm39)	V198A	probably damaging	Het
Usp14	A	T	18: 10,007,835 (GRCm39)	C168S	probably damaging	Het
Vav3	C	A	3: 109,470,130 (GRCm39)	T525K	probably damaging	Het
Vmn1r52	A	G	6: 90,156,151 (GRCm39)	I152V	probably benign	Het
Vmn2r81	A	G	10: 79,104,085 (GRCm39)	D236G	possibly damaging	Het
Wdr19	G	A	5: 65,401,509 (GRCm39)	V975I	possibly 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
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
R8207:Arid3a	UTSW	10	79,786,760 (GRCm39)	critical splice donor site	probably null
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'- TAGTGACCTCTAGATGTGGTAGAG -3'
(R):5'- GTGTTTACAGAAGCTGGGCC -3'

Sequencing Primer
(F):5'- CTAGATGTGGTAGAGGGGTCCCC -3'
(R):5'- GGGATTGTAATGACCCAGACCC -3'

Posted On

2014-10-02