Mutagenetix > Incidental Mutation

Incidental Mutation 'R0408:Arid3a'

40115

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

038610-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0408 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79786667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 473 (D473E)

Ref Sequence

ENSEMBL: ENSMUSP00000101015 (fasta)

Gene Model

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

AlphaFold

Q62431

Predicted Effect

probably benign
Transcript: ENSMUST00000019708
AA Change: D473E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: D473E

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 benign
Transcript: ENSMUST00000105376
AA Change: D473E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: D473E

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 benign
Transcript: ENSMUST00000105377
AA Change: D471E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: D471E

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,903,446 (GRCm39)	N1032K	probably damaging	Het
Abcc8	A	G	7: 45,756,457 (GRCm39)	I1416T	probably damaging	Het
Aco2	T	C	15: 81,797,319 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,396,544 (GRCm39)	L2514F	probably damaging	Het
Aldh1a3	A	G	7: 66,055,798 (GRCm39)	V331A	probably damaging	Het
Atg9a	A	G	1: 75,161,939 (GRCm39)	S536P	probably damaging	Het
Atxn7	A	T	14: 14,100,317 (GRCm38)	S668C	probably damaging	Het
Bcar3	A	T	3: 122,302,033 (GRCm39)	I243F	probably damaging	Het
Bend6	G	A	1: 33,901,834 (GRCm39)	P183S	probably damaging	Het
Bfsp2	A	T	9: 103,357,299 (GRCm39)	S43T	probably benign	Het
Camk4	G	A	18: 33,262,845 (GRCm39)	D136N	probably damaging	Het
Ceacam3	G	T	7: 16,885,808 (GRCm39)		probably benign	Het
Chrm3	T	C	13: 9,927,969 (GRCm39)	I356V	probably benign	Het
Clec9a	T	A	6: 129,396,532 (GRCm39)	I133N	possibly damaging	Het
Ctnnd2	T	C	15: 30,634,823 (GRCm39)	L157P	probably damaging	Het
Ddhd2	T	C	8: 26,229,614 (GRCm39)		probably null	Het
Def8	T	C	8: 124,186,656 (GRCm39)	V436A	probably damaging	Het
Dipk1c	T	A	18: 84,738,488 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,518,193 (GRCm39)	K1293R	probably benign	Het
Dync1h1	T	G	12: 110,598,126 (GRCm39)	D1772E	probably benign	Het
Ephx4	G	T	5: 107,561,387 (GRCm39)	G72C	probably damaging	Het
Fam136a	T	G	6: 86,343,707 (GRCm39)	V68G	possibly damaging	Het
Fcgrt	T	C	7: 44,751,363 (GRCm39)	E195G	probably damaging	Het
Fut9	T	A	4: 25,620,319 (GRCm39)	Q165L	possibly damaging	Het
Glb1l	T	C	1: 75,185,479 (GRCm39)	Y77C	probably damaging	Het
Gpr26	T	C	7: 131,569,249 (GRCm39)	V198A	possibly damaging	Het
Gpr26	C	A	7: 131,576,001 (GRCm39)		probably null	Het
Gsdma3	A	C	11: 98,526,164 (GRCm39)	E296A	probably benign	Het
Hyou1	G	T	9: 44,295,989 (GRCm39)	G385W	probably damaging	Het
Il17rb	T	C	14: 29,718,637 (GRCm39)	S482G	probably benign	Het
Itgb4	A	T	11: 115,898,428 (GRCm39)	R1715W	probably damaging	Het
Jak2	A	G	19: 29,263,717 (GRCm39)	S411G	probably benign	Het
Kdm3a	C	T	6: 71,588,663 (GRCm39)	D449N	probably benign	Het
Kifbp	T	C	10: 62,401,832 (GRCm39)	I23M	probably benign	Het
Klhl26	T	C	8: 70,905,130 (GRCm39)	D226G	probably damaging	Het
Klra1	T	A	6: 130,354,737 (GRCm39)	I94F	probably benign	Het
Lama3	A	G	18: 12,589,894 (GRCm39)	D808G	probably benign	Het
Lrp1b	C	T	2: 40,567,603 (GRCm39)	M272I	probably damaging	Het
Masp2	A	G	4: 148,690,496 (GRCm39)	D251G	probably benign	Het
Mob3b	T	C	4: 35,083,991 (GRCm39)	D66G	probably damaging	Het
Myo7a	T	C	7: 97,705,988 (GRCm39)	Q1863R	probably damaging	Het
Naa12	T	C	18: 80,255,029 (GRCm39)	S108P	probably damaging	Het
Or10al3	G	A	17: 38,012,190 (GRCm39)	V210I	probably benign	Het
Or4c103	A	T	2: 88,513,999 (GRCm39)	F26I	probably benign	Het
Pdgfd	T	A	9: 6,293,928 (GRCm39)	Y167*	probably null	Het
Pfas	A	G	11: 68,891,931 (GRCm39)		probably null	Het
Plin1	T	A	7: 79,372,394 (GRCm39)	T393S	probably damaging	Het
Prdm15	A	T	16: 97,636,986 (GRCm39)	N110K	possibly damaging	Het
Prune2	T	A	19: 17,099,674 (GRCm39)	V1726D	probably benign	Het
Sestd1	T	A	2: 77,022,137 (GRCm39)	D518V	probably damaging	Het
Setd2	C	T	9: 110,423,310 (GRCm39)	P344S	probably damaging	Het
Slc22a1	A	T	17: 12,875,828 (GRCm39)	I462N	probably damaging	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d14	G	T	5: 36,728,643 (GRCm39)	T241K	possibly damaging	Het
Uaca	T	C	9: 60,779,141 (GRCm39)	L1176P	possibly damaging	Het
Ube2g1	G	C	11: 72,563,791 (GRCm39)	G52A	probably damaging	Het
Utrn	A	G	10: 12,259,934 (GRCm39)	*957R	probably null	Het
Vmn2r125	A	T	4: 156,703,153 (GRCm39)	E177V	probably damaging	Het
Vmn2r86	A	G	10: 130,282,723 (GRCm39)	F631S	probably damaging	Het
Zc3h13	T	A	14: 75,529,626 (GRCm39)	C42*	probably null	Het
Zc3h14	T	G	12: 98,730,082 (GRCm39)	V13G	probably damaging	Het
Zfat	A	T	15: 68,052,141 (GRCm39)	V551D	probably benign	Het
Zfp618	C	T	4: 63,004,809 (GRCm39)	R70W	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
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
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'- CTACCTGTATCTTTGGCAGGCCAC -3'
(R):5'- ATACTGTTGCTCCCGTTGGCAC -3'

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

Posted On

2013-05-23