Mutagenetix > Incidental Mutation

Incidental Mutation 'R8294:Arid3a'

656510

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

067784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

A to T at 79786535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101016 (fasta)

Gene Model

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

AlphaFold

Q62431

Predicted Effect

silent
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

silent
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

silent
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: 99.7%
20x: 98.9%

Validation Efficiency

98% (42/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,897,217 (GRCm39)	V632A	possibly damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Acat2	T	C	17: 13,175,243 (GRCm39)	I79V	probably benign	Het
Cecr2	C	T	6: 120,710,747 (GRCm39)	A154V	probably damaging	Het
Cog3	A	C	14: 75,954,619 (GRCm39)	L650R	probably damaging	Het
Col12a1	A	T	9: 79,606,594 (GRCm39)	F610I	possibly damaging	Het
Col24a1	A	G	3: 145,186,844 (GRCm39)	D1215G	probably null	Het
Ctsh	C	G	9: 89,950,489 (GRCm39)	A219G	possibly damaging	Het
Dnah10	C	T	5: 124,859,410 (GRCm39)	L2126F	probably damaging	Het
Dock10	A	G	1: 80,488,079 (GRCm39)	V2028A	possibly damaging	Het
Ece1	T	C	4: 137,675,931 (GRCm39)	V435A	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
H4c1	A	G	13: 23,944,957 (GRCm39)	F62L	probably damaging	Het
Hk1	T	G	10: 62,131,624 (GRCm39)	I245L	probably benign	Het
Hyal6	A	C	6: 24,734,378 (GRCm39)	K104Q	possibly damaging	Het
Kalrn	T	C	16: 33,853,954 (GRCm39)	I2017V	probably benign	Het
Khdc4	C	T	3: 88,603,915 (GRCm39)	A244V	probably damaging	Het
Krt72	A	T	15: 101,694,472 (GRCm39)	L141Q	probably damaging	Het
Map3k4	C	A	17: 12,537,500 (GRCm39)	A6S	unknown	Het
Muc6	T	C	7: 141,217,263 (GRCm39)	Y2470C	possibly damaging	Het
Nrip1	A	G	16: 76,089,418 (GRCm39)	V713A	probably damaging	Het
Or10q1b	A	G	19: 13,683,010 (GRCm39)	D273G	probably benign	Het
Or11g26	A	G	14: 50,753,083 (GRCm39)	T141A	possibly damaging	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or6aa1	T	C	7: 86,044,487 (GRCm39)	Y73C	probably damaging	Het
Paip1	C	T	13: 119,587,300 (GRCm39)	T304I	possibly damaging	Het
Pde4dip	A	G	3: 97,674,694 (GRCm39)	L74P	probably damaging	Het
Prkch	T	A	12: 73,806,484 (GRCm39)	L577H	probably damaging	Het
Rp1	A	G	1: 4,416,220 (GRCm39)	S1631P	probably benign	Het
Rph3a	A	G	5: 121,099,429 (GRCm39)	F154S	probably damaging	Het
S1pr5	A	G	9: 21,156,300 (GRCm39)	V42A	possibly damaging	Het
Scaper	G	A	9: 55,517,280 (GRCm39)	L1052F	possibly damaging	Het
Slc44a2	G	T	9: 21,259,643 (GRCm39)	V597F	probably damaging	Het
Srsf1	T	A	11: 87,939,467 (GRCm39)	S116T	probably benign	Het
Ssh2	A	G	11: 77,345,027 (GRCm39)	D1004G	probably benign	Het
St3gal5	T	A	6: 72,074,816 (GRCm39)	D25E		Het
Syt17	A	T	7: 118,009,228 (GRCm39)	Y327N	probably damaging	Het
T	T	A	17: 8,653,364 (GRCm39)	M1K	probably null	Het
Tmem201	A	T	4: 149,815,554 (GRCm39)	I132N	possibly damaging	Het
Tmprss15	A	T	16: 78,868,176 (GRCm39)	C211S	probably benign	Het
Trim36	T	C	18: 46,331,588 (GRCm39)	D7G	probably benign	Het
Trip11	T	A	12: 101,811,160 (GRCm39)	K1863N	possibly damaging	Het
Vmn2r13	A	T	5: 109,322,978 (GRCm39)	S104T	probably benign	Het
Zfp977	T	C	7: 42,229,689 (GRCm39)	T279A	probably benign	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
R8207:Arid3a	UTSW	10	79,786,760 (GRCm39)	critical splice donor site	probably null
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'- AACACATACTTAATGCTGAGGCG -3'
(R):5'- ATGCGGATGTTCATGGGCAG -3'

Sequencing Primer
(F):5'- CCTGGGCTACATGAGAATCTC -3'
(R):5'- TGTCATGGCCAGGAAGCTCTG -3'

Posted On

2020-12-09