Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03144:Arid3a'

410844

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03144

Quality Score

Status

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 79782316 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

probably benign
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 benign
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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135005

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	A	17: 24,600,938 (GRCm39)	Q451K	probably benign	Het
Acly	A	T	11: 100,405,909 (GRCm39)	D294E	possibly damaging	Het
Ascc3	T	C	10: 50,643,539 (GRCm39)	V1830A	probably benign	Het
Atp6v1b1	T	C	6: 83,735,333 (GRCm39)	V467A	probably benign	Het
Ccdc171	A	T	4: 83,736,327 (GRCm39)	I1233L	probably damaging	Het
Ccdc74a	C	A	16: 17,466,730 (GRCm39)	Q146K	possibly damaging	Het
Cdh26	A	G	2: 178,109,967 (GRCm39)	D420G	probably damaging	Het
Ceacam20	T	C	7: 19,705,444 (GRCm39)	V145A	possibly damaging	Het
Cmya5	C	A	13: 93,227,376 (GRCm39)	A2571S	probably damaging	Het
Cog2	T	C	8: 125,267,763 (GRCm39)	S360P	probably damaging	Het
Col26a1	G	T	5: 136,794,202 (GRCm39)	T132N	probably damaging	Het
Col6a2	T	A	10: 76,450,259 (GRCm39)	H224L	probably benign	Het
Cpm	C	T	10: 117,519,319 (GRCm39)	S409L	probably benign	Het
Dock4	G	T	12: 40,742,906 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,557,603 (GRCm39)	N391Y	possibly damaging	Het
Exosc9	G	A	3: 36,608,284 (GRCm39)	G126D	probably damaging	Het
Eya3	T	C	4: 132,420,453 (GRCm39)	S256P	probably benign	Het
Fat3	T	C	9: 16,286,541 (GRCm39)	D994G	probably damaging	Het
Fat4	A	G	3: 39,011,008 (GRCm39)	Q2036R	possibly damaging	Het
Fryl	T	C	5: 73,258,798 (GRCm39)	Q662R	probably null	Het
Gm13271	A	G	4: 88,673,636 (GRCm39)	R178G	probably benign	Het
Gpr165	T	A	X: 95,760,560 (GRCm39)	L279Q	probably damaging	Het
Htr1b	A	G	9: 81,513,998 (GRCm39)	L203P	probably damaging	Het
Kcnb2	T	C	1: 15,780,112 (GRCm39)	L328P	probably damaging	Het
Klhl26	C	T	8: 70,905,214 (GRCm39)	R198H	probably damaging	Het
Nhsl2	A	G	X: 101,123,115 (GRCm39)	R973G	possibly damaging	Het
Nmi	A	T	2: 51,842,546 (GRCm39)	F182Y	probably damaging	Het
Nop2	T	A	6: 125,114,475 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Ooep	G	T	9: 78,285,289 (GRCm39)	A109E	possibly damaging	Het
Or1j21	A	G	2: 36,684,093 (GRCm39)	T282A	probably benign	Het
Pan3	T	C	5: 147,387,591 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,459 (GRCm39)	N127D	probably damaging	Het
Rabgap1	G	A	2: 37,430,544 (GRCm39)	R695H	probably damaging	Het
Rxrg	G	A	1: 167,426,327 (GRCm39)	G3R	possibly damaging	Het
Slc17a3	T	C	13: 24,030,423 (GRCm39)	M178T	probably benign	Het
Slc39a8	A	G	3: 135,589,971 (GRCm39)	E287G	probably benign	Het
Slc44a5	G	T	3: 153,949,177 (GRCm39)	D217Y	possibly damaging	Het
Slc4a10	G	T	2: 62,080,810 (GRCm39)	V346L	probably benign	Het
Slc9a4	T	C	1: 40,651,362 (GRCm39)	Y547H	probably damaging	Het
St6galnac3	A	C	3: 152,911,164 (GRCm39)	Y266D	probably damaging	Het
Stard6	A	T	18: 70,609,182 (GRCm39)	Y3F	possibly damaging	Het
Stk25	C	A	1: 93,556,858 (GRCm39)	L53F	probably damaging	Het
Tep1	A	T	14: 51,081,474 (GRCm39)		probably benign	Het
Tmem151a	T	A	19: 5,135,400 (GRCm39)	M1L	probably benign	Het
Trim10	T	C	17: 37,187,740 (GRCm39)	S319P	probably damaging	Het
Trmt44	G	T	5: 35,721,766 (GRCm39)	P466T	probably benign	Het
Unc79	T	C	12: 103,008,401 (GRCm39)	I256T	probably damaging	Het
Vmn2r125	G	T	4: 156,702,314 (GRCm39)	L33F	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
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
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

Posted On

2016-08-02