Mutagenetix > Incidental Mutation

Incidental Mutation 'R7966:Arid3a'

650383

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

046009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7966 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79767889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000019708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019708] [ENSMUST00000105376] [ENSMUST00000105377] [ENSMUST00000131118]

AlphaFold

Q62431

Predicted Effect

probably benign
Transcript: ENSMUST00000019708
AA Change: T229A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: T229A

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: T229A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: T229A

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: T229A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: T229A

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

probably benign
Transcript: ENSMUST00000131118

SMART Domains

Protein: ENSMUSP00000114261
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,219,903 (GRCm39)	I817L	probably benign	Het
Adcy8	A	T	15: 64,573,939 (GRCm39)	W1055R	probably damaging	Het
Anks4b	A	G	7: 119,781,923 (GRCm39)	E318G	probably benign	Het
Cckar	T	C	5: 53,858,580 (GRCm39)	K247E	possibly damaging	Het
Cfap52	A	T	11: 67,844,571 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,449 (GRCm39)	V538A	probably damaging	Het
Cped1	T	C	6: 22,059,953 (GRCm39)		probably null	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyp4v3	G	T	8: 45,785,954 (GRCm39)	A21E	probably benign	Het
Cytip	T	C	2: 58,037,944 (GRCm39)	E140G	probably damaging	Het
D130043K22Rik	A	C	13: 25,077,406 (GRCm39)	Q1013P	probably damaging	Het
Dpp6	A	G	5: 27,928,370 (GRCm39)	M763V	probably benign	Het
Eps15	T	A	4: 109,178,340 (GRCm39)	Y193N	probably damaging	Het
Ghrhr	T	C	6: 55,356,083 (GRCm39)	W59R	probably damaging	Het
Hdac4	A	G	1: 91,861,402 (GRCm39)	V1056A	possibly damaging	Het
Ipcef1	T	C	10: 6,850,668 (GRCm39)	T312A	probably damaging	Het
Itpr3	T	C	17: 27,331,002 (GRCm39)		probably null	Het
Kif6	A	G	17: 49,993,453 (GRCm39)	I182V	probably damaging	Het
Lcn3	A	G	2: 25,656,389 (GRCm39)	K90E	probably damaging	Het
Lig3	T	C	11: 82,681,342 (GRCm39)	S446P	probably damaging	Het
Ncln	G	A	10: 81,326,103 (GRCm39)	Q283*	probably null	Het
Nlrp4c	A	G	7: 6,069,322 (GRCm39)	T408A	probably damaging	Het
Oas1h	T	C	5: 121,009,962 (GRCm39)	F346L	probably damaging	Het
Olig2	AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	16: 91,023,962 (GRCm39)		probably benign	Het
Or2ad1	A	T	13: 21,326,356 (GRCm39)	Y290*	probably null	Het
Or52b4	T	C	7: 102,184,623 (GRCm39)	I223T	probably damaging	Het
Or52s1b	A	T	7: 102,822,062 (GRCm39)	F261I	probably damaging	Het
Or8b55	A	G	9: 38,727,536 (GRCm39)	I246V	probably benign	Het
Pdcd1	A	T	1: 93,969,186 (GRCm39)	V44E	probably damaging	Het
Prdm13	A	T	4: 21,679,932 (GRCm39)	I186N	unknown	Het
Prpf4b	A	G	13: 35,085,428 (GRCm39)	D958G	probably damaging	Het
Prss59	A	T	6: 40,903,022 (GRCm39)	Y117N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Robo1	T	A	16: 72,780,760 (GRCm39)	I830N	possibly damaging	Het
Scaper	A	G	9: 55,669,611 (GRCm39)	V355A	probably damaging	Het
Scn3b	C	T	9: 40,193,846 (GRCm39)	A191V	probably benign	Het
Slc13a3	G	C	2: 165,272,155 (GRCm39)	S296C	probably benign	Het
Slc6a16	T	A	7: 44,917,477 (GRCm39)	I445N	possibly damaging	Het
Snrnp35	A	G	5: 124,628,565 (GRCm39)	Y126C	possibly damaging	Het
Spock2	A	G	10: 59,957,554 (GRCm39)	H98R	possibly damaging	Het
Sptssb	A	T	3: 69,728,286 (GRCm39)	Y50*	probably null	Het
Syne1	A	G	10: 5,066,965 (GRCm39)		probably null	Het
Tcf21	T	C	10: 22,695,706 (GRCm39)	T33A	probably benign	Het
Tecta	A	G	9: 42,306,258 (GRCm39)	F57L	probably damaging	Het
Tgs1	C	A	4: 3,586,215 (GRCm39)	P364H	probably benign	Het
Tmem242	A	G	17: 5,461,711 (GRCm39)	I119T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn2r3	T	A	3: 64,186,235 (GRCm39)	N150I	probably damaging	Het
Vmn2r69	A	G	7: 85,060,762 (GRCm39)	I274T	possibly damaging	Het
Vwf	T	A	6: 125,616,304 (GRCm39)	L1206*	probably null	Het
Zfp157	T	A	5: 138,445,833 (GRCm39)	W63R	probably benign	Het
Zfp455	T	C	13: 67,347,302 (GRCm39)	Y10H	probably benign	Het
Zfp654	T	C	16: 64,605,239 (GRCm39)	T447A	probably damaging	Het
Zhx2	T	C	15: 57,685,063 (GRCm39)	I144T	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
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'- AACTGATGTGGGGCAAGCTG -3'
(R):5'- GGCAGAGTTCCACATTATTCCGAG -3'

Sequencing Primer
(F):5'- TGTCCATTCCAGGAAGTCCAAGTG -3'
(R):5'- GTTAAAACTCACACAGGGTCTAAG -3'

Posted On

2020-09-15