Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Arid3a'

545205

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

045115-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7014 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79786718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 488 (M488I)

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: M490I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: M490I

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: M490I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: M490I

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: M488I

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: M488I

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

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,278,198 (GRCm39)	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,092,727 (GRCm39)	I264T	probably benign	Het
Auts2	A	G	5: 131,494,961 (GRCm39)	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,158,532 (GRCm39)		probably null	Het
Bpifb5	C	A	2: 154,066,876 (GRCm39)	S43*	probably null	Het
Carhsp1	A	G	16: 8,478,869 (GRCm39)	V128A	probably benign	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Cdk6	C	G	5: 3,523,152 (GRCm39)	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,632,416 (GRCm39)	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,557,277 (GRCm39)	E225G	probably damaging	Het
Copg1	T	A	6: 87,879,322 (GRCm39)	L456Q	probably damaging	Het
Ctif	T	A	18: 75,570,279 (GRCm39)	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,569,241 (GRCm39)	I917T	probably benign	Het
Cyth1	T	C	11: 118,103,477 (GRCm39)	D9G	probably benign	Het
Dnajb1	T	C	8: 84,336,884 (GRCm39)	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,480,575 (GRCm39)	Y139*	probably null	Het
Efcab3	A	G	11: 104,584,248 (GRCm39)	T100A	probably benign	Het
Fam162a	A	T	16: 35,870,302 (GRCm39)	V59E	probably damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmo6	C	G	1: 162,753,877 (GRCm39)	R112T	probably benign	Het
Gm17087	T	A	17: 8,785,304 (GRCm39)	D133V	probably benign	Het
Gm42669	A	G	5: 107,656,142 (GRCm39)	I802V	probably benign	Het
Gp2	T	C	7: 119,050,868 (GRCm39)	N288D	probably damaging	Het
Gstm7	C	T	3: 107,834,278 (GRCm39)	D196N	probably benign	Het
Hsph1	A	T	5: 149,553,865 (GRCm39)	V201D	probably damaging	Het
Il20ra	T	C	10: 19,588,458 (GRCm39)	L26P	unknown	Het
Itpr1	T	A	6: 108,408,459 (GRCm39)		probably null	Het
Kcns3	A	T	12: 11,141,688 (GRCm39)	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,375,475 (GRCm39)	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,153,999 (GRCm39)	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,502 (GRCm39)	I294N	probably damaging	Het
Map1a	A	C	2: 121,130,720 (GRCm39)	N512T	probably damaging	Het
Marchf8	C	G	6: 116,380,504 (GRCm39)	C118W	probably damaging	Het
Marchf8	T	G	6: 116,380,505 (GRCm39)	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,025,741 (GRCm39)	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,525,947 (GRCm39)	Q27L	probably benign	Het
Muc16	T	A	9: 18,569,532 (GRCm39)	T996S	unknown	Het
Mug1	C	T	6: 121,838,084 (GRCm39)	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866 (GRCm39)	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,190 (GRCm39)		probably null	Het
Or2b7	A	G	13: 21,740,108 (GRCm39)	F28S	probably benign	Het
Or2l5	A	T	16: 19,334,206 (GRCm39)	F60Y	probably benign	Het
Or5w17	T	C	2: 87,584,215 (GRCm39)	I41V	probably benign	Het
Or5w1b	A	T	2: 87,476,320 (GRCm39)	L49Q	probably damaging	Het
Or7e177	T	A	9: 20,211,959 (GRCm39)	C154*	probably null	Het
Parp9	T	A	16: 35,780,433 (GRCm39)		probably null	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pbx1	T	A	1: 168,258,949 (GRCm39)	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,622,738 (GRCm39)	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,647 (GRCm39)	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,373,061 (GRCm39)	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,634,904 (GRCm39)	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,114,931 (GRCm39)		probably benign	Het
Pknox2	T	A	9: 36,820,963 (GRCm39)	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,922,429 (GRCm39)	I582T	probably damaging	Het
Prtg	T	C	9: 72,799,267 (GRCm39)	Y766H	possibly damaging	Het
Prxl2a	T	C	14: 40,724,451 (GRCm39)	E71G	probably benign	Het
Rabgap1	A	G	2: 37,450,575 (GRCm39)	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,169,642 (GRCm39)	N60K	probably damaging	Het
Rnf150	C	T	8: 83,769,292 (GRCm39)	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,523,331 (GRCm39)	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,268,401 (GRCm39)	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,572,303 (GRCm39)	G223C	probably null	Het
Sema6a	T	A	18: 47,431,284 (GRCm39)	N138I	probably damaging	Het
Septin5	T	A	16: 18,443,659 (GRCm39)	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,804,234 (GRCm39)	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,511,792 (GRCm39)	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,145,183 (GRCm39)	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,474,709 (GRCm39)	I538V	probably benign	Het
Slco4c1	A	T	1: 96,751,506 (GRCm39)		probably null	Het
Smarcad1	T	C	6: 65,029,654 (GRCm39)	S81P	probably damaging	Het
Smyd1	T	C	6: 71,215,611 (GRCm39)	D116G	probably damaging	Het
Themis	T	C	10: 28,665,703 (GRCm39)	Y589H	probably benign	Het
Trim30d	T	C	7: 104,132,543 (GRCm39)	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,918 (GRCm39)	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,201,289 (GRCm39)	Y405C	probably damaging	Het
Wdfy3	A	G	5: 102,042,775 (GRCm39)		probably null	Het
Wiz	C	A	17: 32,580,840 (GRCm39)	A83S	probably damaging	Het
Zfp1002	A	T	2: 150,097,182 (GRCm39)	C82*	probably null	Het
Zmym6	T	A	4: 127,017,337 (GRCm39)	Y947*	probably null	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
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'- ACCTGTATCTTTGGCAGGCC -3'
(R):5'- TCCTCTAGAAGGCCTTTTCCAAG -3'

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

Posted On

2019-05-13