Mutagenetix > Incidental Mutation

Incidental Mutation 'R5184:Arid3a'

397764

Institutional Source

Beutler Lab

Gene Symbol

Arid3a

Ensembl Gene

ENSMUSG00000019564

Gene Name

AT-rich interaction domain 3A

Synonyms

Dri1, Bright

MMRRC Submission

042763-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5184 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

79762877-79790852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79786603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 452 (E452G)

Ref Sequence

ENSEMBL: ENSMUSP00000101015 (fasta)

Gene Model

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

AlphaFold

Q62431

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019708
AA Change: E452G

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: E452G

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: E452G

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: E452G

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: E450G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: E450G

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

Meta Mutation Damage Score

0.1368

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (63/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aph1a	T	A	3: 95,803,051 (GRCm39)		probably null	Het
Barhl2	A	G	5: 106,605,506 (GRCm39)	S68P	unknown	Het
Carf	T	C	1: 60,147,333 (GRCm39)	S17P	probably damaging	Het
Ccdc90b	A	G	7: 92,224,019 (GRCm39)	D145G	probably damaging	Het
Cyp7a1	A	T	4: 6,271,207 (GRCm39)	N316K	probably benign	Het
Daam2	A	G	17: 49,801,419 (GRCm39)	I106T	possibly damaging	Het
Dmtf1	A	G	5: 9,176,641 (GRCm39)	V437A	probably benign	Het
E2f2	A	T	4: 135,911,751 (GRCm39)	Y254F	possibly damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Ern2	T	C	7: 121,779,182 (GRCm39)	T221A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fermt1	A	G	2: 132,783,883 (GRCm39)	V42A	possibly damaging	Het
Fgf3	A	G	7: 144,396,547 (GRCm39)	D187G	probably damaging	Het
Flnb	T	A	14: 7,901,945 (GRCm38)	V936E	probably damaging	Het
Herc2	T	C	7: 55,772,099 (GRCm39)	Y1093H	probably damaging	Het
Invs	A	G	4: 48,283,242 (GRCm39)		probably benign	Het
Katnb1	T	A	8: 95,824,608 (GRCm39)	I534N	possibly damaging	Het
Kcnq5	A	T	1: 21,472,711 (GRCm39)	D826E	probably damaging	Het
Klra9	A	T	6: 130,165,675 (GRCm39)	N113K	probably benign	Het
Knl1	A	G	2: 118,899,657 (GRCm39)	K453E	probably damaging	Het
Lgi4	C	T	7: 30,770,182 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,739,058 (GRCm39)	S289G	probably benign	Het
Mapre1	T	A	2: 153,599,987 (GRCm39)	V137E	possibly damaging	Het
Mark4	A	G	7: 19,181,168 (GRCm39)	F144L	possibly damaging	Het
Mogat2	G	T	7: 98,872,842 (GRCm39)	A114E	possibly damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nell2	A	G	15: 95,425,690 (GRCm39)	L19P	possibly damaging	Het
Nfia	A	T	4: 97,671,585 (GRCm39)	K98N	probably damaging	Het
Nutm1	T	A	2: 112,079,345 (GRCm39)	T857S	possibly damaging	Het
Or14a257	TG	T	7: 86,138,499 (GRCm39)		probably null	Het
Or52a5	T	C	7: 103,426,611 (GRCm39)	K314E	probably benign	Het
Or8g17	T	A	9: 38,929,998 (GRCm39)	I280F	probably damaging	Het
Pde10a	T	C	17: 9,195,987 (GRCm39)	L706P	probably damaging	Het
Penk	A	G	4: 4,134,296 (GRCm39)	L117P	probably damaging	Het
Pgap1	A	G	1: 54,521,015 (GRCm39)	S876P	probably damaging	Het
Pmfbp1	T	C	8: 110,254,399 (GRCm39)	I478T	possibly damaging	Het
Pole	G	A	5: 110,442,800 (GRCm39)	E318K	possibly damaging	Het
Prr12	C	A	7: 44,695,801 (GRCm39)	V1222L	unknown	Het
Prune2	T	C	19: 17,193,721 (GRCm39)	S3070P	possibly damaging	Het
Rnf19a	A	G	15: 36,244,342 (GRCm39)	C573R	probably benign	Het
Rp1l1	T	C	14: 64,267,629 (GRCm39)	S1072P	probably damaging	Het
Rskr	T	C	11: 78,183,573 (GRCm39)	F194L	probably benign	Het
Semp2l1	A	T	1: 32,584,729 (GRCm39)	C394S	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,850 (GRCm39)	N315S	possibly damaging	Het
Snph	T	C	2: 151,436,464 (GRCm39)	I86V	probably damaging	Het
Sox6	A	G	7: 115,376,463 (GRCm39)	Y90H	probably damaging	Het
Tbc1d13	T	A	2: 30,032,323 (GRCm39)	C145S	probably benign	Het
Tcp11l1	T	C	2: 104,530,289 (GRCm39)	E65G	probably damaging	Het
Thrb	G	T	14: 18,011,181 (GRCm38)	E186*	probably null	Het
Tmem101	A	G	11: 102,047,059 (GRCm39)	Y38H	possibly damaging	Het
Trarg1	T	A	11: 76,571,134 (GRCm39)	L50Q	probably damaging	Het
Urb1	A	T	16: 90,580,162 (GRCm39)		probably null	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Usp25	A	G	16: 76,906,115 (GRCm39)	E857G	probably benign	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr35	T	C	12: 9,068,142 (GRCm39)	L775P	probably damaging	Het
Xpnpep1	T	C	19: 53,001,845 (GRCm39)	T134A	probably benign	Het
Zbtb10	T	C	3: 9,329,731 (GRCm39)	V363A	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	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
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'- TTGGTAATAAAGCCAGCTCTCCC -3'
(R):5'- TCGTCTGACTGATGTGCCTG -3'

Sequencing Primer
(F):5'- AGCTCTCCCCCAGGTCC -3'
(R):5'- TGCCTGGCACACACAGG -3'

Posted On

2016-07-06