Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Arid3b'

323012

Institutional Source

Beutler Lab

Gene Symbol

Arid3b

Ensembl Gene

ENSMUSG00000004661

Gene Name

AT-rich interaction domain 3B

Synonyms

Bdp, Dri2

MMRRC Submission

041655-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57697636-57744076 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 57697713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004780] [ENSMUST00000098686] [ENSMUST00000114165] [ENSMUST00000164010] [ENSMUST00000164035] [ENSMUST00000171949] [ENSMUST00000171444]

AlphaFold

Q9Z1N7

Predicted Effect

probably benign
Transcript: ENSMUST00000004780

SMART Domains

Protein: ENSMUSP00000004780
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
ARID	210	301	9.52e-35	SMART
BRIGHT	214	306	6.43e-39	SMART
low complexity region	339	358	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC
low complexity region	528	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098686

SMART Domains

Protein: ENSMUSP00000096283
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
ARID	210	301	9.52e-35	SMART
BRIGHT	214	306	6.43e-39	SMART
low complexity region	339	358	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114165

SMART Domains

Protein: ENSMUSP00000109802
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164010

SMART Domains

Protein: ENSMUSP00000126889
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
SCOP:d1c20a_	174	240	6e-9	SMART
PDB:4LJX\|B	204	238	4e-9	PDB
Blast:ARID	210	231	5e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000164035

SMART Domains

Protein: ENSMUSP00000131677
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
SCOP:d1c20a_	174	233	2e-8	SMART
PDB:4LJX\|B	204	268	1e-10	PDB
Blast:ARID	210	267	3e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170133

Predicted Effect

probably benign
Transcript: ENSMUST00000171949

SMART Domains

Protein: ENSMUSP00000127525
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	54	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171444

SMART Domains

Protein: ENSMUSP00000130173
Gene: ENSMUSG00000004661

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	88	116	N/A	INTRINSIC
ARID	210	301	9.52e-35	SMART
BRIGHT	214	306	6.43e-39	SMART
low complexity region	339	358	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC
low complexity region	528	559	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

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. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family 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 die before E11.5 displaying variable phenotypes associated with impaired generation of cranial-mesenchymal cells in the first and second branchial arches. Common defects include a wavy neural tube, small branchial arches, and a defective cardiovascular system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,539,738 (GRCm39)	N1545S	probably benign	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Auts2	A	G	5: 131,503,809 (GRCm39)	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cfap221	A	G	1: 119,858,650 (GRCm39)	S728P	probably benign	Het
Chrna9	A	G	5: 66,134,481 (GRCm39)	K444R	probably benign	Het
Cox10	A	T	11: 63,855,081 (GRCm39)	V400E	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Ddr2	A	G	1: 169,818,178 (GRCm39)	V443A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
En1	C	A	1: 120,531,486 (GRCm39)	A242E	unknown	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237 (GRCm39)	Y40F	probably benign	Het
Ift80	A	G	3: 68,871,023 (GRCm39)	I191T	probably damaging	Het
Il19	T	A	1: 130,862,750 (GRCm39)	T58S	possibly damaging	Het
Itga2	G	A	13: 115,002,709 (GRCm39)	R594C	probably damaging	Het
Itga5	C	T	15: 103,260,684 (GRCm39)		probably null	Het
Kcna1	T	C	6: 126,618,838 (GRCm39)	D494G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,281,261 (GRCm39)		probably null	Het
Kmt5b	T	C	19: 3,852,193 (GRCm39)	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Man1c1	T	A	4: 134,291,096 (GRCm39)	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mettl5	T	C	2: 69,711,176 (GRCm39)	N114S	probably benign	Het
Mindy2	T	A	9: 70,538,376 (GRCm39)	R320W	probably damaging	Het
Nrip1	A	G	16: 76,088,876 (GRCm39)	S894P	probably benign	Het
Nup210l	A	T	3: 90,114,633 (GRCm39)	H1736L	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2aj4	A	T	16: 19,384,994 (GRCm39)	M213K	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or2z9	A	G	8: 72,853,612 (GRCm39)	T3A	probably benign	Het
Or4e1	T	C	14: 52,701,442 (GRCm39)	N8S	probably damaging	Het
Or6b6	A	C	7: 106,570,918 (GRCm39)	L211R	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,391,231 (GRCm39)		probably null	Het
Rps15a-ps1	A	G	10: 106,028,496 (GRCm39)		noncoding transcript	Het
Rps27a	A	G	11: 29,495,933 (GRCm39)	Y140H	probably benign	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Ttc19	A	G	11: 62,176,753 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,077 (GRCm39)	D332G	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,873,605 (GRCm39)	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,419,807 (GRCm39)		noncoding transcript	Het

Other mutations in Arid3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Arid3b	APN	9	57,741,207 (GRCm39)	missense	possibly damaging	0.92
IGL01394:Arid3b	APN	9	57,702,317 (GRCm39)	missense	probably damaging	1.00
IGL01950:Arid3b	APN	9	57,702,257 (GRCm39)	missense	probably damaging	1.00
R0970:Arid3b	UTSW	9	57,740,834 (GRCm39)	intron	probably benign
R1848:Arid3b	UTSW	9	57,703,960 (GRCm39)	nonsense	probably null
R1940:Arid3b	UTSW	9	57,703,431 (GRCm39)	missense	possibly damaging	0.86
R4293:Arid3b	UTSW	9	57,697,713 (GRCm39)	unclassified	probably benign
R4424:Arid3b	UTSW	9	57,741,151 (GRCm39)	missense	probably benign	0.22
R4449:Arid3b	UTSW	9	57,705,404 (GRCm39)	nonsense	probably null
R5353:Arid3b	UTSW	9	57,702,320 (GRCm39)	splice site	probably null
R5544:Arid3b	UTSW	9	57,705,380 (GRCm39)	nonsense	probably null
R6828:Arid3b	UTSW	9	57,717,446 (GRCm39)	critical splice donor site	probably null
R7168:Arid3b	UTSW	9	57,712,818 (GRCm39)	missense	probably benign	0.00
R7254:Arid3b	UTSW	9	57,704,037 (GRCm39)	missense	probably damaging	0.99
R7398:Arid3b	UTSW	9	57,703,495 (GRCm39)	missense	probably benign	0.01
R7882:Arid3b	UTSW	9	57,703,780 (GRCm39)	missense	possibly damaging	0.85
R7891:Arid3b	UTSW	9	57,717,442 (GRCm39)	missense	probably benign	0.00
R8877:Arid3b	UTSW	9	57,740,904 (GRCm39)	missense	probably damaging	0.99
R9043:Arid3b	UTSW	9	57,699,900 (GRCm39)	missense	possibly damaging	0.75
R9094:Arid3b	UTSW	9	57,741,327 (GRCm39)	missense	probably damaging	1.00
R9186:Arid3b	UTSW	9	57,702,217 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCTGACAACACGGCTGAG -3'
(R):5'- AAATGCAAGAGCTGGGTGCC -3'

Sequencing Primer
(F):5'- ACGGAGTTCCAGCCCTCTG -3'
(R):5'- GTGATAGCACATGGTAGC -3'

Posted On

2015-06-20