Mutagenetix > Incidental Mutation

Incidental Mutation 'R7891:Arid3b'

609340

Institutional Source

Beutler Lab

Gene Symbol

Arid3b

Ensembl Gene

ENSMUSG00000004661

Gene Name

AT-rich interaction domain 3B

Synonyms

Bdp, Dri2

MMRRC Submission

045943-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57697636-57744076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57717442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 233 (C233R)

Ref Sequence

ENSEMBL: ENSMUSP00000126889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004780] [ENSMUST00000098686] [ENSMUST00000114165] [ENSMUST00000164010] [ENSMUST00000164035] [ENSMUST00000170477] [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
AA Change: C233R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126889
Gene: ENSMUSG00000004661
AA Change: C233R

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

probably benign
Transcript: ENSMUST00000170477

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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. 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	G	2: 164,920,864 (GRCm39)	E56D	unknown	Het
9930111J21Rik2	T	C	11: 48,910,543 (GRCm39)	Q630R	probably benign	Het
Abca9	A	G	11: 110,054,098 (GRCm39)	V68A	probably benign	Het
Acnat1	G	A	4: 49,449,181 (GRCm39)	A195V	possibly damaging	Het
Acsl3	C	T	1: 78,681,305 (GRCm39)	A612V	probably benign	Het
Adam12	A	T	7: 133,599,961 (GRCm39)	D115E	probably benign	Het
Adam3	T	A	8: 25,197,513 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,600 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,824,139 (GRCm39)	D154G	probably damaging	Het
Ccdc7b	T	A	8: 129,799,146 (GRCm39)	D74E	unknown	Het
Cckbr	T	A	7: 105,084,557 (GRCm39)	D430E	probably benign	Het
Chpf	T	C	1: 75,451,939 (GRCm39)	H667R	probably benign	Het
Dnah8	A	G	17: 30,931,263 (GRCm39)	E1426G	probably benign	Het
Dync1h1	A	G	12: 110,609,590 (GRCm39)	I2791V	probably benign	Het
Ehd3	A	G	17: 74,123,387 (GRCm39)	N130S	probably benign	Het
Fgfr4	A	G	13: 55,306,964 (GRCm39)	T218A	probably benign	Het
Foxe1	G	A	4: 46,344,599 (GRCm39)	E136K	possibly damaging	Het
Frmpd1	A	G	4: 45,284,478 (GRCm39)	S1100G	probably benign	Het
Gask1b	G	A	3: 79,793,591 (GRCm39)	A20T	probably benign	Het
Gm21886	T	G	18: 80,132,972 (GRCm39)	Q62P	probably null	Het
Golga4	A	G	9: 118,385,434 (GRCm39)	E852G	probably damaging	Het
Gprin3	T	C	6: 59,330,696 (GRCm39)	D537G	probably benign	Het
Gpx5	C	A	13: 21,472,918 (GRCm39)	D139Y	probably damaging	Het
Hmcn1	T	C	1: 150,468,940 (GRCm39)	Y5007C	probably damaging	Het
Igsf10	G	A	3: 59,235,832 (GRCm39)	R1450*	probably null	Het
Kif21a	G	A	15: 90,840,517 (GRCm39)	P1200S	probably damaging	Het
Kmt2c	G	A	5: 25,505,109 (GRCm39)	R3400C	probably damaging	Het
Miox	A	C	15: 89,220,742 (GRCm39)	M216L	probably benign	Het
Mphosph9	T	C	5: 124,428,967 (GRCm39)	Y687C	probably damaging	Het
Mxi1	T	A	19: 53,299,192 (GRCm39)	V21D	probably benign	Het
Nbeal1	T	C	1: 60,299,591 (GRCm39)	L1309P	probably benign	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10ag54	A	T	2: 87,099,421 (GRCm39)	T99S	possibly damaging	Het
Or13c25	C	T	4: 52,911,663 (GRCm39)	V44I	probably benign	Het
Or4c100	G	A	2: 88,356,289 (GRCm39)	V121I	probably benign	Het
Or7g22	T	C	9: 19,049,141 (GRCm39)	M284T	possibly damaging	Het
Polq	A	G	16: 36,848,244 (GRCm39)	T284A	probably damaging	Het
Polrmt	A	T	10: 79,577,714 (GRCm39)	M295K	probably damaging	Het
Pou2af1	G	T	9: 51,144,297 (GRCm39)	M70I	probably damaging	Het
Pou3f1	G	A	4: 124,552,232 (GRCm39)	E245K	probably damaging	Het
Psmb1	C	T	17: 15,714,748 (GRCm39)	V50I	probably benign	Het
Ptgis	T	C	2: 167,069,434 (GRCm39)	D50G	probably damaging	Het
R3hdm2	A	G	10: 127,334,443 (GRCm39)	I955M	probably benign	Het
Rasef	G	A	4: 73,677,935 (GRCm39)	T97I	probably benign	Het
Rasef	T	C	4: 73,709,201 (GRCm39)	T11A	probably benign	Het
Sema4c	C	A	1: 36,588,995 (GRCm39)	L710F	probably damaging	Het
Slc39a10	C	T	1: 46,851,328 (GRCm39)	A721T	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,139 (GRCm39)	C1330R	possibly damaging	Het
Susd1	T	C	4: 59,349,915 (GRCm39)	D560G	possibly damaging	Het
Tnfrsf1b	T	C	4: 144,955,660 (GRCm39)	Y32C	probably damaging	Het
Trhr2	C	A	8: 123,084,083 (GRCm39)	V306F	probably damaging	Het
Trpm6	A	T	19: 18,754,074 (GRCm39)	Q35L	probably benign	Het
Ttbk2	A	G	2: 120,616,510 (GRCm39)	S197P	probably damaging	Het
Uggt2	T	A	14: 119,280,059 (GRCm39)	E806D	probably benign	Het
Ushbp1	T	G	8: 71,841,422 (GRCm39)	Q469P	possibly damaging	Het
Vmn1r73	G	A	7: 11,491,036 (GRCm39)	V285I	possibly damaging	Het
Zfp934	A	C	13: 62,668,003 (GRCm39)	S63R	probably benign	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
R4290:Arid3b	UTSW	9	57,697,713 (GRCm39)	unclassified	probably benign
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
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'- AAGAGTACATGCCACATGCTG -3'
(R):5'- GAGTGGCACATTTACTCAGATACC -3'

Sequencing Primer
(F):5'- TCTGAGGCAGCTATAAGGCTAC -3'
(R):5'- CTCAGATACCTATAGGAGCTCTGAG -3'

Posted On

2019-12-20