Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Arid3b'

574558

Institutional Source

Beutler Lab

Gene Symbol

Arid3b

Ensembl Gene

ENSMUSG00000004661

Gene Name

AT-rich interaction domain 3B

Synonyms

Bdp, Dri2

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57697636-57744076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57712818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 232 (D232E)

Ref Sequence

ENSEMBL: ENSMUSP00000131677 (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

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
AA Change: D232E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131677
Gene: ENSMUSG00000004661
AA Change: D232E

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	probably damaging	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
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'- AAGATGCTGACTCACGCTG -3'
(R):5'- AAATGCTCTGTGCCCAGGAC -3'

Sequencing Primer
(F):5'- GCGCTAGTTCACTTAGGCAAG -3'
(R):5'- GACACCCTTTCTAATGGACAGAGATG -3'

Posted On

2019-09-18