Mutagenetix > Incidental Mutation

Incidental Mutation 'R7398:Arid3b'

573972

Institutional Source

Beutler Lab

Gene Symbol

Arid3b

Ensembl Gene

ENSMUSG00000004661

Gene Name

AT-rich interaction domain 3B

Synonyms

Bdp, Dri2

MMRRC Submission

045480-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7398 (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 T at 57703495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 445 (S445T)

Ref Sequence

ENSEMBL: ENSMUSP00000004780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004780] [ENSMUST00000098686] [ENSMUST00000114165] [ENSMUST00000164010] [ENSMUST00000164035] [ENSMUST00000170477] [ENSMUST00000171444] [ENSMUST00000171949]

AlphaFold

Q9Z1N7

Predicted Effect

probably benign
Transcript: ENSMUST00000004780
AA Change: S445T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000004780
Gene: ENSMUSG00000004661
AA Change: S445T

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
AA Change: S445T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096283
Gene: ENSMUSG00000004661
AA Change: S445T

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

probably benign
Transcript: ENSMUST00000170477

Predicted Effect

probably benign
Transcript: ENSMUST00000171444
AA Change: S445T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130173
Gene: ENSMUSG00000004661
AA Change: S445T

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: ENSMUST00000171949
AA Change: S4T

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127525
Gene: ENSMUSG00000004661
AA Change: S4T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,680,811 (GRCm39)	S368T	probably damaging	Het
Acmsd	A	G	1: 127,657,172 (GRCm39)		probably benign	Het
Brinp1	A	G	4: 68,759,591 (GRCm39)	V91A	probably benign	Het
Ccne1	A	G	7: 37,805,702 (GRCm39)		probably null	Het
Col3a1	A	T	1: 45,366,973 (GRCm39)	I249F	unknown	Het
Crybg3	T	C	16: 59,377,688 (GRCm39)	I1189V	probably benign	Het
Cyp2d34	A	T	15: 82,500,964 (GRCm39)	D389E	probably benign	Het
D130043K22Rik	A	C	13: 25,077,360 (GRCm39)	I998L	probably damaging	Het
Dgkq	A	G	5: 108,803,056 (GRCm39)	I298T	possibly damaging	Het
Dnah17	T	C	11: 117,971,550 (GRCm39)	E2161G	probably damaging	Het
Dnajc25	T	C	4: 59,017,824 (GRCm39)		probably null	Het
Dpp9	G	A	17: 56,496,405 (GRCm39)	R768*	probably null	Het
Dusp6	T	A	10: 99,100,740 (GRCm39)	N245K	probably damaging	Het
Eea1	C	A	10: 95,831,493 (GRCm39)	H195N	probably benign	Het
Efhc1	A	G	1: 21,059,744 (GRCm39)	E598G	probably benign	Het
Epb41l1	T	C	2: 156,376,682 (GRCm39)	V809A	probably damaging	Het
Gas8	T	A	8: 124,245,690 (GRCm39)	M1K	probably null	Het
Gcm1	G	A	9: 77,971,961 (GRCm39)	V301I	probably benign	Het
Gm11554	T	A	11: 99,695,085 (GRCm39)	S43C	unknown	Het
Gm7298	A	G	6: 121,758,912 (GRCm39)	I1177V	probably benign	Het
Gm8011	A	G	14: 42,285,918 (GRCm39)	T27A		Het
Hmcn1	A	G	1: 150,522,421 (GRCm39)	I3493T	probably benign	Het
Insrr	T	G	3: 87,716,039 (GRCm39)	I578S	probably damaging	Het
Kif13b	A	G	14: 64,994,972 (GRCm39)	D908G	probably null	Het
Lhcgr	G	C	17: 89,079,474 (GRCm39)	Q71E	probably benign	Het
Lrrc34	T	C	3: 30,697,491 (GRCm39)	D80G	probably damaging	Het
Lrrc7	C	A	3: 157,997,595 (GRCm39)	E156*	probably null	Het
Lrrc9	A	G	12: 72,547,590 (GRCm39)	D1255G	probably damaging	Het
Mcidas	A	G	13: 113,133,416 (GRCm39)	N116D	probably benign	Het
Mmp7	A	G	9: 7,697,594 (GRCm39)	N210D	probably damaging	Het
Morc3	A	G	16: 93,671,748 (GRCm39)	D926G	probably damaging	Het
Mrgpra9	A	G	7: 46,885,385 (GRCm39)	I94T	possibly damaging	Het
Muc16	C	A	9: 18,549,038 (GRCm39)	V5752F	possibly damaging	Het
Myo16	A	T	8: 10,612,183 (GRCm39)	D1276V	unknown	Het
Nlrc4	T	G	17: 74,753,537 (GRCm39)	E282A	probably damaging	Het
Nos2	T	A	11: 78,827,297 (GRCm39)	Y227*	probably null	Het
Obox5	A	C	7: 15,492,713 (GRCm39)	M223L	probably benign	Het
Or10ak13	C	A	4: 118,638,896 (GRCm39)	L295F	possibly damaging	Het
Pygm	G	A	19: 6,435,966 (GRCm39)	R139H	probably damaging	Het
Ranbp2	C	A	10: 58,303,099 (GRCm39)	P789T	probably damaging	Het
Riok2	T	G	17: 17,607,501 (GRCm39)	S350A	probably benign	Het
Rnf214	C	T	9: 45,778,845 (GRCm39)	V445I	possibly damaging	Het
Skida1	C	T	2: 18,051,083 (GRCm39)	V603I	unknown	Het
Skint6	T	A	4: 112,755,335 (GRCm39)	R747S	probably benign	Het
Slc24a5	G	A	2: 124,927,694 (GRCm39)	W331*	probably null	Het
Slc5a10	A	T	11: 61,564,405 (GRCm39)	C525S	probably benign	Het
Styxl2	A	G	1: 165,928,044 (GRCm39)	S523P	probably damaging	Het
Sult2b1	T	C	7: 45,380,718 (GRCm39)	Y288C	probably damaging	Het
Tagln3	G	T	16: 45,543,440 (GRCm39)	N67K	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,162 (GRCm39)	H94L	probably benign	Het
Tshz2	A	G	2: 169,726,094 (GRCm39)	E230G	probably damaging	Het
Usb1	T	A	8: 96,071,931 (GRCm39)	H210Q	probably damaging	Het
Vill	C	T	9: 118,899,716 (GRCm39)	P767L	probably benign	Het
Vmn2r94	A	T	17: 18,477,603 (GRCm39)	N269K	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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'- TACTGCCACTAAGCCTGAGC -3'
(R):5'- AGAAGCTCAGTGTGTCTGC -3'

Sequencing Primer
(F):5'- CACTAAGCCTGAGCAGAGCTG -3'
(R):5'- CTCAGTGTGTCTGCCCAGGATG -3'

Posted On

2019-09-13