Mutagenetix > Incidental Mutation

Incidental Mutation 'R5119:Arid4b'

392855

Institutional Source

Beutler Lab

Gene Symbol

Arid4b

Ensembl Gene

ENSMUSG00000039219

Gene Name

AT-rich interaction domain 4B

Synonyms

6330417L24Rik, Rbp1l1, 6720480E17Rik, BRCAA1, SAP180, RBBP1L1

MMRRC Submission

042707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14238334-14374188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14338866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 446 (V446M)

Ref Sequence

ENSEMBL: ENSMUSP00000106162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110533] [ENSMUST00000110534] [ENSMUST00000110536] [ENSMUST00000129488]

AlphaFold

A2CG63

Predicted Effect

probably benign
Transcript: ENSMUST00000039538
AA Change: V446M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: V446M

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	3.4e-46	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
low complexity region	543	562	N/A	INTRINSIC
low complexity region	621	635	N/A	INTRINSIC
low complexity region	704	713	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	769	785	N/A	INTRINSIC
low complexity region	937	949	N/A	INTRINSIC
low complexity region	954	964	N/A	INTRINSIC
low complexity region	1002	1016	N/A	INTRINSIC
low complexity region	1054	1068	N/A	INTRINSIC
coiled coil region	1145	1182	N/A	INTRINSIC
low complexity region	1186	1204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110533
AA Change: V446M

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: V446M

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	9.5e-48	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110534
AA Change: V446M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: V446M

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	168	263	4.1e-39	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
TUDOR	567	632	1.91e1	SMART
CHROMO	585	640	1.29e-1	SMART
low complexity region	708	722	N/A	INTRINSIC
low complexity region	791	800	N/A	INTRINSIC
low complexity region	802	815	N/A	INTRINSIC
low complexity region	856	872	N/A	INTRINSIC
low complexity region	1024	1036	N/A	INTRINSIC
low complexity region	1041	1051	N/A	INTRINSIC
low complexity region	1089	1103	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
coiled coil region	1232	1269	N/A	INTRINSIC
low complexity region	1273	1291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110536
AA Change: V446M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: V446M

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	3.4e-46	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
low complexity region	543	562	N/A	INTRINSIC
low complexity region	621	635	N/A	INTRINSIC
low complexity region	704	713	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	769	785	N/A	INTRINSIC
low complexity region	937	949	N/A	INTRINSIC
low complexity region	954	964	N/A	INTRINSIC
low complexity region	1002	1016	N/A	INTRINSIC
low complexity region	1054	1068	N/A	INTRINSIC
coiled coil region	1145	1182	N/A	INTRINSIC
low complexity region	1186	1204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129488
AA Change: V446M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: V446M

Domain	Start	End	E-Value	Type
TUDOR	58	114	4.13e-9	SMART
low complexity region	151	165	N/A	INTRINSIC
Pfam:RBB1NT	166	264	1.8e-46	PFAM
ARID	303	394	3.81e-34	SMART
BRIGHT	307	399	4.99e-36	SMART
low complexity region	421	441	N/A	INTRINSIC
low complexity region	533	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149579

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (127/127)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die pre-implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	C	A	2: 170,421,505 (GRCm39)	G125V	unknown	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts5	T	A	16: 85,696,466 (GRCm39)	R230S	probably benign	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Adgrv1	T	C	13: 81,567,546 (GRCm39)	Y5209C	possibly damaging	Het
Ahnak	G	T	19: 8,991,008 (GRCm39)	M4097I	probably benign	Het
Akap13	A	G	7: 75,337,000 (GRCm39)	T820A	probably damaging	Het
Als2cl	C	T	9: 110,719,887 (GRCm39)	R492C	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Armc2	A	G	10: 41,798,144 (GRCm39)	L794P	probably damaging	Het
Atp6v0a1	T	A	11: 100,911,341 (GRCm39)	M80K	probably benign	Het
Aup1	T	C	6: 83,032,115 (GRCm39)	V94A	probably damaging	Het
Bank1	A	T	3: 135,940,443 (GRCm39)	I180K	possibly damaging	Het
Becn1	A	G	11: 101,182,221 (GRCm39)	L116P	probably damaging	Het
Bsg	A	G	10: 79,546,057 (GRCm39)		probably benign	Het
Camk2a	A	T	18: 61,076,208 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,914,603 (GRCm39)	E706G	possibly damaging	Het
Cdk8	A	T	5: 146,220,437 (GRCm39)		probably null	Het
Cpne4	A	G	9: 104,778,720 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cyp2c38	C	A	19: 39,449,065 (GRCm39)	G96V	probably damaging	Het
Dhx40	A	G	11: 86,667,462 (GRCm39)	I261T	probably damaging	Het
Dnah10	T	C	5: 124,856,322 (GRCm39)	F2038L	probably damaging	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Dtl	G	T	1: 191,273,618 (GRCm39)	A430D	probably damaging	Het
Ece2	T	C	16: 20,437,381 (GRCm39)	L241P	probably damaging	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Eppin	T	C	2: 164,431,371 (GRCm39)	Y85C	probably damaging	Het
Fam171a2	G	A	11: 102,329,559 (GRCm39)	A400V	probably damaging	Het
Fem1c	A	C	18: 46,639,436 (GRCm39)	C189G	probably damaging	Het
Frmd4b	A	G	6: 97,277,275 (GRCm39)	V560A	probably benign	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Gabbr1	T	C	17: 37,359,330 (GRCm39)	S102P	probably damaging	Het
Garin3	G	A	11: 46,297,863 (GRCm39)	G389D	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Gm30275	T	C	14: 54,312,978 (GRCm39)		probably benign	Het
Gm9762	A	T	3: 78,873,707 (GRCm39)		noncoding transcript	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Gps2	A	G	11: 69,805,617 (GRCm39)	K45R	probably benign	Het
Gramd2a	A	G	9: 59,621,603 (GRCm39)		probably benign	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Ifi204	A	T	1: 173,583,234 (GRCm39)	I328N	probably damaging	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,442,949 (GRCm39)	I15T	probably benign	Het
Il23r	A	T	6: 67,443,300 (GRCm39)	C268S	probably damaging	Het
Irx4	A	G	13: 73,417,040 (GRCm39)	T479A	probably benign	Het
Kcnk7	G	A	19: 5,756,352 (GRCm39)	V193I	probably benign	Het
Kcnt1	G	T	2: 25,799,334 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 64,994,902 (GRCm39)	C885G	probably benign	Het
Kif21b	C	A	1: 136,090,838 (GRCm39)	D1215E	probably benign	Het
Klhdc2	A	G	12: 69,343,736 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,924,050 (GRCm39)	N486S	probably benign	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrps28	C	T	3: 8,988,756 (GRCm39)	G34D	possibly damaging	Het
Myh8	A	G	11: 67,189,184 (GRCm39)	E1120G	probably damaging	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Nlgn1	A	T	3: 25,487,958 (GRCm39)	D763E	probably damaging	Het
Or11g26	T	C	14: 50,752,966 (GRCm39)	F102L	probably benign	Het
Or13c7c	G	T	4: 43,836,433 (GRCm39)	A19D	probably benign	Het
Or1e17	A	T	11: 73,831,378 (GRCm39)	Y102F	possibly damaging	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or5b118	C	T	19: 13,448,910 (GRCm39)	T192I	probably benign	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcbp1	G	A	6: 86,501,897 (GRCm39)	A334V	probably damaging	Het
Pclaf	T	C	9: 65,798,062 (GRCm39)	V32A	probably benign	Het
Pga5	T	A	19: 10,654,053 (GRCm39)	H50L	probably benign	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Pik3ap1	C	T	19: 41,270,415 (GRCm39)	R758H	probably benign	Het
Plekha1	A	G	7: 130,507,094 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,278,141 (GRCm39)	N318K	possibly damaging	Het
Ppargc1b	G	A	18: 61,440,725 (GRCm39)	A731V	probably benign	Het
Pptc7	T	C	5: 122,451,844 (GRCm39)	V100A	possibly damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Prrc2c	T	C	1: 162,533,009 (GRCm39)		probably benign	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Ptpn3	A	G	4: 57,218,513 (GRCm39)	F650S	possibly damaging	Het
Ranbp17	A	T	11: 33,354,181 (GRCm39)	*577R	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Rgl2	T	A	17: 34,156,094 (GRCm39)	H727Q	probably benign	Het
Rhpn2	A	G	7: 35,070,549 (GRCm39)	T160A	probably damaging	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rxrb	T	C	17: 34,252,562 (GRCm39)	S50P	probably benign	Het
Scn4b	A	T	9: 45,059,056 (GRCm39)	E109V	probably damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Slc22a29	A	T	19: 8,195,194 (GRCm39)	V147D	probably damaging	Het
Slc4a4	A	T	5: 89,102,721 (GRCm39)	E53V	probably null	Het
Slx4	A	G	16: 3,819,063 (GRCm39)	S37P	possibly damaging	Het
Spag9	G	A	11: 94,013,548 (GRCm39)	G1127D	probably damaging	Het
Srek1	T	A	13: 103,889,064 (GRCm39)		probably benign	Het
Supt5	G	T	7: 28,015,795 (GRCm39)	P849Q	probably damaging	Het
Tex14	T	C	11: 87,324,639 (GRCm39)	S2P	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tll2	A	G	19: 41,118,948 (GRCm39)	V260A	possibly damaging	Het
Tlr6	A	G	5: 65,111,644 (GRCm39)	V421A	probably benign	Het
Tmc3	T	G	7: 83,264,218 (GRCm39)	C649G	probably damaging	Het
Tnn	A	G	1: 159,948,122 (GRCm39)	W864R	probably damaging	Het
Tsc2	A	C	17: 24,822,254 (GRCm39)	V1095G	probably benign	Het
Vmn1r124	C	T	7: 20,994,172 (GRCm39)	G124D	probably damaging	Het
Vmn2r116	T	C	17: 23,606,138 (GRCm39)	V350A	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wrap53	T	A	11: 69,454,758 (GRCm39)	M204L	possibly damaging	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het
Zfp687	A	T	3: 94,918,987 (GRCm39)	S262T	probably benign	Het
Zfp831	T	A	2: 174,547,103 (GRCm39)	S1429T	probably benign	Het
Znfx1	G	A	2: 166,907,307 (GRCm39)		probably benign	Het

Other mutations in Arid4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Arid4b	APN	13	14,365,719 (GRCm39)	unclassified	probably benign
IGL00581:Arid4b	APN	13	14,334,780 (GRCm39)	missense	probably damaging	1.00
IGL00808:Arid4b	APN	13	14,310,846 (GRCm39)	critical splice donor site	probably null
IGL01150:Arid4b	APN	13	14,369,959 (GRCm39)	nonsense	probably null
IGL01570:Arid4b	APN	13	14,361,394 (GRCm39)	unclassified	probably benign
IGL01942:Arid4b	APN	13	14,310,749 (GRCm39)	intron	probably benign
IGL02031:Arid4b	APN	13	14,327,997 (GRCm39)	splice site	probably benign
IGL02183:Arid4b	APN	13	14,344,575 (GRCm39)	missense	possibly damaging	0.68
R0096:Arid4b	UTSW	13	14,303,779 (GRCm39)	missense	probably benign	0.08
R0096:Arid4b	UTSW	13	14,303,779 (GRCm39)	missense	probably benign	0.08
R0514:Arid4b	UTSW	13	14,358,902 (GRCm39)	missense	probably damaging	1.00
R0694:Arid4b	UTSW	13	14,362,419 (GRCm39)	missense	probably damaging	0.96
R0746:Arid4b	UTSW	13	14,317,623 (GRCm39)	missense	probably benign	0.01
R1624:Arid4b	UTSW	13	14,358,979 (GRCm39)	missense	probably damaging	0.99
R1625:Arid4b	UTSW	13	14,361,699 (GRCm39)	missense	probably damaging	0.99
R1812:Arid4b	UTSW	13	14,370,014 (GRCm39)	missense	probably damaging	1.00
R1891:Arid4b	UTSW	13	14,310,821 (GRCm39)	missense	possibly damaging	0.94
R1990:Arid4b	UTSW	13	14,307,021 (GRCm39)	missense	probably damaging	0.99
R2051:Arid4b	UTSW	13	14,362,230 (GRCm39)	missense	probably damaging	0.98
R2060:Arid4b	UTSW	13	14,370,037 (GRCm39)	missense	probably damaging	1.00
R2344:Arid4b	UTSW	13	14,328,075 (GRCm39)	missense	probably benign	0.26
R3605:Arid4b	UTSW	13	14,294,826 (GRCm39)	missense	probably damaging	1.00
R3606:Arid4b	UTSW	13	14,294,826 (GRCm39)	missense	probably damaging	1.00
R3844:Arid4b	UTSW	13	14,361,645 (GRCm39)	missense	probably damaging	0.99
R3909:Arid4b	UTSW	13	14,307,069 (GRCm39)	missense	probably damaging	1.00
R3938:Arid4b	UTSW	13	14,361,513 (GRCm39)	missense	probably benign	0.34
R4394:Arid4b	UTSW	13	14,329,557 (GRCm39)	splice site	probably null
R4466:Arid4b	UTSW	13	14,307,095 (GRCm39)	missense	probably damaging	1.00
R4530:Arid4b	UTSW	13	14,301,040 (GRCm39)	missense	probably damaging	0.98
R4537:Arid4b	UTSW	13	14,294,746 (GRCm39)	nonsense	probably null
R4829:Arid4b	UTSW	13	14,359,023 (GRCm39)	missense	probably benign	0.23
R4930:Arid4b	UTSW	13	14,362,062 (GRCm39)	missense	probably damaging	0.99
R4972:Arid4b	UTSW	13	14,334,857 (GRCm39)	missense	probably benign	0.07
R5236:Arid4b	UTSW	13	14,301,034 (GRCm39)	critical splice acceptor site	probably null
R5304:Arid4b	UTSW	13	14,361,514 (GRCm39)	missense	probably benign	0.34
R5439:Arid4b	UTSW	13	14,362,281 (GRCm39)	missense	probably damaging	0.99
R5734:Arid4b	UTSW	13	14,334,856 (GRCm39)	missense	probably benign	0.09
R5950:Arid4b	UTSW	13	14,365,849 (GRCm39)	splice site	probably benign
R5951:Arid4b	UTSW	13	14,317,648 (GRCm39)	missense	possibly damaging	0.80
R6645:Arid4b	UTSW	13	14,294,737 (GRCm39)	missense	probably damaging	1.00
R6765:Arid4b	UTSW	13	14,361,900 (GRCm39)	missense	possibly damaging	0.84
R6804:Arid4b	UTSW	13	14,303,792 (GRCm39)	missense	probably benign	0.44
R7342:Arid4b	UTSW	13	14,310,804 (GRCm39)	missense	probably benign	0.03
R7354:Arid4b	UTSW	13	14,339,455 (GRCm39)	missense	probably benign	0.19
R7426:Arid4b	UTSW	13	14,355,891 (GRCm39)	critical splice donor site	probably null
R7863:Arid4b	UTSW	13	14,338,734 (GRCm39)	missense	probably benign	0.01
R8070:Arid4b	UTSW	13	14,310,844 (GRCm39)	missense	probably benign	0.32
R8076:Arid4b	UTSW	13	14,361,535 (GRCm39)	missense	probably benign	0.01
R8239:Arid4b	UTSW	13	14,344,594 (GRCm39)	missense	probably benign
R8303:Arid4b	UTSW	13	14,294,808 (GRCm39)	missense	probably damaging	1.00
R9047:Arid4b	UTSW	13	14,355,815 (GRCm39)	missense	probably damaging	1.00
R9799:Arid4b	UTSW	13	14,358,967 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2016-06-15