Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Arid4b'

211528

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

039911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14238334-14374188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14310821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 141 (N141K)

Ref Sequence

ENSEMBL: ENSMUSP00000106162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110533] [ENSMUST00000110534] [ENSMUST00000110536] [ENSMUST00000129488] [ENSMUST00000222928]

AlphaFold

A2CG63

Predicted Effect

probably benign
Transcript: ENSMUST00000039538
AA Change: N141K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: N141K

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

possibly damaging
Transcript: ENSMUST00000110533
AA Change: N141K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: N141K

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: N141K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: N141K

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: N141K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: N141K

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: N141K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: N141K

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: ENSMUST00000222346

Predicted Effect

probably benign
Transcript: ENSMUST00000222928

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,840,874 (GRCm39)	I921T	possibly damaging	Het
Abca8a	T	C	11: 109,982,433 (GRCm39)	K3R	probably benign	Het
Adgrl3	A	T	5: 81,659,891 (GRCm39)	D152V	probably damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,626,009 (GRCm39)	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,479,342 (GRCm39)		probably benign	Het
Cacna1c	C	A	6: 118,753,480 (GRCm39)	D219Y	probably damaging	Het
Ccdc113	A	G	8: 96,267,544 (GRCm39)	K170E	probably damaging	Het
Ceacam9	A	G	7: 16,457,880 (GRCm39)	E136G	probably damaging	Het
Cfap43	A	G	19: 47,802,380 (GRCm39)	L333P	probably damaging	Het
Chl1	A	G	6: 103,691,544 (GRCm39)	D1062G	possibly damaging	Het
Cimip4	T	A	15: 78,262,952 (GRCm39)	D234V	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clpp	T	A	17: 57,298,307 (GRCm39)	V91E	probably damaging	Het
Cndp1	A	T	18: 84,637,758 (GRCm39)	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446 (GRCm39)	N169S	probably benign	Het
Cog6	A	C	3: 52,890,601 (GRCm39)	I613R	probably benign	Het
Creb3l1	A	G	2: 91,817,385 (GRCm39)	L376P	probably damaging	Het
Cry2	A	T	2: 92,243,985 (GRCm39)	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,992,318 (GRCm39)	M240V	possibly damaging	Het
Defa28	G	A	8: 22,073,801 (GRCm39)	C68Y	probably damaging	Het
Ecd	A	G	14: 20,388,227 (GRCm39)	I187T	probably damaging	Het
Erg28	A	G	12: 85,862,962 (GRCm39)	S117P	probably benign	Het
Ergic2	A	T	6: 148,084,577 (GRCm39)	C319S	probably damaging	Het
Ess2	C	T	16: 17,725,644 (GRCm39)	W183*	probably null	Het
Evc2	A	C	5: 37,549,423 (GRCm39)	D773A	probably damaging	Het
Fam151b	T	A	13: 92,586,678 (GRCm39)	T252S	probably benign	Het
Fbxo28	A	T	1: 182,145,389 (GRCm39)	M233K	probably benign	Het
Fbxw26	T	G	9: 109,551,232 (GRCm39)	D355A	probably benign	Het
Gm4884	G	C	7: 40,692,539 (GRCm39)	E169D	possibly damaging	Het
Hk2	C	T	6: 82,726,264 (GRCm39)	R94Q	probably benign	Het
Hps4	G	A	5: 112,517,422 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,292,801 (GRCm39)	D4126E	probably damaging	Het
Kif13a	T	C	13: 47,082,695 (GRCm39)	E48G	possibly damaging	Het
Krt31	T	A	11: 99,938,634 (GRCm39)	N320Y	probably damaging	Het
Lca5	T	C	9: 83,277,661 (GRCm39)	Y561C	probably damaging	Het
Lrrk1	G	A	7: 65,929,048 (GRCm39)	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,293,269 (GRCm39)	Y25*	probably null	Het
Map3k13	T	G	16: 21,729,836 (GRCm39)	M489R	probably damaging	Het
Mcm6	C	T	1: 128,263,547 (GRCm39)	R658H	probably damaging	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mitf	A	G	6: 97,918,237 (GRCm39)	T94A	probably benign	Het
Mpo	T	A	11: 87,692,106 (GRCm39)	L513*	probably null	Het
Mst1r	T	A	9: 107,790,661 (GRCm39)	N722K	probably damaging	Het
Mthfd1l	T	A	10: 3,982,284 (GRCm39)	L497*	probably null	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Naip2	C	T	13: 100,291,395 (GRCm39)	R1181K	probably benign	Het
Nbas	T	C	12: 13,440,973 (GRCm39)	M1101T	possibly damaging	Het
Odad3	G	T	9: 21,906,677 (GRCm39)		probably null	Het
Or2y1b	T	C	11: 49,208,684 (GRCm39)	F104L	probably benign	Het
Or4f60	A	T	2: 111,902,739 (GRCm39)	L63Q	probably damaging	Het
Or52l1	A	T	7: 104,829,754 (GRCm39)	Y270*	probably null	Het
Or5ae1	T	A	7: 84,565,461 (GRCm39)	V158D	possibly damaging	Het
Or6c33	T	C	10: 129,853,439 (GRCm39)	S70P	probably damaging	Het
Or7a40	T	A	16: 16,491,441 (GRCm39)	I135F	probably damaging	Het
Or7g20	T	C	9: 18,947,274 (GRCm39)	L285S	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,010,938 (GRCm39)	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859 (GRCm39)	V129E	probably damaging	Het
Pax7	G	A	4: 139,511,937 (GRCm39)	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,878,217 (GRCm39)	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,652,357 (GRCm39)	V275A	probably damaging	Het
Pkp3	C	T	7: 140,663,969 (GRCm39)		probably null	Het
Plekhb1	A	G	7: 100,304,599 (GRCm39)	L35P	probably damaging	Het
Pole	T	A	5: 110,480,408 (GRCm39)	F1993Y	probably damaging	Het
Pramel28	A	T	4: 143,693,235 (GRCm39)	V81E	probably damaging	Het
Prdx1	T	C	4: 116,556,451 (GRCm39)	*200R	probably null	Het
Prkdc	C	A	16: 15,543,300 (GRCm39)	T1777N	probably benign	Het
Prss59	A	T	6: 40,902,967 (GRCm39)	M135K	possibly damaging	Het
Ptpn14	G	A	1: 189,530,850 (GRCm39)	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,222,868 (GRCm39)	E63G	possibly damaging	Het
Qser1	A	C	2: 104,620,444 (GRCm39)	S123A	probably benign	Het
Rbm11	A	G	16: 75,397,675 (GRCm39)	N202D	possibly damaging	Het
Robo3	T	A	9: 37,339,351 (GRCm39)	Y212F	probably damaging	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Serpinb1c	T	A	13: 33,068,235 (GRCm39)	D179V	probably benign	Het
Skint6	T	C	4: 112,703,893 (GRCm39)	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,381,904 (GRCm39)	S46P	probably damaging	Het
St8sia4	T	C	1: 95,519,433 (GRCm39)	T352A	possibly damaging	Het
Stab1	C	A	14: 30,863,287 (GRCm39)	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,509,060 (GRCm39)	C730R	probably benign	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tle4	A	T	19: 14,522,150 (GRCm39)		probably null	Het
Tmem200a	T	A	10: 25,869,970 (GRCm39)	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,768,597 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Urgcp	T	C	11: 5,666,910 (GRCm39)	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,659,425 (GRCm39)	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,221,938 (GRCm39)	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,454 (GRCm39)	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,206,200 (GRCm39)	E1865*	probably null	Het
Zc3h3	A	C	15: 75,628,780 (GRCm39)	M838R	possibly damaging	Het
Zfp959	T	A	17: 56,204,604 (GRCm39)	C211S	probably damaging	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
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
R5119:Arid4b	UTSW	13	14,338,866 (GRCm39)	missense	probably benign	0.15
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

PCR Primer
(F):5'- AAAGTTGTATTGTAGCCTTCCTTGG -3'
(R):5'- ATCTATGAAGGAGCCCTGGAG -3'

Sequencing Primer
(F):5'- GAAGAAAGCACTTGCAAAGT -3'
(R):5'- CTGGAGGAAGCCACAGC -3'

Posted On

2014-06-30