Mutagenetix > Incidental Mutations

Incidental Mutation 'R4972:Arid4b'

444548

Institutional Source

Beutler Lab

Gene Symbol

Arid4b

Ensembl Gene

ENSMUSG00000039219

Gene Name

AT rich interactive domain 4B (RBP1-like)

Synonyms

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

MMRRC Submission

042567-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14063232-14199603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14160272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 355 (N355K)

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: N355K

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

Meta Mutation Damage Score

0.2289

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770	F389L	probably damaging	Het
Dgkz	C	T	2: 91,945,702	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256		probably benign	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350		probably null	Het
Zscan20	G	A	4: 128,592,359	P183S	probably benign	Het

Other mutations in Arid4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Arid4b	APN	13	14191134	unclassified	probably benign
IGL00581:Arid4b	APN	13	14160195	missense	probably damaging	1.00
IGL00808:Arid4b	APN	13	14136261	critical splice donor site	probably null
IGL01150:Arid4b	APN	13	14195374	nonsense	probably null
IGL01570:Arid4b	APN	13	14186809	unclassified	probably benign
IGL01942:Arid4b	APN	13	14136164	intron	probably benign
IGL02031:Arid4b	APN	13	14153412	splice site	probably benign
IGL02183:Arid4b	APN	13	14169990	missense	possibly damaging	0.68
R0096:Arid4b	UTSW	13	14129194	missense	probably benign	0.08
R0096:Arid4b	UTSW	13	14129194	missense	probably benign	0.08
R0514:Arid4b	UTSW	13	14184317	missense	probably damaging	1.00
R0694:Arid4b	UTSW	13	14187834	missense	probably damaging	0.96
R0746:Arid4b	UTSW	13	14143038	missense	probably benign	0.01
R1624:Arid4b	UTSW	13	14184394	missense	probably damaging	0.99
R1625:Arid4b	UTSW	13	14187114	missense	probably damaging	0.99
R1812:Arid4b	UTSW	13	14195429	missense	probably damaging	1.00
R1891:Arid4b	UTSW	13	14136236	missense	possibly damaging	0.94
R1990:Arid4b	UTSW	13	14132436	missense	probably damaging	0.99
R2051:Arid4b	UTSW	13	14187645	missense	probably damaging	0.98
R2060:Arid4b	UTSW	13	14195452	missense	probably damaging	1.00
R2344:Arid4b	UTSW	13	14153490	missense	probably benign	0.26
R3605:Arid4b	UTSW	13	14120241	missense	probably damaging	1.00
R3606:Arid4b	UTSW	13	14120241	missense	probably damaging	1.00
R3844:Arid4b	UTSW	13	14187060	missense	probably damaging	0.99
R3909:Arid4b	UTSW	13	14132484	missense	probably damaging	1.00
R3938:Arid4b	UTSW	13	14186928	missense	probably benign	0.34
R4394:Arid4b	UTSW	13	14154972	splice site	probably null
R4466:Arid4b	UTSW	13	14132510	missense	probably damaging	1.00
R4530:Arid4b	UTSW	13	14126455	missense	probably damaging	0.98
R4537:Arid4b	UTSW	13	14120161	nonsense	probably null
R4829:Arid4b	UTSW	13	14184438	missense	probably benign	0.23
R4930:Arid4b	UTSW	13	14187477	missense	probably damaging	0.99
R5119:Arid4b	UTSW	13	14164281	missense	probably benign	0.15
R5236:Arid4b	UTSW	13	14126449	critical splice acceptor site	probably null
R5304:Arid4b	UTSW	13	14186929	missense	probably benign	0.34
R5439:Arid4b	UTSW	13	14187696	missense	probably damaging	0.99
R5734:Arid4b	UTSW	13	14160271	missense	probably benign	0.09
R5950:Arid4b	UTSW	13	14191264	splice site	probably benign
R5951:Arid4b	UTSW	13	14143063	missense	possibly damaging	0.80
R6645:Arid4b	UTSW	13	14120152	missense	probably damaging	1.00
R6765:Arid4b	UTSW	13	14187315	missense	possibly damaging	0.84
R6804:Arid4b	UTSW	13	14129207	missense	probably benign	0.44
R7342:Arid4b	UTSW	13	14136219	missense	probably benign	0.03
R7354:Arid4b	UTSW	13	14164870	missense	probably benign	0.19
R7426:Arid4b	UTSW	13	14181306	critical splice donor site	probably null
R7863:Arid4b	UTSW	13	14164149	missense	probably benign	0.01
R8070:Arid4b	UTSW	13	14136259	missense	probably benign	0.32
R8076:Arid4b	UTSW	13	14186950	missense	probably benign	0.01
R8239:Arid4b	UTSW	13	14170009	missense	probably benign
R8303:Arid4b	UTSW	13	14120223	missense	probably damaging	1.00
R9047:Arid4b	UTSW	13	14181230	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCCACGGGTTTAGATAAG -3'
(R):5'- CTGTTTCATTCTGACAGAGGAAATGAC -3'

Sequencing Primer
(F):5'- CACGGGTTTAGATAAGAAAGTGTTTG -3'
(R):5'- TTCTGACAGAGGAAATGACAAAGTG -3'

Posted On

2016-11-15