Mutagenetix > Incidental Mutations

Incidental Mutation 'R4466:Arid4b'

330364

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

041723-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14063232-14199603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14132510 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 117 (S117C)

Ref Sequence

ENSEMBL: ENSMUSP00000118687 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039538
AA Change: S117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: S117C

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 damaging
Transcript: ENSMUST00000110533
AA Change: S117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: S117C

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 damaging
Transcript: ENSMUST00000110534
AA Change: S117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: S117C

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 damaging
Transcript: ENSMUST00000110536
AA Change: S117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: S117C

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 damaging
Transcript: ENSMUST00000129488
AA Change: S117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: S117C

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 damaging
Transcript: ENSMUST00000222928
AA Change: S117C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.2240

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,838,466		noncoding transcript	Het
Adgra1	T	A	7: 139,840,836		probably benign	Het
Akap13	T	A	7: 75,602,773		probably null	Het
Amn1	T	C	6: 149,166,845		probably null	Het
Ano5	T	A	7: 51,570,275	F374I	probably damaging	Het
Apol7c	T	C	15: 77,526,464	E94G	probably benign	Het
Atm	C	A	9: 53,448,169	E2778*	probably null	Het
Cped1	A	T	6: 22,123,652	Q468L	probably benign	Het
Crygb	A	G	1: 65,080,486	S112P	probably damaging	Het
Eml4	C	T	17: 83,421,674	Q93*	probably null	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam102b	T	A	3: 108,979,808	R291S	probably benign	Het
Fhad1	A	T	4: 141,957,658	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,323,653		probably null	Het
Gm5134	G	C	10: 76,008,575	K588N	probably benign	Het
Gpr21	A	G	2: 37,517,558	T39A	probably benign	Het
Irx1	C	A	13: 71,959,982	G194W	probably damaging	Het
Itgal	C	T	7: 127,328,512	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,106,342	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,320,300	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,957,268	D180G	probably damaging	Het
M6pr	A	G	6: 122,313,269	T64A	probably benign	Het
Mrpl47	G	A	3: 32,730,091	R177*	probably null	Het
Mtfr2	A	G	10: 20,348,413	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000	I31T	probably damaging	Het
Oas2	A	G	5: 120,749,602	S58P	probably damaging	Het
Olfr1489	G	A	19: 13,633,437	E109K	probably damaging	Het
Olfr339	A	T	2: 36,422,296	R299S	probably benign	Het
Olfr883	T	A	9: 38,026,183	C126S	probably damaging	Het
Polr1b	A	T	2: 129,123,882	I815L	probably benign	Het
Psma8	T	C	18: 14,721,174	I37T	possibly damaging	Het
Ryr3	T	C	2: 112,653,102	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,237,923		probably benign	Het
Serpina3m	A	T	12: 104,391,615	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,959,851	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,381,451	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,364,707	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,227,862		probably benign	Het
Smyd2	A	G	1: 189,882,152	M393T	probably benign	Het
Sox8	C	A	17: 25,568,905	G190V	probably benign	Het
Stag2	A	G	X: 42,233,872	S400G	probably benign	Het
Stk35	C	A	2: 129,801,516	T140K	probably damaging	Het
Taf6	A	C	5: 138,181,201		probably benign	Het
Ten1	A	C	11: 116,204,997		probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Ttn	A	G	2: 76,713,700	F32981L	probably damaging	Het
Zik1	G	T	7: 10,490,966	T68K	probably benign	Het
Zzef1	T	A	11: 72,924,659	I2935N	probably damaging	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
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
R4972:Arid4b	UTSW	13	14160272	missense	probably benign	0.07
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

Predicted Primers

PCR Primer
(F):5'- AACATGAAGTATGAACCGAATTCC -3'
(R):5'- CTGGATTGAAAGAGCAAAACCTCAC -3'

Sequencing Primer
(F):5'- ATTGGGACTATTTGCACTC -3'
(R):5'- TCTAATCCCAGTACTCAGGAGG -3'

Posted On

2015-07-21