Mutagenetix > Incidental Mutation

Incidental Mutation 'R1624:Arid4b'

174917

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

039661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14238334-14374188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14358979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 585 (S585P)

Ref Sequence

ENSEMBL: ENSMUSP00000106165 (fasta)

Gene Model

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

AlphaFold

A2CG63

Predicted Effect

probably damaging
Transcript: ENSMUST00000039538
AA Change: S585P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: S585P

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: ENSMUST00000110534
AA Change: S672P

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: S672P

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: S585P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: S585P

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

noncoding transcript
Transcript: ENSMUST00000148941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149579

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,472,496 (GRCm39)	Y68C	probably damaging	Het
6820408C15Rik	A	T	2: 152,276,031 (GRCm39)	H81L	probably damaging	Het
Acbd4	A	G	11: 102,994,785 (GRCm39)	T48A	probably damaging	Het
Acp3	T	A	9: 104,197,200 (GRCm39)	E146D	probably benign	Het
Acsm1	T	A	7: 119,251,796 (GRCm39)	I307N	probably damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agl	T	C	3: 116,580,895 (GRCm39)	T356A	probably benign	Het
Ago1	A	G	4: 126,357,534 (GRCm39)	I47T	probably damaging	Het
Akr1c6	T	A	13: 4,496,363 (GRCm39)	Y75N	probably benign	Het
Anxa2	T	A	9: 69,386,990 (GRCm39)	S92T	probably benign	Het
Arl4d	T	C	11: 101,557,842 (GRCm39)	S123P	possibly damaging	Het
Atad2	A	T	15: 57,963,415 (GRCm39)	D1067E	probably damaging	Het
Brap	C	A	5: 121,820,922 (GRCm39)	T403K	possibly damaging	Het
Brwd1	A	T	16: 95,809,344 (GRCm39)	N1895K	possibly damaging	Het
Ccdc187	T	C	2: 26,171,087 (GRCm39)	T464A	probably benign	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdh11	T	C	8: 103,391,233 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,725,163 (GRCm39)	Y691F	probably benign	Het
Clhc1	A	T	11: 29,519,287 (GRCm39)	I365F	possibly damaging	Het
Col11a1	A	G	3: 113,951,804 (GRCm39)	Q1078R	probably damaging	Het
Creb3	G	A	4: 43,566,375 (GRCm39)	V294I	possibly damaging	Het
Cspg4	T	C	9: 56,795,754 (GRCm39)	I1163T	probably damaging	Het
Cyp3a57	A	C	5: 145,327,225 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,618,918 (GRCm39)	I1661N	probably damaging	Het
Dpysl4	A	C	7: 138,669,469 (GRCm39)	D49A	probably damaging	Het
Efhb	T	A	17: 53,733,306 (GRCm39)	I522F	probably damaging	Het
Epha4	T	C	1: 77,376,329 (GRCm39)	T517A	probably damaging	Het
Fasn	A	G	11: 120,703,937 (GRCm39)	S1466P	probably damaging	Het
Fgd6	A	T	10: 93,973,298 (GRCm39)	D1253V	probably benign	Het
Fjx1	G	A	2: 102,281,509 (GRCm39)	A142V	probably benign	Het
Foxb1	T	C	9: 69,666,598 (GRCm39)	T311A	probably benign	Het
Fpgs	A	G	2: 32,581,200 (GRCm39)		probably null	Het
Gm10024	A	G	10: 77,547,606 (GRCm39)		probably null	Het
Gnat3	A	T	5: 18,208,841 (GRCm39)	T182S	possibly damaging	Het
Igsf3	T	A	3: 101,362,543 (GRCm39)	F875I	probably benign	Het
Kif13b	A	G	14: 64,976,068 (GRCm39)	E461G	probably damaging	Het
Kif23	A	T	9: 61,832,982 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,896,540 (GRCm39)	R134Q	possibly damaging	Het
Krt33a	A	T	11: 99,905,072 (GRCm39)	Y145N	probably damaging	Het
Lama5	A	G	2: 179,848,551 (GRCm39)	V313A	probably benign	Het
Lamb1	T	C	12: 31,328,651 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mtor	C	T	4: 148,632,133 (GRCm39)	L2336F	probably damaging	Het
Naglu	T	C	11: 100,967,351 (GRCm39)	S434P	probably damaging	Het
Ncoa7	T	A	10: 30,580,655 (GRCm39)	H101L	possibly damaging	Het
Nlrc4	G	A	17: 74,752,184 (GRCm39)	T733I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,573 (GRCm39)	E558G	probably damaging	Het
Nsun4	A	T	4: 115,891,397 (GRCm39)	N327K	probably benign	Het
Or11g27	A	G	14: 50,771,100 (GRCm39)	Y77C	probably damaging	Het
Or1x2	T	C	11: 50,917,952 (GRCm39)	V41A	probably damaging	Het
Or2m13	T	A	16: 19,226,454 (GRCm39)	Y104F	probably benign	Het
Or4f6	T	A	2: 111,838,877 (GRCm39)	Y218F	probably damaging	Het
Or6b13	T	C	7: 139,781,864 (GRCm39)	N273S	probably damaging	Het
Pdia2	T	A	17: 26,415,495 (GRCm39)	I441F	probably damaging	Het
Phyh	T	C	2: 4,930,494 (GRCm39)	S74P	probably benign	Het
Pigo	A	G	4: 43,024,661 (GRCm39)	L146P	probably damaging	Het
Plce1	A	G	19: 38,713,219 (GRCm39)	D1191G	probably damaging	Het
Plrg1	T	C	3: 82,975,301 (GRCm39)		probably benign	Het
Plrg1	G	A	3: 82,977,051 (GRCm39)	R364Q	probably damaging	Het
Polr3b	T	C	10: 84,515,669 (GRCm39)	L614S	probably damaging	Het
Pramel16	A	T	4: 143,676,400 (GRCm39)	C235S	possibly damaging	Het
Prrg4	A	G	2: 104,663,027 (GRCm39)	V193A	probably damaging	Het
Prss16	T	A	13: 22,187,483 (GRCm39)	E47V	probably benign	Het
Ptpru	G	A	4: 131,499,861 (GRCm39)	T1261I	probably damaging	Het
Pycard	A	G	7: 127,591,970 (GRCm39)	S124P	possibly damaging	Het
Riok1	C	A	13: 38,221,487 (GRCm39)	D17E	probably damaging	Het
Scin	T	A	12: 40,177,929 (GRCm39)	Y102F	probably benign	Het
Scmh1	A	G	4: 120,386,425 (GRCm39)	H655R	probably damaging	Het
Scyl2	A	T	10: 89,476,598 (GRCm39)	N842K	probably benign	Het
Sec23b	T	A	2: 144,409,049 (GRCm39)	M211K	probably benign	Het
Serpina3i	A	C	12: 104,234,897 (GRCm39)	*409C	probably null	Het
Sgk2	G	A	2: 162,839,779 (GRCm39)	R129H	probably benign	Het
Slc39a13	A	G	2: 90,898,871 (GRCm39)	I80T	probably damaging	Het
Smarcad1	A	G	6: 65,029,631 (GRCm39)	D73G	probably benign	Het
Spata18	A	C	5: 73,826,888 (GRCm39)	T276P	probably damaging	Het
Srgap1	T	G	10: 121,691,278 (GRCm39)	M319L	probably benign	Het
Stx7	T	A	10: 24,060,903 (GRCm39)	V210E	probably damaging	Het
Tjp2	T	A	19: 24,108,776 (GRCm39)	H112L	probably benign	Het
Tuba8	A	T	6: 121,197,385 (GRCm39)	I16F	probably damaging	Het
Ube3c	G	A	5: 29,851,617 (GRCm39)	A815T	probably benign	Het
Vmn2r5	A	T	3: 64,417,116 (GRCm39)	V14E	probably benign	Het
Vmn2r79	A	T	7: 86,653,247 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,343,018 (GRCm39)	T466A	possibly 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
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
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'- TGCTGGTCTTATTCACTGTCAGATTTCATAC -3'
(R):5'- GGGGACGGAAGGAGCAAGAATACAT -3'

Sequencing Primer
(F):5'- agaagagggagtgggtgg -3'
(R):5'- ttagcctcaactctcaagcc -3'

Posted On

2014-04-24