Mutagenetix > Incidental Mutation

Incidental Mutation 'R4183:Rb1'

319840

Institutional Source

Beutler Lab

Gene Symbol

Rb1

Ensembl Gene

ENSMUSG00000022105

Gene Name

RB transcriptional corepressor 1

Synonyms

Rb-1, Rb, pRb

MMRRC Submission

041019-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73183673-73325822 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 73198526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000171767]

AlphaFold

P13405

Predicted Effect

probably null
Transcript: ENSMUST00000022701

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	37	53	N/A	INTRINSIC
DUF3452	97	223	4.59e-25	SMART
RB_A	367	567	5.53e-92	SMART
CYCLIN	653	740	1.62e-5	SMART
Rb_C	761	920	1.28e-96	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168495

Predicted Effect

probably benign
Transcript: ENSMUST00000171767

SMART Domains

Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106

Domain	Start	End	E-Value	Type
Pfam:RCC1	117	167	1.7e-16	PFAM
Pfam:RCC1_2	154	183	4.9e-15	PFAM
Pfam:RCC1	170	220	8.4e-16	PFAM
Pfam:RCC1	223	272	5.5e-18	PFAM
Pfam:RCC1_2	259	288	1.7e-11	PFAM
Pfam:RCC1	275	324	6.8e-14	PFAM
BTB	394	487	2.69e-21	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	T	C	8: 122,899,676	I198V	possibly damaging	Het
Arhgap12	T	C	18: 6,111,734	D210G	probably damaging	Het
Arpc2	T	A	1: 74,248,163	N31K	probably damaging	Het
Atp11a	T	A	8: 12,816,990	V139D	possibly damaging	Het
Bicral	T	C	17: 46,814,029	K615E	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,036,306		probably benign	Het
Chrnb1	T	C	11: 69,787,096	M277V	possibly damaging	Het
Csmd1	C	T	8: 15,910,464	C3317Y	probably damaging	Het
Ddx1	A	T	12: 13,231,503	L353*	probably null	Het
Degs2	T	C	12: 108,692,099	K207R	probably damaging	Het
Fam167a	T	C	14: 63,452,320	V22A	probably benign	Het
Fam186a	G	A	15: 99,933,685		probably benign	Het
Gprc5b	T	C	7: 118,984,526	D40G	probably benign	Het
Grsf1	G	A	5: 88,664,156	P271S	probably benign	Het
Inpp5j	A	G	11: 3,501,134	I505T	probably damaging	Het
Lurap1l	G	A	4: 80,953,858	S196N	probably benign	Het
Mapk8	T	C	14: 33,382,220	D413G	probably damaging	Het
Mapkbp1	A	G	2: 120,017,865	D632G	probably damaging	Het
Mcidas	A	G	13: 112,994,372	D77G	probably damaging	Het
Mdga1	A	G	17: 29,969,990	V33A	unknown	Het
Me3	A	G	7: 89,851,830	D583G	probably benign	Het
Mndal	T	A	1: 173,875,771	T23S	possibly damaging	Het
Myh13	T	C	11: 67,349,610	M780T	possibly damaging	Het
Nat10	A	G	2: 103,739,813	L395P	probably damaging	Het
Naxd	T	C	8: 11,502,757	V59A	probably damaging	Het
Nbeal2	A	T	9: 110,636,675	V876E	probably benign	Het
Olfr1238	T	C	2: 89,406,591	T163A	probably benign	Het
Olfr150	A	G	9: 39,737,048	T78A	probably benign	Het
Olfr624	T	C	7: 103,670,971	Y20C	possibly damaging	Het
Olfr747	C	G	14: 50,681,050	E195Q	probably benign	Het
Olfr97	T	G	17: 37,231,848	H174P	possibly damaging	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Pcsk4	C	T	10: 80,325,011	R327Q	probably benign	Het
Pkhd1	C	T	1: 20,117,807	V3426I	probably benign	Het
Ranbp2	T	C	10: 58,465,666	F687L	possibly damaging	Het
Tfpi2	C	A	6: 3,963,926	V51L	probably damaging	Het
Tnn	T	C	1: 160,097,355	D1143G	probably damaging	Het
Ttn	A	G	2: 76,711,242	M25473T	probably benign	Het
Vmn1r201	A	G	13: 22,474,852	I79V	probably benign	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Wdr25	T	A	12: 109,027,331	F491Y	probably benign	Het
Zfp972	G	A	2: 177,921,457	Q56*	probably null	Het
Zfp982	A	G	4: 147,512,693	K169R	probably benign	Het

Other mutations in Rb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Rb1	APN	14	73264598	missense	probably damaging	1.00
IGL00951:Rb1	APN	14	73322072	missense	probably damaging	1.00
IGL01152:Rb1	APN	14	73205870	missense	probably damaging	1.00
IGL01339:Rb1	APN	14	73264371	critical splice acceptor site	probably null
IGL01349:Rb1	APN	14	73269118	missense	probably damaging	1.00
IGL01390:Rb1	APN	14	73294999	missense	probably benign	0.02
IGL02066:Rb1	APN	14	73198534	missense	probably benign	0.06
IGL02207:Rb1	APN	14	73206085	missense	probably damaging	1.00
IGL02860:Rb1	APN	14	73206012	missense	probably damaging	1.00
IGL03370:Rb1	APN	14	73282866	critical splice donor site	probably null
rubidium	UTSW	14	73199311	missense	probably damaging	1.00
P0028:Rb1	UTSW	14	73264628	missense	probably damaging	1.00
R0553:Rb1	UTSW	14	73211712	nonsense	probably null
R0563:Rb1	UTSW	14	73216767	missense	probably damaging	1.00
R0586:Rb1	UTSW	14	73287684	intron	probably benign
R0595:Rb1	UTSW	14	73273680	missense	probably damaging	1.00
R0755:Rb1	UTSW	14	73197213	makesense	probably null
R1480:Rb1	UTSW	14	73262602	missense	probably benign
R1513:Rb1	UTSW	14	73322084	missense	probably benign	0.00
R1752:Rb1	UTSW	14	73287624	missense	probably damaging	0.99
R1919:Rb1	UTSW	14	73212990	nonsense	probably null
R2010:Rb1	UTSW	14	73294993	missense	probably benign	0.16
R2087:Rb1	UTSW	14	73280252	missense	probably benign	0.09
R2152:Rb1	UTSW	14	73288725	missense	probably benign
R2167:Rb1	UTSW	14	73211651	missense	probably damaging	1.00
R3950:Rb1	UTSW	14	73262662	missense	probably damaging	1.00
R4225:Rb1	UTSW	14	73269191	missense	possibly damaging	0.58
R4306:Rb1	UTSW	14	73262695	missense	probably damaging	1.00
R4464:Rb1	UTSW	14	73199198	splice site	probably null
R4609:Rb1	UTSW	14	73262514	splice site	probably benign
R4671:Rb1	UTSW	14	73273676	missense	probably damaging	1.00
R4916:Rb1	UTSW	14	73216691	missense	probably damaging	1.00
R5160:Rb1	UTSW	14	73264455	synonymous	silent
R5210:Rb1	UTSW	14	73199311	missense	probably damaging	1.00
R5320:Rb1	UTSW	14	73213126	nonsense	probably null
R5436:Rb1	UTSW	14	73213140	splice site	probably null
R5467:Rb1	UTSW	14	73211620	missense	possibly damaging	0.92
R5592:Rb1	UTSW	14	73211747	missense	probably damaging	1.00
R6326:Rb1	UTSW	14	73198534	missense	probably benign	0.06
R6363:Rb1	UTSW	14	73287641	missense	probably benign	0.01
R6395:Rb1	UTSW	14	73199196	missense	probably damaging	1.00
R6414:Rb1	UTSW	14	73282974	missense	unknown
R6460:Rb1	UTSW	14	73278454	missense	probably benign	0.06
R6503:Rb1	UTSW	14	73205880	missense	probably benign	0.08
R6519:Rb1	UTSW	14	73298063	missense	probably benign	0.00
R6671:Rb1	UTSW	14	73197266	missense	probably damaging	1.00
R7026:Rb1	UTSW	14	73298099	missense	probably benign	0.00
R7103:Rb1	UTSW	14	73262644	missense	probably damaging	1.00
R7263:Rb1	UTSW	14	73282923	nonsense	probably null
R7478:Rb1	UTSW	14	73269137	missense	probably damaging	1.00
R7519:Rb1	UTSW	14	73264608	missense	probably damaging	1.00
R7817:Rb1	UTSW	14	73198543	missense	probably damaging	1.00
R8323:Rb1	UTSW	14	73265583	missense	probably benign	0.09
R8809:Rb1	UTSW	14	73265560	missense	probably damaging	1.00
R8813:Rb1	UTSW	14	73262587	missense	probably damaging	0.96
R8849:Rb1	UTSW	14	73197269	missense	probably damaging	1.00
R9272:Rb1	UTSW	14	73280162	missense	possibly damaging	0.85
R9482:Rb1	UTSW	14	73206053	missense	probably damaging	1.00
R9606:Rb1	UTSW	14	73280133	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACTTAGTCTACCAATGTGTGAGG -3'
(R):5'- CATGGACTTACACAGCTATTGATAC -3'

Sequencing Primer
(F):5'- GTCTACCAATGTGTGAGGTAAATTG -3'
(R):5'- TATGCTCTATAAAAACCAC -3'

Posted On

2015-06-10