Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03370:Rb1'

420274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rb1

Ensembl Gene

ENSMUSG00000022105

Gene Name

RB transcriptional corepressor 1

Synonyms

Rb-1, Rb, pRb

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

73183673-73325822 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 73282866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000164624]

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

probably benign
Transcript: ENSMUST00000164624

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	G	4: 56,741,173	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,939,055	I296T	probably damaging	Het
Col14a1	A	G	15: 55,488,541		probably null	Het
Daam2	G	T	17: 49,486,501	D329E	probably benign	Het
Defb26	A	G	2: 152,507,982	V126A	probably benign	Het
Fasn	A	T	11: 120,812,795	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,555,151	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,746,019	I13L	probably damaging	Het
Fggy	A	T	4: 95,822,064	H300L	probably damaging	Het
Fndc3c1	G	A	X: 106,420,701	T1277I	probably benign	Het
Gigyf1	G	T	5: 137,525,690	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,915,381	R567H	probably benign	Het
Kpna6	G	A	4: 129,655,521	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,497,673	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,695,490	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,487,385	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,864,777	R3820L	probably benign	Het
Mus81	A	G	19: 5,484,963		probably benign	Het
Nup188	A	G	2: 30,340,641	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,165,228	V29D	probably damaging	Het
Plch2	T	C	4: 154,986,914	S244G	probably benign	Het
Rapgef5	C	A	12: 117,730,559	T372K	probably damaging	Het
Ryr3	A	T	2: 112,756,599	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 81,011,654		probably null	Het
Slc38a1	C	T	15: 96,579,347	V362I	possibly damaging	Het
Sun1	T	A	5: 139,231,131	D308E	probably damaging	Het
Tns1	C	T	1: 73,985,894	V387M	probably damaging	Het
Ttn	C	A	2: 76,751,739	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,895,160	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,958,057	F153L	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
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
R4183:Rb1	UTSW	14	73198526	splice site	probably null
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

Posted On

2016-08-02