Mutagenetix > Incidental Mutations

Incidental Mutation 'R5320:Rb1'

406080

Institutional Source

Beutler Lab

Gene Symbol

Rb1

Ensembl Gene

ENSMUSG00000022105

Gene Name

RB transcriptional corepressor 1

Synonyms

Rb-1, Rb, pRb

MMRRC Submission

042903-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73183673-73325822 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 73213126 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 599 (Y599*)

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000022701
AA Change: Y599*

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: Y599*

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,567	I581N	probably damaging	Het
Abcb10	A	G	8: 123,971,024	F187S	probably benign	Het
Actl11	T	A	9: 107,931,004	V842E	possibly damaging	Het
Akap12	A	G	10: 4,357,291	D1367G	probably benign	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,425,042	V258M	probably damaging	Het
Bptf	T	A	11: 107,081,367	K892*	probably null	Het
Cap2	A	G	13: 46,648,364	*422W	probably null	Het
Cars2	G	T	8: 11,517,854	H414N	probably benign	Het
Ccnt1	A	C	15: 98,544,243	S381R	probably benign	Het
Cdyl2	A	T	8: 116,595,055	C244*	probably null	Het
Cers2	A	G	3: 95,320,994	E115G	probably null	Het
Cpt1b	G	A	15: 89,419,274	P553S	probably benign	Het
Cuedc1	A	G	11: 88,177,310	E128G	probably damaging	Het
Dll4	T	A	2: 119,326,487	V80D	probably damaging	Het
Dopey2	T	C	16: 93,739,986	L113P	probably damaging	Het
Doxl2	T	A	6: 48,975,540	L133Q	probably damaging	Het
Fam98a	A	G	17: 75,538,815	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,197,614	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,405,873	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,818,277	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,159,639	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,262,983	I687N	probably damaging	Het
Krt18	A	T	15: 102,028,520	D81V	probably damaging	Het
Lama3	A	C	18: 12,552,855	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,546,465	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,810,333	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,859,001	I1895F	unknown	Het
Myh8	G	A	11: 67,286,263	V414I	probably damaging	Het
Myo1d	A	T	11: 80,684,323		probably null	Het
Nav2	A	T	7: 49,491,373	M889L	probably benign	Het
Oc90	C	T	15: 65,882,608	G236D	probably benign	Het
Olfr60	A	G	7: 140,345,635	V118A	probably benign	Het
Pak4	A	G	7: 28,568,206	I11T	probably damaging	Het
Papss2	T	C	19: 32,638,387	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,463,791	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,151,103	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,252,776	I174F	possibly damaging	Het
Pom121l2	G	A	13: 21,981,845	W95*	probably null	Het
Prcp	A	T	7: 92,928,635	T336S	probably benign	Het
Prdm11	A	C	2: 93,012,881	S78A	probably benign	Het
Ralgds	T	C	2: 28,545,212	I405T	probably damaging	Het
Rasgrf1	A	G	9: 90,020,425	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,408,834		probably null	Het
Rnf141	A	T	7: 110,833,803	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,116,416	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,648,109	V736I	probably damaging	Het
Sim2	A	T	16: 94,104,739	T141S	probably benign	Het
Slc6a15	G	T	10: 103,408,206	V436L	probably damaging	Het
Smarca2	T	C	19: 26,691,372	S924P	probably damaging	Het
Svs1	T	A	6: 48,987,575	F172L	probably benign	Het
Tacc1	T	C	8: 25,181,865	E449G	probably benign	Het
Tlr3	A	T	8: 45,399,100	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,479,856	A82T	probably benign	Het
Tom1l2	A	T	11: 60,242,822	L54*	probably null	Het
Trav12-2	A	G	14: 53,616,899	Y110C	probably benign	Het
Trdn	T	A	10: 33,333,251		probably null	Het
Trim36	G	T	18: 46,167,498	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,299,178	M600L	probably damaging	Het
Trpm2	T	A	10: 77,923,521	Q1143L	probably benign	Het
Usp34	T	A	11: 23,333,739	D144E	probably benign	Het
Vps18	A	T	2: 119,297,377	R894*	probably null	Het
Vwa1	A	G	4: 155,770,912	V248A	probably benign	Het
Wdr75	T	C	1: 45,799,051	V40A	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACAGGCTATACTTGAAAAGGG -3'
(R):5'- GACATTGGGGTTTAGAAAGTTAGC -3'

Sequencing Primer
(F):5'- GAACTCGCTTTGTAGACCAGACTG -3'
(R):5'- AGCATATTTTTCCTGTTAAGCTAGC -3'

Posted On

2016-07-22