Mutagenetix > Incidental Mutation

Incidental Mutation 'R4306:Rb1'

324043

Institutional Source

Beutler Lab

Gene Symbol

Rb1

Ensembl Gene

ENSMUSG00000022105

Gene Name

RB transcriptional corepressor 1

Synonyms

Rb-1, retinoblastoma 1, Rb, pRb

MMRRC Submission

041092-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73430298-73563446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73500135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 504 (T504I)

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

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

AlphaFold

P13405

Predicted Effect

probably damaging
Transcript: ENSMUST00000022701
AA Change: T504I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: T504I

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: ENSMUST00000169002

Meta Mutation Damage Score

0.2264

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (33/34)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,042,300 (GRCm39)	S440*	probably null	Het
Chrdl2	A	G	7: 99,671,229 (GRCm39)	T116A	probably damaging	Het
Chst12	T	C	5: 140,510,401 (GRCm39)	F343L	probably damaging	Het
Cpeb2	T	A	5: 43,392,578 (GRCm39)		probably benign	Het
Cyp27b1	A	G	10: 126,886,957 (GRCm39)	D391G	probably benign	Het
Dll3	T	C	7: 28,001,082 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,260,932 (GRCm39)	I2030N	probably damaging	Het
Fap	C	T	2: 62,361,051 (GRCm39)		probably null	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Fzd7	T	C	1: 59,523,566 (GRCm39)	V483A	probably damaging	Het
Gpm6a	T	C	8: 55,500,428 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,492,735 (GRCm39)	H539R	probably damaging	Het
Irs1	C	T	1: 82,265,685 (GRCm39)	A844T	probably benign	Het
Myo1a	T	G	10: 127,549,950 (GRCm39)	S477A	probably benign	Het
Naga	C	T	15: 82,221,095 (GRCm39)	W67*	probably null	Het
Or51ah3	G	C	7: 103,210,380 (GRCm39)	R232T	possibly damaging	Het
Or51ah3	A	T	7: 103,210,379 (GRCm39)	R232*	probably null	Het
Osbpl1a	T	C	18: 12,952,652 (GRCm39)	E87G	probably benign	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Rnf144b	A	G	13: 47,396,418 (GRCm39)	N252D	probably damaging	Het
Slit2	T	A	5: 48,460,125 (GRCm39)	N1385K	possibly damaging	Het
Spaca7b	T	A	8: 11,728,590 (GRCm39)	N27I	probably damaging	Het
Tas2r124	A	G	6: 132,731,954 (GRCm39)	I88V	probably benign	Het
Trip11	A	G	12: 101,853,198 (GRCm39)	F465L	probably benign	Het
Usp31	G	A	7: 121,306,152 (GRCm39)	P109S	possibly damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r71	G	T	7: 85,273,360 (GRCm39)	D725Y	probably damaging	Het
Zfp459	T	C	13: 67,561,307 (GRCm39)	K47R	probably damaging	Het

Other mutations in Rb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Rb1	APN	14	73,502,038 (GRCm39)	missense	probably damaging	1.00
IGL00951:Rb1	APN	14	73,559,512 (GRCm39)	missense	probably damaging	1.00
IGL01152:Rb1	APN	14	73,443,310 (GRCm39)	missense	probably damaging	1.00
IGL01339:Rb1	APN	14	73,501,811 (GRCm39)	critical splice acceptor site	probably null
IGL01349:Rb1	APN	14	73,506,558 (GRCm39)	missense	probably damaging	1.00
IGL01390:Rb1	APN	14	73,532,439 (GRCm39)	missense	probably benign	0.02
IGL02066:Rb1	APN	14	73,435,974 (GRCm39)	missense	probably benign	0.06
IGL02207:Rb1	APN	14	73,443,525 (GRCm39)	missense	probably damaging	1.00
IGL02860:Rb1	APN	14	73,443,452 (GRCm39)	missense	probably damaging	1.00
IGL03370:Rb1	APN	14	73,520,306 (GRCm39)	critical splice donor site	probably null
rubidium	UTSW	14	73,436,751 (GRCm39)	missense	probably damaging	1.00
P0028:Rb1	UTSW	14	73,502,068 (GRCm39)	missense	probably damaging	1.00
R0553:Rb1	UTSW	14	73,449,152 (GRCm39)	nonsense	probably null
R0563:Rb1	UTSW	14	73,454,207 (GRCm39)	missense	probably damaging	1.00
R0586:Rb1	UTSW	14	73,525,124 (GRCm39)	intron	probably benign
R0595:Rb1	UTSW	14	73,511,120 (GRCm39)	missense	probably damaging	1.00
R0755:Rb1	UTSW	14	73,434,653 (GRCm39)	makesense	probably null
R1480:Rb1	UTSW	14	73,500,042 (GRCm39)	missense	probably benign
R1513:Rb1	UTSW	14	73,559,524 (GRCm39)	missense	probably benign	0.00
R1752:Rb1	UTSW	14	73,525,064 (GRCm39)	missense	probably damaging	0.99
R1919:Rb1	UTSW	14	73,450,430 (GRCm39)	nonsense	probably null
R2010:Rb1	UTSW	14	73,532,433 (GRCm39)	missense	probably benign	0.16
R2087:Rb1	UTSW	14	73,517,692 (GRCm39)	missense	probably benign	0.09
R2152:Rb1	UTSW	14	73,526,165 (GRCm39)	missense	probably benign
R2167:Rb1	UTSW	14	73,449,091 (GRCm39)	missense	probably damaging	1.00
R3950:Rb1	UTSW	14	73,500,102 (GRCm39)	missense	probably damaging	1.00
R4183:Rb1	UTSW	14	73,435,966 (GRCm39)	splice site	probably null
R4225:Rb1	UTSW	14	73,506,631 (GRCm39)	missense	possibly damaging	0.58
R4464:Rb1	UTSW	14	73,436,638 (GRCm39)	splice site	probably null
R4609:Rb1	UTSW	14	73,499,954 (GRCm39)	splice site	probably benign
R4671:Rb1	UTSW	14	73,511,116 (GRCm39)	missense	probably damaging	1.00
R4916:Rb1	UTSW	14	73,454,131 (GRCm39)	missense	probably damaging	1.00
R5160:Rb1	UTSW	14	73,501,895 (GRCm39)	synonymous	silent
R5210:Rb1	UTSW	14	73,436,751 (GRCm39)	missense	probably damaging	1.00
R5320:Rb1	UTSW	14	73,450,566 (GRCm39)	nonsense	probably null
R5436:Rb1	UTSW	14	73,450,580 (GRCm39)	splice site	probably null
R5467:Rb1	UTSW	14	73,449,060 (GRCm39)	missense	possibly damaging	0.92
R5592:Rb1	UTSW	14	73,449,187 (GRCm39)	missense	probably damaging	1.00
R6326:Rb1	UTSW	14	73,435,974 (GRCm39)	missense	probably benign	0.06
R6363:Rb1	UTSW	14	73,525,081 (GRCm39)	missense	probably benign	0.01
R6395:Rb1	UTSW	14	73,436,636 (GRCm39)	missense	probably damaging	1.00
R6414:Rb1	UTSW	14	73,520,414 (GRCm39)	missense	unknown
R6460:Rb1	UTSW	14	73,515,894 (GRCm39)	missense	probably benign	0.06
R6503:Rb1	UTSW	14	73,443,320 (GRCm39)	missense	probably benign	0.08
R6519:Rb1	UTSW	14	73,535,503 (GRCm39)	missense	probably benign	0.00
R6671:Rb1	UTSW	14	73,434,706 (GRCm39)	missense	probably damaging	1.00
R7026:Rb1	UTSW	14	73,535,539 (GRCm39)	missense	probably benign	0.00
R7103:Rb1	UTSW	14	73,500,084 (GRCm39)	missense	probably damaging	1.00
R7263:Rb1	UTSW	14	73,520,363 (GRCm39)	nonsense	probably null
R7478:Rb1	UTSW	14	73,506,577 (GRCm39)	missense	probably damaging	1.00
R7519:Rb1	UTSW	14	73,502,048 (GRCm39)	missense	probably damaging	1.00
R7817:Rb1	UTSW	14	73,435,983 (GRCm39)	missense	probably damaging	1.00
R8323:Rb1	UTSW	14	73,503,023 (GRCm39)	missense	probably benign	0.09
R8809:Rb1	UTSW	14	73,503,000 (GRCm39)	missense	probably damaging	1.00
R8813:Rb1	UTSW	14	73,500,027 (GRCm39)	missense	probably damaging	0.96
R8849:Rb1	UTSW	14	73,434,709 (GRCm39)	missense	probably damaging	1.00
R9272:Rb1	UTSW	14	73,517,602 (GRCm39)	missense	possibly damaging	0.85
R9482:Rb1	UTSW	14	73,443,493 (GRCm39)	missense	probably damaging	1.00
R9606:Rb1	UTSW	14	73,517,573 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTTACGCATGAATACCTTCGG -3'
(R):5'- CAGTTTCTTGAGAGTCTGTAGACC -3'

Sequencing Primer
(F):5'- CGCATGAATACCTTCGGTTATTTAGC -3'
(R):5'- GACCACAGAATAAGAAATACCTGCTG -3'

Posted On

2015-06-24