Mutagenetix > Incidental Mutation

Incidental Mutation 'R6503:Rb1'

519853

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

044635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6503 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73430298-73563446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73443320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 778 (I778V)

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

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

AlphaFold

P13405

Predicted Effect

probably benign
Transcript: ENSMUST00000022701
AA Change: I778V

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: I778V

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: ENSMUST00000102166

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	T	7: 78,747,580 (GRCm39)	A784S	probably benign	Het
Anxa4	A	G	6: 86,721,649 (GRCm39)	S204P	probably damaging	Het
Arhgef7	A	G	8: 11,883,054 (GRCm39)	N625D	possibly damaging	Het
Cage1	G	A	13: 38,209,425 (GRCm39)	T78I	possibly damaging	Het
Dnaaf2	A	T	12: 69,244,285 (GRCm39)	C259S	probably benign	Het
Enah	C	T	1: 181,746,076 (GRCm39)	G402R	probably damaging	Het
Epha6	T	A	16: 60,025,984 (GRCm39)	H486L	possibly damaging	Het
Fat4	A	G	3: 39,036,406 (GRCm39)	M3353V	probably benign	Het
Gulp1	A	T	1: 44,812,540 (GRCm39)	Q170L	probably damaging	Het
Jag1	C	T	2: 136,943,549 (GRCm39)	G216S	probably damaging	Het
Krt8	T	A	15: 101,906,369 (GRCm39)	Y380F	possibly damaging	Het
Mettl18	T	C	1: 163,824,687 (GRCm39)	V336A	possibly damaging	Het
Ntmt2	T	A	1: 163,531,715 (GRCm39)	D146V	probably damaging	Het
Oas1e	T	C	5: 120,926,042 (GRCm39)	D342G	probably benign	Het
Or4a75	A	G	2: 89,447,922 (GRCm39)	S205P	possibly damaging	Het
Parp10	G	A	15: 76,126,684 (GRCm39)	R195C	probably damaging	Het
Pcdha1	G	A	18: 37,064,724 (GRCm39)	V463M	probably damaging	Het
Prb1c	C	A	6: 132,338,655 (GRCm39)	G188*	probably null	Het
Sacs	T	A	14: 61,448,810 (GRCm39)	S3619T	probably benign	Het
St18	A	T	1: 6,865,621 (GRCm39)	D33V	probably damaging	Het
Stag3	T	C	5: 138,302,682 (GRCm39)	S1014P	probably damaging	Het
Syngap1	A	G	17: 27,163,658 (GRCm39)	D40G	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem131l	A	G	3: 83,848,251 (GRCm39)	S300P	probably benign	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
R4306:Rb1	UTSW	14	73,500,135 (GRCm39)	missense	probably damaging	1.00
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
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'- ACATTCAACAGCCTATCCCATTTTG -3'
(R):5'- ACTCCGTTTTCATGCAGAGAC -3'

Sequencing Primer
(F):5'- TGTTTAAATCAAAATTGCCAAGTGC -3'
(R):5'- CCGTTTTCATGCAGAGACTAAAAAC -3'

Posted On

2018-06-06