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, retinoblastoma 1, Rb, pRb

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

73430298-73563446 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 73520306 bp (GRCm39)

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 (GRCm39)	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,829,881 (GRCm39)	I296T	probably damaging	Het
Col14a1	A	G	15: 55,351,937 (GRCm39)		probably null	Het
Daam2	G	T	17: 49,793,529 (GRCm39)	D329E	probably benign	Het
Defb26	A	G	2: 152,349,902 (GRCm39)	V126A	probably benign	Het
Fasn	A	T	11: 120,703,621 (GRCm39)	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,384,219 (GRCm39)	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,575,087 (GRCm39)	I13L	probably damaging	Het
Fggy	A	T	4: 95,710,301 (GRCm39)	H300L	probably damaging	Het
Fndc3c1	G	A	X: 105,464,307 (GRCm39)	T1277I	probably benign	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,742,946 (GRCm39)	R567H	probably benign	Het
Kpna6	G	A	4: 129,549,314 (GRCm39)	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931 (GRCm39)	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,297,219 (GRCm39)	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,437,385 (GRCm39)	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,418,514 (GRCm39)	R3820L	probably benign	Het
Mus81	A	G	19: 5,534,991 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,230,653 (GRCm39)	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,249,685 (GRCm39)	V29D	probably damaging	Het
Plch2	T	C	4: 155,071,371 (GRCm39)	S244G	probably benign	Het
Rapgef5	C	A	12: 117,694,294 (GRCm39)	T372K	probably damaging	Het
Ryr3	A	T	2: 112,586,944 (GRCm39)	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 80,895,855 (GRCm39)		probably null	Het
Slc38a1	C	T	15: 96,477,228 (GRCm39)	V362I	possibly damaging	Het
Sun1	T	A	5: 139,216,886 (GRCm39)	D308E	probably damaging	Het
Tns1	C	T	1: 74,025,053 (GRCm39)	V387M	probably damaging	Het
Ttn	C	A	2: 76,582,083 (GRCm39)	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,725,641 (GRCm39)	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,607,265 (GRCm39)	F153L	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
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
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

Posted On

2016-08-02