Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02860:Rb1'

362131

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 #

IGL02860

Quality Score

Status

Chromosome

Chromosomal Location

73430298-73563446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73443452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 768 (R768G)

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

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

AlphaFold

P13405

Predicted Effect

probably damaging
Transcript: ENSMUST00000022701
AA Change: R768G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: R768G

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	T	9: 90,073,915 (GRCm39)	M832L	probably benign	Het
Cars1	A	T	7: 143,140,158 (GRCm39)	D99E	probably damaging	Het
Ccdc112	A	G	18: 46,420,509 (GRCm39)	F414L	probably benign	Het
Chst15	C	T	7: 131,870,831 (GRCm39)	V235I	probably benign	Het
Dysf	G	T	6: 84,167,880 (GRCm39)		probably null	Het
Elavl2	T	C	4: 91,149,190 (GRCm39)	D174G	probably damaging	Het
Gapdhs	T	A	7: 30,429,308 (GRCm39)		probably null	Het
Gnb1l	G	A	16: 18,371,285 (GRCm39)	G259R	probably damaging	Het
Ighv9-2	T	G	12: 114,072,857 (GRCm39)	I39L	possibly damaging	Het
Kntc1	T	A	5: 123,907,936 (GRCm39)	N474K	possibly damaging	Het
Lrrc8c	T	C	5: 105,727,481 (GRCm39)		probably benign	Het
Lyn	C	T	4: 3,745,594 (GRCm39)	A131V	possibly damaging	Het
Mindy2	T	C	9: 70,563,826 (GRCm39)	E168G	probably damaging	Het
Morc2a	T	C	11: 3,611,821 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nell1	A	T	7: 50,498,233 (GRCm39)	I597F	probably damaging	Het
Nudt12	T	A	17: 59,317,430 (GRCm39)	R72S	probably benign	Het
Pan2	C	T	10: 128,146,604 (GRCm39)	R414*	probably null	Het
Rps6ka2	A	G	17: 7,550,255 (GRCm39)	E440G	possibly damaging	Het
Serpinb3a	C	T	1: 106,977,183 (GRCm39)		probably benign	Het
Stx8	C	A	11: 67,875,391 (GRCm39)	T72K	probably damaging	Het
Tecrl	A	G	5: 83,502,844 (GRCm39)	F2L	probably benign	Het
Tmem263	C	T	10: 84,950,416 (GRCm39)	T69I	probably damaging	Het
Ttc39b	T	C	4: 83,181,983 (GRCm39)	N49D	probably benign	Het
Ttn	A	G	2: 76,547,359 (GRCm39)	L32229P	probably damaging	Het
Zfp358	T	C	8: 3,546,074 (GRCm39)	F219L	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
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
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

2015-12-18