Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03284:Rbl1'

415671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbl1

Ensembl Gene

ENSMUSG00000027641

Gene Name

RB transcriptional corepressor like 1

Synonyms

retinoblastoma-like 1 (p107), p107

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03284

Quality Score

Status

Chromosome

Chromosomal Location

156987813-157046454 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 157035989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029170]

AlphaFold

Q64701

Predicted Effect

probably benign
Transcript: ENSMUST00000029170

SMART Domains

Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
DUF3452	70	212	5.14e-78	SMART
RB_A	385	578	9.58e-119	SMART
low complexity region	706	719	N/A	INTRINSIC
CYCLIN	800	934	8.68e-6	SMART
Rb_C	947	1063	2.29e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154721

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 similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are viable and fertile, but may show impaired growth, myeloid hyperplasia in spleen and liver and give rise to cells with a 2X doubling time in vitro. These effects are genetic background dependent. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,354 (GRCm39)		probably benign	Het
Atxn7l3b	T	C	10: 112,764,431 (GRCm39)	D66G	probably benign	Het
Dmac2	T	C	7: 25,321,851 (GRCm39)		probably null	Het
Ephb2	A	G	4: 136,388,827 (GRCm39)	M590T	probably damaging	Het
Fbxo41	C	T	6: 85,456,747 (GRCm39)	R474H	probably damaging	Het
Fcgbp	G	T	7: 27,784,857 (GRCm39)	A306S	possibly damaging	Het
Hapstr1	A	G	16: 8,673,786 (GRCm39)	I238V	possibly damaging	Het
Hmg20a	A	G	9: 56,388,901 (GRCm39)	D156G	probably benign	Het
Mast4	A	G	13: 102,887,905 (GRCm39)	V1168A	probably damaging	Het
Oog2	A	G	4: 143,923,177 (GRCm39)		probably benign	Het
Pate12	T	A	9: 36,344,759 (GRCm39)	C96S	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,914 (GRCm39)		probably benign	Het
Psmd6	A	T	14: 14,112,546 (GRCm38)	N351K	probably benign	Het
Ralgps1	T	C	2: 33,036,577 (GRCm39)		probably benign	Het
Smarcc1	G	A	9: 110,004,142 (GRCm39)	V399I	probably benign	Het
Srek1	C	A	13: 103,897,045 (GRCm39)	V99F	probably damaging	Het
Styxl1	A	G	5: 135,785,949 (GRCm39)	V32A	possibly damaging	Het
Tnn	C	T	1: 159,953,022 (GRCm39)	V673I	probably benign	Het
Vmn2r107	T	A	17: 20,577,173 (GRCm39)	D390E	probably benign	Het

Other mutations in Rbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Rbl1	APN	2	156,994,812 (GRCm39)	splice site	probably null
IGL01418:Rbl1	APN	2	156,994,812 (GRCm39)	splice site	probably null
IGL01597:Rbl1	APN	2	157,037,369 (GRCm39)	splice site	probably benign
IGL01788:Rbl1	APN	2	157,005,576 (GRCm39)	missense	probably benign	0.15
IGL02366:Rbl1	APN	2	157,016,813 (GRCm39)	missense	probably benign	0.18
IGL02527:Rbl1	APN	2	157,035,968 (GRCm39)	missense	probably benign	0.05
IGL02720:Rbl1	APN	2	157,041,349 (GRCm39)	missense	possibly damaging	0.94
IGL02828:Rbl1	APN	2	157,041,384 (GRCm39)	missense	probably damaging	1.00
IGL02926:Rbl1	APN	2	157,009,333 (GRCm39)	missense	probably benign	0.08
IGL02968:Rbl1	APN	2	157,019,194 (GRCm39)	missense	probably damaging	1.00
R0042:Rbl1	UTSW	2	157,017,624 (GRCm39)	splice site	probably benign
R0089:Rbl1	UTSW	2	157,041,334 (GRCm39)	critical splice donor site	probably null
R0173:Rbl1	UTSW	2	157,001,605 (GRCm39)	missense	probably benign	0.00
R0464:Rbl1	UTSW	2	156,989,465 (GRCm39)	missense	probably damaging	1.00
R1178:Rbl1	UTSW	2	156,989,575 (GRCm39)	missense	possibly damaging	0.92
R1296:Rbl1	UTSW	2	157,011,891 (GRCm39)	missense	probably benign	0.09
R1430:Rbl1	UTSW	2	157,011,826 (GRCm39)	missense	probably benign
R1445:Rbl1	UTSW	2	157,035,018 (GRCm39)	missense	probably benign
R1511:Rbl1	UTSW	2	157,037,554 (GRCm39)	missense	probably damaging	1.00
R1603:Rbl1	UTSW	2	157,017,579 (GRCm39)	missense	possibly damaging	0.75
R1666:Rbl1	UTSW	2	157,001,654 (GRCm39)	missense	probably damaging	1.00
R1668:Rbl1	UTSW	2	157,001,654 (GRCm39)	missense	probably damaging	1.00
R1680:Rbl1	UTSW	2	157,016,703 (GRCm39)	missense	probably damaging	0.97
R1771:Rbl1	UTSW	2	157,005,454 (GRCm39)	splice site	probably null
R1833:Rbl1	UTSW	2	157,037,475 (GRCm39)	missense	probably damaging	0.98
R1852:Rbl1	UTSW	2	157,016,823 (GRCm39)	missense	probably benign	0.01
R2304:Rbl1	UTSW	2	156,989,551 (GRCm39)	missense	probably benign	0.02
R3552:Rbl1	UTSW	2	157,037,505 (GRCm39)	missense	probably benign	0.19
R3605:Rbl1	UTSW	2	157,019,153 (GRCm39)	missense	probably damaging	1.00
R3607:Rbl1	UTSW	2	157,019,153 (GRCm39)	missense	probably damaging	1.00
R4160:Rbl1	UTSW	2	157,034,039 (GRCm39)	intron	probably benign
R4423:Rbl1	UTSW	2	157,010,875 (GRCm39)	intron	probably benign
R4636:Rbl1	UTSW	2	157,009,340 (GRCm39)	missense	possibly damaging	0.82
R4780:Rbl1	UTSW	2	157,016,724 (GRCm39)	missense	probably benign	0.43
R4789:Rbl1	UTSW	2	157,019,275 (GRCm39)	missense	probably benign
R5145:Rbl1	UTSW	2	157,017,397 (GRCm39)	intron	probably benign
R5802:Rbl1	UTSW	2	157,003,353 (GRCm39)	missense	probably benign	0.23
R5851:Rbl1	UTSW	2	157,009,245 (GRCm39)	missense	probably benign	0.00
R6742:Rbl1	UTSW	2	157,011,918 (GRCm39)	missense	probably benign	0.19
R6861:Rbl1	UTSW	2	156,994,887 (GRCm39)	missense	probably damaging	1.00
R6943:Rbl1	UTSW	2	157,030,206 (GRCm39)	missense	probably benign
R7090:Rbl1	UTSW	2	156,994,820 (GRCm39)	missense	probably benign	0.02
R7176:Rbl1	UTSW	2	157,030,245 (GRCm39)	missense	probably damaging	1.00
R7769:Rbl1	UTSW	2	157,033,900 (GRCm39)	missense	probably benign	0.01
R8032:Rbl1	UTSW	2	157,029,918 (GRCm39)	nonsense	probably null
R8544:Rbl1	UTSW	2	157,035,124 (GRCm39)	missense	probably damaging	1.00
R8552:Rbl1	UTSW	2	157,038,174 (GRCm39)	missense	probably damaging	1.00
R8802:Rbl1	UTSW	2	157,038,073 (GRCm39)	critical splice donor site	probably null
R8902:Rbl1	UTSW	2	157,041,420 (GRCm39)	missense	probably benign	0.00
R9032:Rbl1	UTSW	2	157,035,073 (GRCm39)	missense	probably benign	0.02
R9401:Rbl1	UTSW	2	157,016,742 (GRCm39)	missense	possibly damaging	0.81
R9420:Rbl1	UTSW	2	157,035,154 (GRCm39)	missense	probably damaging	0.99
R9747:Rbl1	UTSW	2	157,033,966 (GRCm39)	missense	probably damaging	0.99
X0057:Rbl1	UTSW	2	157,030,249 (GRCm39)	nonsense	probably null
X0058:Rbl1	UTSW	2	157,016,733 (GRCm39)	missense	possibly damaging	0.88

Posted On

2016-08-02