Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Rbl1'

168283

Institutional Source

Beutler Lab

Gene Symbol

Rbl1

Ensembl Gene

ENSMUSG00000027641

Gene Name

RB transcriptional corepressor like 1

Synonyms

retinoblastoma-like 1 (p107), p107

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156987813-157046454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157037554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 198 (S198P)

Ref Sequence

ENSEMBL: ENSMUSP00000029170 (fasta)

Gene Model

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

AlphaFold

Q64701

Predicted Effect

probably damaging
Transcript: ENSMUST00000029170
AA Change: S198P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: S198P

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

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,592,041 (GRCm39)	N576K	probably benign	Het
Abca5	G	T	11: 110,190,804 (GRCm39)	L769M	probably damaging	Het
Abca5	T	A	11: 110,190,812 (GRCm39)	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,177,896 (GRCm39)	I191T	probably damaging	Het
Agps	A	T	2: 75,697,123 (GRCm39)	E314D	probably damaging	Het
Agxt	G	A	1: 93,063,490 (GRCm39)	G131R	probably damaging	Het
Ak8	A	G	2: 28,632,758 (GRCm39)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,613,062 (GRCm39)	I329N	probably benign	Het
Apaf1	T	C	10: 90,896,047 (GRCm39)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,369,081 (GRCm39)	S68P	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AU022252	C	T	4: 119,085,294 (GRCm39)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,246,636 (GRCm39)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Cep76	T	C	18: 67,758,028 (GRCm39)	M421V	probably benign	Het
Clk2	A	G	3: 89,076,010 (GRCm39)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,439,128 (GRCm39)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,737,422 (GRCm39)	D180E	probably benign	Het
Col12a1	T	C	9: 79,606,834 (GRCm39)	I530V	probably benign	Het
Cpt1a	T	C	19: 3,415,788 (GRCm39)		probably benign	Het
Cr2	T	G	1: 194,837,580 (GRCm39)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,374,475 (GRCm39)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,718,321 (GRCm39)		probably benign	Het
Cxcr1	T	C	1: 74,231,929 (GRCm39)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,535,361 (GRCm39)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,227,538 (GRCm39)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,186,278 (GRCm39)	V462A	probably benign	Het
Elmo1	A	G	13: 20,474,647 (GRCm39)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,768,374 (GRCm39)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,965,717 (GRCm39)	I370T	probably benign	Het
Esp36	A	T	17: 38,728,172 (GRCm39)	N79K	possibly damaging	Het
Fam229b	A	G	10: 38,994,915 (GRCm39)	*81Q	probably null	Het
Fat4	T	C	3: 39,037,225 (GRCm39)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,148,205 (GRCm39)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,281,331 (GRCm39)		noncoding transcript	Het
Galm	C	A	17: 80,490,696 (GRCm39)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,316,446 (GRCm39)	S735T	probably benign	Het
Hsph1	A	T	5: 149,553,848 (GRCm39)	S207T	probably benign	Het
Il33	C	T	19: 29,932,615 (GRCm39)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm39)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,097,062 (GRCm39)		probably null	Het
Kirrel2	A	G	7: 30,155,923 (GRCm39)	C42R	probably damaging	Het
Letm1	A	C	5: 33,909,899 (GRCm39)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,652,791 (GRCm39)	K160N	probably benign	Het
Lrrtm3	A	G	10: 63,924,804 (GRCm39)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,327,534 (GRCm39)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,279 (GRCm39)	D378E	probably damaging	Het
Mpzl3	A	G	9: 44,977,827 (GRCm39)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,359,676 (GRCm39)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,780,875 (GRCm39)		probably null	Het
Nckap1	T	C	2: 80,383,759 (GRCm39)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,830,242 (GRCm39)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,112,772 (GRCm39)	D143V	probably damaging	Het
Or14a260	T	C	7: 85,985,553 (GRCm39)	D17G	possibly damaging	Het
Or4a69	T	C	2: 89,312,592 (GRCm39)	M296V	probably null	Het
Or4b1d	A	G	2: 89,968,748 (GRCm39)	V245A	probably benign	Het
Or4c120	A	G	2: 89,001,281 (GRCm39)	S92P	probably damaging	Het
Or4f58	A	G	2: 111,851,749 (GRCm39)	V150A	probably benign	Het
Or52b4i	T	C	7: 102,191,332 (GRCm39)	L63P	probably damaging	Het
Or8b44	A	G	9: 38,410,114 (GRCm39)	I50V	probably benign	Het
Or8g17	T	C	9: 38,930,321 (GRCm39)	D172G	probably benign	Het
Parp14	T	G	16: 35,677,594 (GRCm39)	E791D	probably benign	Het
Pcdh8	C	T	14: 80,006,829 (GRCm39)	R578H	possibly damaging	Het
Phrf1	T	A	7: 140,839,714 (GRCm39)		probably benign	Het
Polr3b	C	A	10: 84,516,249 (GRCm39)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,087,720 (GRCm39)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,132,460 (GRCm39)	V33D	probably damaging	Het
Ppp5c	A	G	7: 16,743,907 (GRCm39)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,124,742 (GRCm39)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,671,555 (GRCm39)	V122M	probably damaging	Het
Rasef	G	T	4: 73,653,985 (GRCm39)	Q561K	probably damaging	Het
Rbm12	A	T	2: 155,939,456 (GRCm39)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,385,884 (GRCm39)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,622,173 (GRCm39)	S384P	probably benign	Het
Rpsa	A	T	9: 119,960,066 (GRCm39)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,247,016 (GRCm39)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,357,157 (GRCm39)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,577,482 (GRCm39)		probably null	Het
Sidt2	A	G	9: 45,861,387 (GRCm39)	V19A	probably damaging	Het
Snx14	G	A	9: 88,280,417 (GRCm39)	Q522*	probably null	Het
Stx1b	A	G	7: 127,414,144 (GRCm39)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,511,376 (GRCm39)	M371K	probably benign	Het
Tmem115	T	C	9: 107,412,174 (GRCm39)	V166A	probably benign	Het
Traf5	T	A	1: 191,731,912 (GRCm39)	T310S	probably benign	Het
Trdn	A	G	10: 33,342,448 (GRCm39)	K619E	probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Txk	A	C	5: 72,865,014 (GRCm39)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,389,344 (GRCm39)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,190,023 (GRCm39)		probably null	Het
Ubtfl1	T	G	9: 18,321,489 (GRCm39)	I339R	probably benign	Het
Upf1	A	G	8: 70,791,155 (GRCm39)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,512,823 (GRCm39)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,962,771 (GRCm39)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,055,197 (GRCm39)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vmn2r130	A	G	17: 23,282,775 (GRCm39)	T152A	probably benign	Het
Vps13b	T	C	15: 35,840,121 (GRCm39)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,719 (GRCm39)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,679,501 (GRCm39)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,561,259 (GRCm39)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,921,013 (GRCm39)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,819,771 (GRCm39)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 23,975,156 (GRCm39)	C380*	probably null	Het
Zfp960	T	A	17: 17,308,518 (GRCm39)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,355,619 (GRCm39)	V430E	probably damaging	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
IGL03284:Rbl1	APN	2	157,035,989 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TACAGCAATGATGCACGGAGGC -3'
(R):5'- CGTCCCGAGTGGAATTGTACATGC -3'

Sequencing Primer
(F):5'- CATGGAAATCAGATGGTAAGCC -3'
(R):5'- GGAATTGTACATGCGATTTGACCC -3'

Posted On

2014-04-13