Mutagenetix > Incidental Mutation

Incidental Mutation 'R9747:Rbl1'

732189

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9747 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156987813-157046454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 157033966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 371 (L371I)

Ref Sequence

ENSEMBL: ENSMUSP00000029170 (fasta)

Gene Model

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

AlphaFold

Q64701

Predicted Effect

probably damaging
Transcript: ENSMUST00000029170
AA Change: L371I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: L371I

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,711 (GRCm39)	S701P	probably damaging	Het
Acsl1	A	G	8: 46,961,397 (GRCm39)	K114R	probably benign	Het
Adam11	A	G	11: 102,663,495 (GRCm39)	N275D	probably damaging	Het
Adamts19	G	A	18: 59,023,487 (GRCm39)	R294H	possibly damaging	Het
Adamts20	C	T	15: 94,180,943 (GRCm39)	C1666Y	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Ank1	A	G	8: 23,576,993 (GRCm39)	H195R	probably damaging	Het
Ank2	T	C	3: 126,752,667 (GRCm39)	T350A	probably damaging	Het
Asb3	T	A	11: 31,008,946 (GRCm39)	N243K	possibly damaging	Het
Atp10b	C	T	11: 43,088,339 (GRCm39)	T315I	probably benign	Het
Avl9	C	T	6: 56,730,825 (GRCm39)	S583F	probably damaging	Het
Bclaf1	A	G	10: 20,207,892 (GRCm39)	K700E	possibly damaging	Het
Brd10	C	A	19: 29,731,911 (GRCm39)	C367F	possibly damaging	Het
Cacna1i	G	A	15: 80,246,318 (GRCm39)	E571K	probably benign	Het
Casp1	T	A	9: 5,299,322 (GRCm39)	V17E	probably damaging	Het
Ccdc115	A	T	1: 34,478,001 (GRCm39)	D76E	probably benign	Het
Ccdc150	A	T	1: 54,299,107 (GRCm39)	R28*	probably null	Het
Cd36	T	G	5: 18,019,732 (GRCm39)	E123A	probably benign	Het
Cd5l	A	C	3: 87,275,104 (GRCm39)	Q214H	probably benign	Het
Cfap46	T	A	7: 139,191,907 (GRCm39)	H2370L	unknown	Het
Cftr	C	A	6: 18,285,636 (GRCm39)	T1148K	possibly damaging	Het
Col15a1	T	A	4: 47,312,208 (GRCm39)	L1341Q	probably damaging	Het
Col6a6	T	C	9: 105,661,239 (GRCm39)	E290G	probably benign	Het
D6Wsu163e	A	G	6: 126,938,977 (GRCm39)	E404G	probably benign	Het
Dchs1	A	T	7: 105,412,682 (GRCm39)	D1239E	probably damaging	Het
Dennd4b	C	T	3: 90,177,828 (GRCm39)	T430I	possibly damaging	Het
Dmgdh	C	T	13: 93,825,154 (GRCm39)	P159L	probably damaging	Het
Dmrt3	G	A	19: 25,600,003 (GRCm39)	D283N	probably damaging	Het
Dnttip1	A	G	2: 164,607,100 (GRCm39)	D247G	probably damaging	Het
Efhc1	A	T	1: 21,048,928 (GRCm39)	D447V	probably damaging	Het
Ehhadh	T	C	16: 21,585,138 (GRCm39)	K248E	probably benign	Het
Eif4enif1	T	C	11: 3,163,267 (GRCm39)	L34P	probably damaging	Het
Fer	T	C	17: 64,214,376 (GRCm39)	M103T	probably benign	Het
Gabrg1	T	C	5: 70,938,029 (GRCm39)	M197V	probably damaging	Het
Galnt5	C	A	2: 57,889,477 (GRCm39)	T359K	probably benign	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Gna12	T	C	5: 140,746,602 (GRCm39)	N281S	probably damaging	Het
Golgb1	C	T	16: 36,713,769 (GRCm39)	T250I	probably damaging	Het
Gpd1	A	G	15: 99,618,004 (GRCm39)	K130E	probably benign	Het
Gys2	A	T	6: 142,395,181 (GRCm39)	M428K	possibly damaging	Het
Hey2	A	C	10: 30,709,824 (GRCm39)	S310A	probably benign	Het
Ifi47	T	C	11: 48,987,367 (GRCm39)	V378A	possibly damaging	Het
Ighv8-12	A	G	12: 115,611,640 (GRCm39)	S95P	probably damaging	Het
Igkv1-131	G	T	6: 67,743,215 (GRCm39)	T56K	probably damaging	Het
Igsf23	T	C	7: 19,675,839 (GRCm39)	N127S	probably benign	Het
Iqgap2	T	A	13: 95,821,505 (GRCm39)	N546I	probably damaging	Het
Irf9	A	G	14: 55,844,045 (GRCm39)	H270R	probably benign	Het
Itga6	C	T	2: 71,656,871 (GRCm39)	S375L	probably damaging	Het
Jak1	T	C	4: 101,016,087 (GRCm39)	E857G	probably benign	Het
Kbtbd8	A	G	6: 95,098,838 (GRCm39)	T116A	possibly damaging	Het
Kif5a	T	C	10: 127,074,622 (GRCm39)	I570V	probably benign	Het
Klhdc10	T	C	6: 30,439,859 (GRCm39)	M154T	possibly damaging	Het
Krtap6-2	A	G	16: 89,216,776 (GRCm39)	Y64H	unknown	Het
Lce1l	C	T	3: 92,757,828 (GRCm39)	C10Y	unknown	Het
Lrrc72	A	G	12: 36,264,371 (GRCm39)	Y29H	probably damaging	Het
Ltbp2	A	T	12: 84,915,515 (GRCm39)	N181K	probably damaging	Het
Ly75	A	G	2: 60,136,672 (GRCm39)		probably null	Het
Mpped1	A	G	15: 83,684,305 (GRCm39)	Y109C	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,458 (GRCm39)	V267I	probably benign	Het
Muc4	T	A	16: 32,754,698 (GRCm38)	V1524E	probably benign	Het
Nabp2	T	A	10: 128,237,610 (GRCm39)	R208*	probably null	Het
Ndst3	A	G	3: 123,340,461 (GRCm39)	F786L	possibly damaging	Het
Nos2	C	T	11: 78,822,472 (GRCm39)	P123S	probably damaging	Het
Nrcam	T	A	12: 44,645,192 (GRCm39)	V1198E	probably damaging	Het
Oacyl	A	G	18: 65,880,962 (GRCm39)	Q592R	possibly damaging	Het
Or10ak9	C	T	4: 118,726,217 (GRCm39)	P80S	probably damaging	Het
Or5as1	T	A	2: 86,980,898 (GRCm39)	T36S	probably benign	Het
Pcdhgc4	A	G	18: 37,951,026 (GRCm39)	Y814C	probably benign	Het
Pcm1	A	C	8: 41,757,135 (GRCm39)	H1349P	probably benign	Het
Pcsk6	T	A	7: 65,633,470 (GRCm39)	D567E	probably damaging	Het
Pdgfd	T	C	9: 6,337,310 (GRCm39)	V214A	probably benign	Het
Plekhg3	A	T	12: 76,611,367 (GRCm39)	N270I	probably damaging	Het
Rasgrf1	T	A	9: 89,877,047 (GRCm39)	V804E	probably benign	Het
Rcl1	T	A	19: 29,105,482 (GRCm39)	I223N	probably damaging	Het
Saa4	C	T	7: 46,381,077 (GRCm39)	G15E	probably damaging	Het
Selenbp1	T	C	3: 94,844,648 (GRCm39)	S102P	probably damaging	Het
Setx	G	T	2: 29,064,377 (GRCm39)	E232*	probably null	Het
Sik2	A	G	9: 50,810,058 (GRCm39)	F502L	possibly damaging	Het
Slamf9	A	T	1: 172,305,782 (GRCm39)	I272F	unknown	Het
Slc33a1	A	T	3: 63,861,424 (GRCm39)	D259E	probably benign	Het
Slc41a3	A	G	6: 90,621,138 (GRCm39)	I393V	probably benign	Het
Slk	A	G	19: 47,608,346 (GRCm39)	D433G	possibly damaging	Het
Spata13	C	T	14: 60,929,240 (GRCm39)	P266L	probably benign	Het
Speer4c1	T	A	5: 15,916,652 (GRCm39)	Q105L	probably benign	Het
Srgap1	T	A	10: 121,761,771 (GRCm39)	I126F	probably damaging	Het
Srgap1	A	G	10: 121,628,579 (GRCm39)	S818P	probably benign	Het
Tbpl2	A	T	2: 23,981,104 (GRCm39)	C232*	probably null	Het
Tctn3	T	G	19: 40,599,743 (GRCm39)	N153T	possibly damaging	Het
Tdrd1	T	A	19: 56,847,101 (GRCm39)	V914E	probably benign	Het
Tmem200b	A	G	4: 131,649,359 (GRCm39)	H93R	possibly damaging	Het
Tmem33	T	G	5: 67,425,922 (GRCm39)	N155K	possibly damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo2	A	G	8: 85,781,988 (GRCm39)	D869G	probably benign	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Ttn	C	T	2: 76,594,293 (GRCm39)	V20552I	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vmn2r92	T	C	17: 18,405,201 (GRCm39)	F782L	possibly damaging	Het
Zfc3h1	G	A	10: 115,244,821 (GRCm39)	D765N	possibly damaging	Het
Zfp472	T	A	17: 33,196,271 (GRCm39)	H115Q	possibly damaging	Het
Zmynd11	T	A	13: 9,739,244 (GRCm39)	N514I	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
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
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
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'- ATGCAGTAAAACTTGCCCCATG -3'
(R):5'- GCCAGAGGAAATAACTCGTTAATC -3'

Sequencing Primer
(F):5'- TGCACTCCCAGTCTCAAAAATG -3'
(R):5'- TGCCTTTAAACCCTCAGGAG -3'

Posted On

2022-11-14