Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Rbl1'

98704

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

038664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0464 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

156987813-157046454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 156989465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1051 (K1051N)

Ref Sequence

ENSEMBL: ENSMUSP00000029170 (fasta)

Gene Model

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

AlphaFold

Q64701

Predicted Effect

probably damaging
Transcript: ENSMUST00000029170
AA Change: K1051N

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

SMART Domains

Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: K1051N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,574,884 (GRCm39)	Y84*	probably null	Het
Adar	T	A	3: 89,642,889 (GRCm39)	C257S	possibly damaging	Het
Adgrd1	G	T	5: 129,239,714 (GRCm39)	C507F	probably damaging	Het
Atp5f1a	T	C	18: 77,867,622 (GRCm39)	Y299H	probably benign	Het
Bok	G	T	1: 93,621,935 (GRCm39)	R77L	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Ceacam1	A	G	7: 25,171,442 (GRCm39)	S341P	possibly damaging	Het
Cfhr3	A	T	1: 139,521,683 (GRCm39)		noncoding transcript	Het
Ckap5	A	G	2: 91,409,858 (GRCm39)	I947V	probably benign	Het
Clec2i	T	C	6: 128,872,386 (GRCm39)	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,690 (GRCm39)	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 26,831,962 (GRCm39)	Q406K	probably benign	Het
Ddx28	A	G	8: 106,736,685 (GRCm39)	S458P	probably damaging	Het
Dppa3	T	A	6: 122,605,492 (GRCm39)		probably null	Het
Dusp10	C	A	1: 183,801,273 (GRCm39)	L347I	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fbxl15	A	T	19: 46,316,951 (GRCm39)	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567 (GRCm38)		probably benign	Het
Fras1	G	T	5: 96,784,662 (GRCm39)	V882F	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,361,726 (GRCm39)		probably benign	Het
Ganc	T	A	2: 120,267,175 (GRCm39)	V497D	probably benign	Het
Glt8d2	T	G	10: 82,490,564 (GRCm39)	H242P	possibly damaging	Het
Gna15	T	C	10: 81,348,338 (GRCm39)	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,371,712 (GRCm39)	K609E	unknown	Het
Gprc5a	A	T	6: 135,056,413 (GRCm39)	K287*	probably null	Het
Iqub	T	A	6: 24,479,262 (GRCm39)	K427*	probably null	Het
Itpr2	C	G	6: 146,277,387 (GRCm39)	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,234,269 (GRCm39)	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,693,426 (GRCm39)	E334G	probably damaging	Het
Lypd6	T	A	2: 50,080,690 (GRCm39)	I126N	probably damaging	Het
Ms4a20	A	G	19: 11,089,801 (GRCm39)	L28P	probably damaging	Het
Mtus1	T	C	8: 41,455,511 (GRCm39)	D56G	probably damaging	Het
Myo1h	A	G	5: 114,498,571 (GRCm39)	D889G	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nab1	T	C	1: 52,529,174 (GRCm39)	D241G	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncbp3	C	T	11: 72,960,647 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,525,307 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,447,615 (GRCm39)	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,109,070 (GRCm39)	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597 (GRCm39)		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 142,526,889 (GRCm39)		probably benign	Het
Paox	T	A	7: 139,709,195 (GRCm39)		probably benign	Het
Pcdh15	T	A	10: 74,462,676 (GRCm39)		probably null	Het
Pde8b	G	A	13: 95,241,206 (GRCm39)	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814 (GRCm39)	V905D	probably benign	Het
Pik3cb	A	G	9: 98,926,796 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,139,998 (GRCm39)	N87S	probably benign	Het
Rfx7	T	C	9: 72,525,486 (GRCm39)	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf144b	T	A	13: 47,396,363 (GRCm39)	Y233*	probably null	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sbf2	T	C	7: 110,063,783 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,253 (GRCm39)	K85N	probably damaging	Het
Siglec1	A	T	2: 130,921,279 (GRCm39)	C631S	probably damaging	Het
Simc1	C	T	13: 54,684,913 (GRCm39)	R50*	probably null	Het
Skint5	T	A	4: 113,392,928 (GRCm39)	M1235L	unknown	Het
Slc22a19	A	T	19: 7,660,278 (GRCm39)	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,849,573 (GRCm39)	F852L	possibly damaging	Het
Spata31e3	A	G	13: 50,402,311 (GRCm39)		probably benign	Het
Srbd1	G	A	17: 86,427,430 (GRCm39)	S401F	probably damaging	Het
Stk36	C	A	1: 74,650,331 (GRCm39)	Q288K	probably damaging	Het
Styx	T	C	14: 45,609,908 (GRCm39)	S191P	probably benign	Het
Supt6	T	A	11: 78,107,164 (GRCm39)	N1214I	probably benign	Het
Tcim	T	A	8: 24,928,644 (GRCm39)	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,578,782 (GRCm39)	M1L	probably damaging	Het
Tep1	T	A	14: 51,085,141 (GRCm39)	T881S	probably benign	Het
Tlr5	C	T	1: 182,801,275 (GRCm39)	A193V	probably benign	Het
Tmem117	T	A	15: 94,612,800 (GRCm39)	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,651,375 (GRCm39)	R1633W	probably damaging	Het
Trh	T	C	6: 92,220,649 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,851,186 (GRCm39)	R447G	possibly damaging	Het
Trip6	A	G	5: 137,311,943 (GRCm39)	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp33	T	C	3: 152,081,872 (GRCm39)		probably benign	Het
Vmn2r60	A	T	7: 41,785,255 (GRCm39)	I156F	probably damaging	Het
Wdr17	T	C	8: 55,123,427 (GRCm39)		probably benign	Het
Wdr35	G	T	12: 9,077,472 (GRCm39)		probably benign	Het
Wwp1	C	T	4: 19,638,763 (GRCm39)		probably benign	Het
Zfp652	T	C	11: 95,654,475 (GRCm39)	C293R	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGACAAGTATCTCACAGACTCACTG -3'
(R):5'- TGCTCCTTCTGGTCTGATTAAAACCAC -3'

Sequencing Primer
(F):5'- CTGACCGAATATTAAAAAGCACAGG -3'
(R):5'- AAGCCACCGCTGTAAGTTG -3'

Posted On

2014-01-08