Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Rbbp5'

171625

Institutional Source

Beutler Lab

Gene Symbol

Rbbp5

Ensembl Gene

ENSMUSG00000026439

Gene Name

retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit

Synonyms

4933411J24Rik

MMRRC Submission

039579-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132405103-132433397 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 132422020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 307 (R307*)

Ref Sequence

ENSEMBL: ENSMUSP00000141003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027700] [ENSMUST00000187505] [ENSMUST00000188575] [ENSMUST00000189786] [ENSMUST00000190825] [ENSMUST00000190997]

AlphaFold

Q8BX09

Predicted Effect

probably null
Transcript: ENSMUST00000027700
AA Change: R180*

SMART Domains

Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: R180*

Domain	Start	End	E-Value	Type
WD40	14	52	2.31e-1	SMART
WD40	55	94	7.33e-7	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	8.29e-1	SMART
WD40	241	280	1.28e1	SMART
WD40	283	322	2.97e0	SMART
low complexity region	344	358	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187505
AA Change: R180*

SMART Domains

Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: R180*

Domain	Start	End	E-Value	Type
Blast:WD40	1	52	9e-13	BLAST
WD40	55	99	5.1e-3	SMART
WD40	114	153	7.9e-2	SMART
WD40	156	195	1.9e-2	SMART
low complexity region	217	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188575

SMART Domains

Protein: ENSMUSP00000140344
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
Blast:WD40	14	55	9e-9	BLAST
SCOP:d1gxra_	34	87	8e-8	SMART
Blast:WD40	58	107	8e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000189786

SMART Domains

Protein: ENSMUSP00000140790
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
WD40	1	27	1.2e0	SMART
WD40	30	69	4.6e-9	SMART
Blast:WD40	72	149	2e-32	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000190825
AA Change: R307*

SMART Domains

Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: R307*

Domain	Start	End	E-Value	Type
WD40	14	52	1.4e-3	SMART
WD40	55	94	4.6e-9	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	5.1e-3	SMART
WD40	241	280	7.9e-2	SMART
WD40	283	322	1.9e-2	SMART
low complexity region	344	358	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000190997
AA Change: R307*

SMART Domains

Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: R307*

Domain	Start	End	E-Value	Type
WD40	14	52	2.31e-1	SMART
WD40	55	94	7.33e-7	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	8.29e-1	SMART
WD40	241	280	1.28e1	SMART
WD40	283	322	2.97e0	SMART
low complexity region	344	358	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,574,384 (GRCm39)	C767R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap3d1	A	T	10: 80,551,775 (GRCm39)	I644N	probably benign	Het
Asb16	A	G	11: 102,163,402 (GRCm39)	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,784,638 (GRCm39)	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,338,749 (GRCm39)	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,347,865 (GRCm39)	D741V	probably damaging	Het
Caprin2	T	A	6: 148,777,969 (GRCm39)	T211S	probably benign	Het
Carmil1	T	C	13: 24,283,037 (GRCm39)	E89G	possibly damaging	Het
Casz1	T	A	4: 149,027,357 (GRCm39)		probably benign	Het
Catsperb	G	A	12: 101,378,589 (GRCm39)	R30Q	probably benign	Het
Ccdc102a	A	T	8: 95,634,341 (GRCm39)		probably null	Het
Ccdc110	G	T	8: 46,395,362 (GRCm39)	E418*	probably null	Het
Ccdc90b	C	T	7: 92,231,024 (GRCm39)	A210V	probably benign	Het
Cdadc1	G	T	14: 59,823,532 (GRCm39)	A320E	probably damaging	Het
Cdadc1	T	A	14: 59,823,541 (GRCm39)	Q317L	probably damaging	Het
Cep170	C	A	1: 176,567,498 (GRCm39)	W1396L	probably damaging	Het
Col4a6	T	C	X: 140,010,854 (GRCm39)	T129A	probably damaging	Het
Ctcfl	C	T	2: 172,954,141 (GRCm39)	D319N	probably benign	Het
Dclk1	T	C	3: 55,385,244 (GRCm39)	S45P	probably damaging	Het
Efcab3	T	C	11: 104,999,726 (GRCm39)	I5581T	probably benign	Het
Evi2	T	C	11: 79,406,412 (GRCm39)	I388V	probably benign	Het
Fbxl5	A	T	5: 43,915,978 (GRCm39)	V435E	possibly damaging	Het
Fig4	A	T	10: 41,064,582 (GRCm39)	M887K	possibly damaging	Het
Glt8d1	G	A	14: 30,733,549 (GRCm39)	V345I	probably benign	Het
Gm5709	T	C	3: 59,526,073 (GRCm39)		noncoding transcript	Het
Hsp90b1	A	G	10: 86,529,906 (GRCm39)	F264L	probably damaging	Het
Id3	A	G	4: 135,871,250 (GRCm39)	S21G	possibly damaging	Het
Ighe	T	A	12: 113,235,066 (GRCm39)	N365Y	unknown	Het
Il17rd	T	G	14: 26,821,915 (GRCm39)	M403R	probably damaging	Het
Ints10	A	G	8: 69,249,365 (GRCm39)		probably benign	Het
Kcnc4	T	A	3: 107,352,743 (GRCm39)		probably null	Het
Kctd19	A	G	8: 106,114,511 (GRCm39)	S517P	probably damaging	Het
Lama5	A	G	2: 179,821,944 (GRCm39)	F2964L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,990 (GRCm39)	K405R	probably benign	Het
Lyst	T	A	13: 13,809,686 (GRCm39)	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,560,273 (GRCm39)	L677P	probably benign	Het
Mrps27	T	A	13: 99,541,558 (GRCm39)	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,167,820 (GRCm39)	V146M	probably damaging	Het
Nlrp9b	T	A	7: 19,782,772 (GRCm39)	C895*	probably null	Het
Nod1	T	C	6: 54,920,960 (GRCm39)	T453A	probably benign	Het
Nodal	T	C	10: 61,258,764 (GRCm39)	V67A	probably damaging	Het
Ntsr1	T	C	2: 180,184,440 (GRCm39)	L381P	probably damaging	Het
Or13c25	T	C	4: 52,910,996 (GRCm39)	D266G	probably benign	Het
Or2b2b	T	A	13: 21,858,700 (GRCm39)	Q138L	probably benign	Het
Or9e1	T	A	11: 58,732,477 (GRCm39)	M179K	probably benign	Het
P2ry14	T	A	3: 59,022,686 (GRCm39)	K267M	probably benign	Het
Pcdh1	T	C	18: 38,322,779 (GRCm39)	N1018S	probably benign	Het
Pkn3	G	A	2: 29,974,703 (GRCm39)	V406I	probably damaging	Het
Prkcb	C	T	7: 122,226,916 (GRCm39)	T634I	probably damaging	Het
Psme2b	T	A	11: 48,836,209 (GRCm39)		probably null	Het
Ptgfrn	A	G	3: 100,967,970 (GRCm39)	I541T	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,307,746 (GRCm39)	V684A	probably benign	Het
Rcor1	T	A	12: 111,070,037 (GRCm39)		probably benign	Het
Rlbp1	C	T	7: 79,029,808 (GRCm39)	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,560,305 (GRCm39)	E581G	probably null	Het
Sars1	A	T	3: 108,340,461 (GRCm39)	V155E	probably benign	Het
Sec31a	G	C	5: 100,523,178 (GRCm39)	P569A	probably damaging	Het
Selenof	A	T	3: 144,300,685 (GRCm39)	K111*	probably null	Het
Serpinb7	C	T	1: 107,355,998 (GRCm39)	A7V	possibly damaging	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Snrpa1	T	A	7: 65,720,409 (GRCm39)	I204N	probably damaging	Het
Spry4	T	G	18: 38,734,740 (GRCm39)		probably benign	Het
Tcea2	A	G	2: 181,328,751 (GRCm39)	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,937,804 (GRCm39)	F192S	probably benign	Het
Tnr	T	A	1: 159,677,675 (GRCm39)	I20N	probably damaging	Het
Ttll5	C	T	12: 85,938,982 (GRCm39)	Q427*	probably null	Het
Vps45	C	T	3: 95,955,658 (GRCm39)	A111T	probably damaging	Het
Zfp395	T	C	14: 65,630,523 (GRCm39)	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740 (GRCm39)	V766A	probably benign	Het

Other mutations in Rbbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Rbbp5	APN	1	132,417,444 (GRCm39)	missense	probably damaging	1.00
IGL01373:Rbbp5	APN	1	132,420,339 (GRCm39)	missense	probably benign	0.07
IGL01577:Rbbp5	APN	1	132,420,393 (GRCm39)	missense	possibly damaging	0.68
IGL01728:Rbbp5	APN	1	132,425,818 (GRCm39)	missense	probably benign
R0097:Rbbp5	UTSW	1	132,418,227 (GRCm39)	missense	possibly damaging	0.81
R0420:Rbbp5	UTSW	1	132,421,582 (GRCm39)	missense	possibly damaging	0.88
R1965:Rbbp5	UTSW	1	132,422,035 (GRCm39)	missense	probably damaging	1.00
R2419:Rbbp5	UTSW	1	132,421,564 (GRCm39)	missense	possibly damaging	0.95
R2924:Rbbp5	UTSW	1	132,420,401 (GRCm39)	critical splice donor site	probably null
R3810:Rbbp5	UTSW	1	132,420,325 (GRCm39)	missense	probably damaging	0.98
R3811:Rbbp5	UTSW	1	132,420,325 (GRCm39)	missense	probably damaging	0.98
R4234:Rbbp5	UTSW	1	132,412,496 (GRCm39)	missense	probably benign	0.08
R5024:Rbbp5	UTSW	1	132,418,226 (GRCm39)	missense	possibly damaging	0.65
R5166:Rbbp5	UTSW	1	132,418,303 (GRCm39)	missense	possibly damaging	0.60
R5435:Rbbp5	UTSW	1	132,422,013 (GRCm39)	missense	probably damaging	1.00
R6018:Rbbp5	UTSW	1	132,422,078 (GRCm39)	missense	probably damaging	1.00
R6172:Rbbp5	UTSW	1	132,424,554 (GRCm39)	missense	possibly damaging	0.89
R7500:Rbbp5	UTSW	1	132,421,879 (GRCm39)	missense	probably benign	0.35
R9155:Rbbp5	UTSW	1	132,422,023 (GRCm39)	missense	probably damaging	1.00
R9168:Rbbp5	UTSW	1	132,417,464 (GRCm39)	missense	probably benign	0.28
R9273:Rbbp5	UTSW	1	132,420,304 (GRCm39)	missense	probably benign	0.00
X0019:Rbbp5	UTSW	1	132,417,436 (GRCm39)	missense	probably damaging	1.00
X0025:Rbbp5	UTSW	1	132,417,396 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGGGAAAAGAGCATTGGCAACC -3'
(R):5'- ACTAAGGACACCCCTCTGAAGTGAC -3'

Sequencing Primer
(F):5'- CATTGGCAACCTGGTGAAG -3'
(R):5'- TTAGCCTACAAGGATCAGATGC -3'

Posted On

2014-04-13