Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Rbbp5'

36959

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

038622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132405103-132433397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132421582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 94 (I94R)

Ref Sequence

ENSEMBL: ENSMUSP00000027700 (fasta)

Gene Model

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

AlphaFold

Q8BX09

PDB Structure

WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE RECRUITED TO NOVEL SITE [X-RAY DIFFRACTION]
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE AND HISTONE H3 PEPTIDE [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027700
AA Change: I94R

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: I94R

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

possibly damaging
Transcript: ENSMUST00000187505
AA Change: I94R

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: I94R

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 benign
Transcript: ENSMUST00000190825
AA Change: I221R

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: I221R

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

possibly damaging
Transcript: ENSMUST00000190997
AA Change: I221R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: I221R

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

0.2678

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,991,050 (GRCm39)	V870A	probably benign	Het
Adam6b	A	T	12: 113,453,614 (GRCm39)	M144L	probably benign	Het
Adrb2	T	A	18: 62,312,610 (GRCm39)	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,740,674 (GRCm39)	H99L	probably damaging	Het
Ap4e1	C	T	2: 126,891,280 (GRCm39)	T17M	probably damaging	Het
Arnt	T	A	3: 95,377,705 (GRCm39)		probably benign	Het
Atp1a3	C	T	7: 24,680,052 (GRCm39)	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,729,826 (GRCm39)		probably benign	Het
Atp8a2	G	T	14: 60,011,193 (GRCm39)	T971K	probably damaging	Het
BC048562	A	T	9: 108,323,165 (GRCm39)	T167S	probably benign	Het
Brd9	A	G	13: 74,103,592 (GRCm39)	M491V	probably benign	Het
Btnl10	A	T	11: 58,814,277 (GRCm39)	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800 (GRCm38)	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,557,581 (GRCm39)		probably benign	Het
Ccm2l	A	T	2: 152,912,782 (GRCm39)	D107V	probably null	Het
Cep192	A	G	18: 67,946,964 (GRCm39)	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,984,238 (GRCm39)	N242T	probably benign	Het
Dnah17	A	G	11: 117,930,765 (GRCm39)	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,101,836 (GRCm39)	I231L	probably benign	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eya4	T	C	10: 23,031,861 (GRCm39)	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Fancd2	T	C	6: 113,513,940 (GRCm39)	L108P	probably damaging	Het
Fgf12	A	T	16: 27,981,281 (GRCm39)	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,357,654 (GRCm39)	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,412,047 (GRCm39)		probably benign	Het
Gm6434	T	A	7: 25,581,786 (GRCm39)		noncoding transcript	Het
Grik4	A	T	9: 42,533,392 (GRCm39)	L376*	probably null	Het
Gvin3	T	A	7: 106,203,090 (GRCm39)	L51F	probably damaging	Het
Gzf1	A	G	2: 148,525,753 (GRCm39)	T75A	probably benign	Het
Hcn1	T	C	13: 118,111,911 (GRCm39)	I625T	unknown	Het
Hhat	C	T	1: 192,235,242 (GRCm39)		probably null	Het
Ifit1bl1	T	C	19: 34,571,914 (GRCm39)	E181G	probably damaging	Het
Kif21a	T	C	15: 90,852,257 (GRCm39)		probably benign	Het
Lrrc45	A	C	11: 120,606,045 (GRCm39)	S118R	probably damaging	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Ms4a5	A	G	19: 11,261,018 (GRCm39)	L47S	probably damaging	Het
Mynn	A	T	3: 30,661,608 (GRCm39)	N230I	probably benign	Het
Nck2	T	C	1: 43,593,278 (GRCm39)	S162P	probably damaging	Het
Nfat5	T	C	8: 108,094,093 (GRCm39)	F259S	probably damaging	Het
Obox1	T	G	7: 15,290,178 (GRCm39)	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,470,772 (GRCm39)		probably null	Het
Pgbd1	A	T	13: 21,607,336 (GRCm39)	V286E	possibly damaging	Het
Phlpp2	T	C	8: 110,666,567 (GRCm39)	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,131,440 (GRCm39)	A318T	probably damaging	Het
Prex1	T	A	2: 166,431,491 (GRCm39)	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,742,595 (GRCm39)		probably null	Het
Rnpc3	A	G	3: 113,415,518 (GRCm39)	V173A	probably benign	Het
Sgsm1	A	T	5: 113,411,625 (GRCm39)	N700K	probably benign	Het
Slco1a8	T	G	6: 141,931,203 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,175 (GRCm39)	H188L	probably damaging	Het
Spmip11	A	G	15: 98,468,975 (GRCm39)	S17G	probably benign	Het
Supt5	T	A	7: 28,016,754 (GRCm39)		probably benign	Het
Synpo	A	G	18: 60,735,490 (GRCm39)	S819P	probably damaging	Het
Tenm2	A	G	11: 36,097,951 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,522,973 (GRCm39)	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,553,193 (GRCm39)	N83S	probably benign	Het
Tle6	T	C	10: 81,431,145 (GRCm39)		probably benign	Het
Tm2d2	T	G	8: 25,508,130 (GRCm39)	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,941,710 (GRCm39)	Q463H	probably benign	Het
Tmf1	A	G	6: 97,153,102 (GRCm39)	S324P	probably damaging	Het
Tnc	T	C	4: 63,918,396 (GRCm39)	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,489,746 (GRCm39)	C393S	probably benign	Het
Usp42	G	A	5: 143,700,616 (GRCm39)	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,389,183 (GRCm39)	M499R	probably benign	Het
Vps54	T	A	11: 21,261,071 (GRCm39)		probably benign	Het
Wdr6	C	T	9: 108,450,300 (GRCm39)	R1076H	probably benign	Het
Wdr72	T	A	9: 74,118,039 (GRCm39)	M917K	possibly damaging	Het
Wee2	T	C	6: 40,433,929 (GRCm39)	V281A	probably benign	Het
Zc3h6	A	G	2: 128,856,747 (GRCm39)	D609G	probably benign	Het
Zfp345	G	A	2: 150,315,163 (GRCm39)	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,685,236 (GRCm39)	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
R1540:Rbbp5	UTSW	1	132,422,020 (GRCm39)	nonsense	probably null
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'- TGGGCACTGAATCTTGGACATTCC -3'
(R):5'- GTCGGACTGGATGCCACTACATTG -3'

Sequencing Primer
(F):5'- GAATCTTGGACATTCCCAGTTTC -3'
(R):5'- GTGTTCCACGAACGCAATG -3'

Posted On

2013-05-09