Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00823:Rbbp5'

13773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbbp5

Ensembl Gene

ENSMUSG00000026439

Gene Name

retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit

Synonyms

4933411J24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

132477365-132505659 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132489706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 88 (V88I)

Ref Sequence

ENSEMBL: ENSMUSP00000140790 (fasta)

Gene Model

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

AlphaFold

Q8BX09

Predicted Effect

probably benign
Transcript: ENSMUST00000027700

SMART Domains

Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439

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 benign
Transcript: ENSMUST00000187505

SMART Domains

Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439

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
AA Change: V74I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140344
Gene: ENSMUSG00000026439
AA Change: V74I

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 damaging
Transcript: ENSMUST00000189786
AA Change: V88I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140790
Gene: ENSMUSG00000026439
AA Change: V88I

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: V113I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: V113I

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 benign
Transcript: ENSMUST00000190997
AA Change: V113I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: V113I

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 76,878,534		probably benign	Het
Adam5	T	C	8: 24,818,742	E39G	probably benign	Het
Anapc7	G	A	5: 122,433,477	W205*	probably null	Het
Arhgap5	C	T	12: 52,518,742	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,940,378		probably benign	Het
Atg5	A	G	10: 44,363,044	T274A	probably benign	Het
Baiap2l2	G	T	15: 79,284,565		probably benign	Het
Brap	T	A	5: 121,665,227	M146K	probably damaging	Het
Brpf1	T	C	6: 113,321,886	S1074P	probably benign	Het
Camta1	A	C	4: 151,084,601	I231R	probably benign	Het
Ccdc15	C	T	9: 37,320,413	G205D	probably benign	Het
Cd6	G	T	19: 10,796,394		probably benign	Het
Cdh17	T	G	4: 11,783,412	S219R	possibly damaging	Het
Cgn	G	A	3: 94,767,209	R873W	probably damaging	Het
Ctnna3	C	T	10: 63,537,543	P41L	possibly damaging	Het
Dmbt1	T	C	7: 131,058,158	W484R	probably benign	Het
Dmd	A	G	X: 84,425,813		probably null	Het
Dnah17	C	T	11: 118,047,161	V3347I	probably benign	Het
Fam122b	A	T	X: 53,245,331	C222S	probably damaging	Het
Fgd5	T	A	6: 91,988,459	S400T	possibly damaging	Het
Kitl	C	A	10: 100,087,344		probably benign	Het
Lamc3	A	T	2: 31,918,521	D763V	probably damaging	Het
Lgmn	T	C	12: 102,398,176		probably benign	Het
Lpcat2	T	G	8: 92,864,970	W81G	possibly damaging	Het
Myh13	A	G	11: 67,355,947	I1165V	probably benign	Het
Nf1	A	G	11: 79,565,517	D599G	probably damaging	Het
Nin	T	C	12: 70,014,793	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,447,990	D77G	probably benign	Het
Otub1	A	G	19: 7,204,051		probably benign	Het
Pah	A	G	10: 87,570,331	Y174C	probably null	Het
Papd4	T	C	13: 93,186,397	T15A	probably benign	Het
Scn1a	C	T	2: 66,324,935	R560H	probably benign	Het
Snx5	T	C	2: 144,255,565	I217V	probably benign	Het
Syne2	T	C	12: 75,989,242	S3769P	probably damaging	Het
Tmem255b	T	C	8: 13,457,054	M261T	probably benign	Het
Top3b	T	C	16: 16,887,622	I417T	probably damaging	Het
Tspan2	T	C	3: 102,758,233		probably null	Het
Ttn	T	C	2: 76,709,713	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,911,443	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,659,995	D21G	probably damaging	Het
Yy2	A	C	X: 157,568,211	D186E	probably benign	Het

Other mutations in Rbbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Rbbp5	APN	1	132492601	missense	probably benign	0.07
IGL01577:Rbbp5	APN	1	132492655	missense	possibly damaging	0.68
IGL01728:Rbbp5	APN	1	132498080	missense	probably benign
R0097:Rbbp5	UTSW	1	132490489	missense	possibly damaging	0.81
R0420:Rbbp5	UTSW	1	132493844	missense	possibly damaging	0.88
R1540:Rbbp5	UTSW	1	132494282	nonsense	probably null
R1965:Rbbp5	UTSW	1	132494297	missense	probably damaging	1.00
R2419:Rbbp5	UTSW	1	132493826	missense	possibly damaging	0.95
R2924:Rbbp5	UTSW	1	132492663	critical splice donor site	probably null
R3810:Rbbp5	UTSW	1	132492587	missense	probably damaging	0.98
R3811:Rbbp5	UTSW	1	132492587	missense	probably damaging	0.98
R4234:Rbbp5	UTSW	1	132484758	missense	probably benign	0.08
R5024:Rbbp5	UTSW	1	132490488	missense	possibly damaging	0.65
R5166:Rbbp5	UTSW	1	132490565	missense	possibly damaging	0.60
R5435:Rbbp5	UTSW	1	132494275	missense	probably damaging	1.00
R6018:Rbbp5	UTSW	1	132494340	missense	probably damaging	1.00
R6172:Rbbp5	UTSW	1	132496816	missense	possibly damaging	0.89
R7500:Rbbp5	UTSW	1	132494141	missense	probably benign	0.35
R9155:Rbbp5	UTSW	1	132494285	missense	probably damaging	1.00
R9168:Rbbp5	UTSW	1	132489726	missense	probably benign	0.28
R9273:Rbbp5	UTSW	1	132492566	missense	probably benign	0.00
X0019:Rbbp5	UTSW	1	132489698	missense	probably damaging	1.00
X0025:Rbbp5	UTSW	1	132489658	missense	probably damaging	0.99

Posted On

2012-12-06