Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Rbbp6'

591862

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122965686-123002557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122994686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 514 (Y514H)

Ref Sequence

ENSEMBL: ENSMUSP00000049528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052135] [ENSMUST00000071590] [ENSMUST00000231323]

AlphaFold

P97868

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052135
AA Change: Y514H

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: Y514H

Domain	Start	End	E-Value	Type
DWNN	4	76	3.92e-42	SMART
low complexity region	101	110	N/A	INTRINSIC
ZnF_C2HC	161	177	5.67e-5	SMART
low complexity region	233	259	N/A	INTRINSIC
RING	260	300	6.05e-4	SMART
low complexity region	338	349	N/A	INTRINSIC
low complexity region	376	390	N/A	INTRINSIC
low complexity region	474	485	N/A	INTRINSIC
low complexity region	551	610	N/A	INTRINSIC
coiled coil region	653	679	N/A	INTRINSIC
low complexity region	680	774	N/A	INTRINSIC
low complexity region	824	844	N/A	INTRINSIC
low complexity region	929	943	N/A	INTRINSIC
low complexity region	1003	1025	N/A	INTRINSIC
internal_repeat_2	1026	1091	4.38e-6	PROSPERO
internal_repeat_1	1038	1107	3.76e-7	PROSPERO
low complexity region	1120	1141	N/A	INTRINSIC
low complexity region	1143	1154	N/A	INTRINSIC
low complexity region	1247	1258	N/A	INTRINSIC
internal_repeat_2	1395	1466	4.38e-6	PROSPERO
low complexity region	1472	1490	N/A	INTRINSIC
internal_repeat_1	1523	1586	3.76e-7	PROSPERO
low complexity region	1689	1752	N/A	INTRINSIC
low complexity region	1758	1784	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071590
AA Change: Y514H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: Y514H

Domain	Start	End	E-Value	Type
DWNN	4	76	3.92e-42	SMART
low complexity region	101	110	N/A	INTRINSIC
ZnF_C2HC	161	177	5.67e-5	SMART
low complexity region	233	259	N/A	INTRINSIC
RING	260	300	6.05e-4	SMART
low complexity region	338	349	N/A	INTRINSIC
low complexity region	376	390	N/A	INTRINSIC
low complexity region	474	485	N/A	INTRINSIC
low complexity region	551	610	N/A	INTRINSIC
low complexity region	653	740	N/A	INTRINSIC
low complexity region	790	810	N/A	INTRINSIC
low complexity region	895	909	N/A	INTRINSIC
low complexity region	969	991	N/A	INTRINSIC
internal_repeat_2	992	1057	5.65e-6	PROSPERO
internal_repeat_1	1004	1073	5.01e-7	PROSPERO
low complexity region	1086	1107	N/A	INTRINSIC
low complexity region	1109	1120	N/A	INTRINSIC
low complexity region	1213	1224	N/A	INTRINSIC
internal_repeat_2	1361	1432	5.65e-6	PROSPERO
low complexity region	1438	1456	N/A	INTRINSIC
internal_repeat_1	1489	1552	5.01e-7	PROSPERO
low complexity region	1655	1718	N/A	INTRINSIC
low complexity region	1724	1750	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231323
AA Change: Y552H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, reduced size, growth retardation and increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Rbbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Rbbp6	APN	7	122988685	missense	probably damaging	1.00
IGL00561:Rbbp6	APN	7	122971063	missense	probably damaging	1.00
IGL01144:Rbbp6	APN	7	122975946	missense	possibly damaging	0.95
IGL01325:Rbbp6	APN	7	122988618	missense	probably damaging	1.00
IGL01520:Rbbp6	APN	7	122985675	missense	possibly damaging	0.93
IGL01765:Rbbp6	APN	7	122999954	unclassified	probably benign
IGL01985:Rbbp6	APN	7	122971073	missense	probably damaging	1.00
IGL02094:Rbbp6	APN	7	122997262	missense	probably damaging	1.00
IGL02125:Rbbp6	APN	7	122971129	critical splice donor site	probably null
IGL02552:Rbbp6	APN	7	122982981	missense	probably damaging	0.98
IGL02805:Rbbp6	APN	7	123001188	utr 3 prime	probably benign
changeling	UTSW	7	122997311	splice site	probably null
Puzzlewit	UTSW	7	122999808	unclassified	probably benign
R0403:Rbbp6	UTSW	7	122992296	missense	probably damaging	0.99
R0855:Rbbp6	UTSW	7	122992248	missense	probably benign	0.22
R1132:Rbbp6	UTSW	7	123000113	unclassified	probably benign
R1463:Rbbp6	UTSW	7	122992453	missense	possibly damaging	0.89
R1867:Rbbp6	UTSW	7	122997029	missense	probably damaging	1.00
R1957:Rbbp6	UTSW	7	122990288	missense	probably benign	0.04
R1958:Rbbp6	UTSW	7	123001945	unclassified	probably benign
R1978:Rbbp6	UTSW	7	122999488	unclassified	probably benign
R1999:Rbbp6	UTSW	7	122990352	missense	probably damaging	0.98
R2164:Rbbp6	UTSW	7	122999474	unclassified	probably benign
R4181:Rbbp6	UTSW	7	122994735	missense	probably damaging	0.99
R4387:Rbbp6	UTSW	7	122997311	splice site	probably null
R4583:Rbbp6	UTSW	7	123001952	unclassified	probably benign
R4936:Rbbp6	UTSW	7	122999703	unclassified	probably benign
R4974:Rbbp6	UTSW	7	122999808	unclassified	probably benign
R4998:Rbbp6	UTSW	7	122990326	missense	probably benign	0.36
R5082:Rbbp6	UTSW	7	123000702	utr 3 prime	probably benign
R5502:Rbbp6	UTSW	7	122988724	missense	probably damaging	1.00
R5567:Rbbp6	UTSW	7	123001834	utr 3 prime	probably benign
R5570:Rbbp6	UTSW	7	123001834	utr 3 prime	probably benign
R5607:Rbbp6	UTSW	7	122997086	missense	probably damaging	1.00
R5608:Rbbp6	UTSW	7	122997086	missense	probably damaging	1.00
R5948:Rbbp6	UTSW	7	122997628	missense	probably damaging	1.00
R6134:Rbbp6	UTSW	7	122997311	splice site	probably null
R6172:Rbbp6	UTSW	7	122998555	nonsense	probably null
R6773:Rbbp6	UTSW	7	122999355	unclassified	probably benign
R6800:Rbbp6	UTSW	7	122985064	missense	possibly damaging	0.93
R7266:Rbbp6	UTSW	7	123001367	missense	unknown
R7298:Rbbp6	UTSW	7	123001194	missense	unknown
R7535:Rbbp6	UTSW	7	122990143	missense	probably benign	0.00
R7635:Rbbp6	UTSW	7	122976008	missense	possibly damaging	0.80
R7665:Rbbp6	UTSW	7	122990032	splice site	probably null
R7910:Rbbp6	UTSW	7	122997028	missense	possibly damaging	0.48
R7956:Rbbp6	UTSW	7	123001338	missense	unknown
R8043:Rbbp6	UTSW	7	122985245	missense	probably damaging	1.00
R8273:Rbbp6	UTSW	7	122990324	missense	probably benign	0.36
R8473:Rbbp6	UTSW	7	123001198	utr 3 prime	probably benign
R8679:Rbbp6	UTSW	7	123001293	missense	unknown
R8712:Rbbp6	UTSW	7	123001753	missense	unknown
R8802:Rbbp6	UTSW	7	122988457	intron	probably benign
R8911:Rbbp6	UTSW	7	122992045	missense	possibly damaging	0.53
R9152:Rbbp6	UTSW	7	123001474	missense	unknown
R9159:Rbbp6	UTSW	7	122990205	missense	probably damaging	0.99
R9308:Rbbp6	UTSW	7	122996998	missense	probably damaging	1.00
R9438:Rbbp6	UTSW	7	123000233	missense
R9509:Rbbp6	UTSW	7	122998568	missense	unknown
R9608:Rbbp6	UTSW	7	122992045	missense	possibly damaging	0.53
R9636:Rbbp6	UTSW	7	123001952	unclassified	probably benign
R9707:Rbbp6	UTSW	7	122989838	missense	probably damaging	1.00
X0062:Rbbp6	UTSW	7	123000146	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTAGATCTCCTCTGGAACAAC -3'
(R):5'- TGAGCATACATACCAACATGGG -3'

Sequencing Primer
(F):5'- CTCCTCTGGAACAACTTTTAAGAG -3'
(R):5'- CTGCATCTGGTAGGAATTAAACCTGG -3'

Posted On

2019-11-12