Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Rbbp6'

566801

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 #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122965686-123002557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123001194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1475 (K1475E)

Ref Sequence

ENSEMBL: ENSMUSP00000049528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052135] [ENSMUST00000071590] [ENSMUST00000205495] [ENSMUST00000231323]

AlphaFold

P97868

Predicted Effect

unknown
Transcript: ENSMUST00000052135
AA Change: K1475E

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: K1475E

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

unknown
Transcript: ENSMUST00000071590
AA Change: K1441E

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: K1441E

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 benign
Transcript: ENSMUST00000205495

Predicted Effect

unknown
Transcript: ENSMUST00000231323
AA Change: K1513E

Meta Mutation Damage Score

0.0861

Coding Region Coverage

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

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 120,207,883	T51S	probably benign	Het
Abcc1	A	G	16: 14,396,472	D204G	possibly damaging	Het
Acaa1b	C	T	9: 119,151,847	E172K	probably benign	Het
Adamts5	G	A	16: 85,899,918	T117I	probably benign	Het
Agmat	A	G	4: 141,746,964	E52G	possibly damaging	Het
Alg9	C	T	9: 50,779,061	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,209,168	I100T	possibly damaging	Het
Calm2	T	C	17: 87,442,737		probably null	Het
Cfap44	A	T	16: 44,481,412	M1838L	probably benign	Het
Cym	A	G	3: 107,219,693	Y49H	probably benign	Het
Dchs1	G	A	7: 105,755,131	R2735*	probably null	Het
Dnajc6	T	C	4: 101,606,611	I187T	probably benign	Het
Fam151a	G	T	4: 106,735,528	R69L	possibly damaging	Het
Gm13089	C	A	4: 143,698,505	D123Y	probably benign	Het
Gm14548	T	A	7: 3,895,265	I353F	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Gm9922	C	A	14: 101,729,525	G97V	unknown	Het
Hacl1	A	T	14: 31,616,486	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv1-82	A	T	12: 115,952,954	I6N	possibly damaging	Het
Kctd19	A	C	8: 105,382,984	V942G	probably benign	Het
Lce1l	C	T	3: 92,850,176	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,448	F42S	probably damaging	Het
Myom2	T	C	8: 15,098,411	L529P	probably damaging	Het
Nectin3	A	T	16: 46,448,396	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr1255	T	C	2: 89,816,521	F59S	probably damaging	Het
Olfr303	T	A	7: 86,394,923	T192S	probably damaging	Het
Otof	T	A	5: 30,388,270	I514F	probably damaging	Het
Plch1	G	T	3: 63,716,037	S603*	probably null	Het
Ppa1	T	A	10: 61,666,912	D171E	probably benign	Het
Prss34	T	C	17: 25,299,763	C240R	probably damaging	Het
Ptpre	A	G	7: 135,683,287	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,480,460	F157L	probably benign	Het
Retnlg	A	G	16: 48,872,874	N5D	probably benign	Het
Rev1	T	C	1: 38,053,104	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927	L360F	probably damaging	Het
Scrib	A	C	15: 76,064,761	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,621,320	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,662,144		probably benign	Het
Spag16	T	A	1: 69,919,426		probably null	Het
Stx3	C	T	19: 11,790,048	W87*	probably null	Het
Syngap1	T	A	17: 26,962,987	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,593,294	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,649,785	S54N	probably benign	Het
Tyk2	C	T	9: 21,108,860	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,915,416	V15A	probably benign	Het
Uhrf2	A	G	19: 30,088,549	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,800,771	I75N	probably benign	Het
Zfp346	T	G	13: 55,130,603	V258G	probably damaging	Het
Zfp72	T	A	13: 74,372,394	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,583,650	S848*	probably null	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
R7535:Rbbp6	UTSW	7	122990143	missense	probably benign	0.00
R7635:Rbbp6	UTSW	7	122976008	missense	possibly damaging	0.80
R7665:Rbbp6	UTSW	7	122994686	missense	possibly damaging	0.81
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'- ACTGCAGAAGCTTCCCAAGG -3'
(R):5'- CACATGGGCGTTTAGTTTCG -3'

Sequencing Primer
(F):5'- TCAAAGGGCAGTGCGTC -3'
(R):5'- AGGGGGCTTTATGATCATGAGGC -3'

Posted On

2019-06-26