Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Rbbp6'

382489

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122965686-123002557 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 122999808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145759 (fasta)

Gene Model

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

AlphaFold

P97868

Predicted Effect

unknown
Transcript: ENSMUST00000052135
AA Change: D1114G

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: D1114G

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: D1080G

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: D1080G

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

noncoding transcript
Transcript: ENSMUST00000206967

Predicted Effect

unknown
Transcript: ENSMUST00000231323
AA Change: D1152G

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,820,287	F655Y	probably damaging	Het
A730061H03Rik	C	T	14: 55,560,117		probably benign	Het
Acsf2	A	C	11: 94,569,329	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,280,924	R347S	probably benign	Het
Akap9	A	G	5: 3,961,466	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,308,013		probably benign	Het
Aqr	T	C	2: 114,113,351	H1102R	probably damaging	Het
Arrdc2	A	G	8: 70,837,518	V173A	probably benign	Het
Aspm	T	C	1: 139,478,010	V1545A	probably benign	Het
Bbs5	C	T	2: 69,647,234		probably benign	Het
Bnip2	A	G	9: 70,003,434	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,648,523	T1531A	probably damaging	Het
Cast	T	C	13: 74,807,823	K9R	probably benign	Het
Cfap46	A	T	7: 139,607,188		probably null	Het
Cfap57	G	T	4: 118,593,054	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,563,879	M339L	probably benign	Het
Dcst1	T	A	3: 89,357,803	T247S	probably benign	Het
Dnajc18	T	A	18: 35,683,319	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,249,012	T126A	probably benign	Het
Epha2	A	G	4: 141,321,705	E624G	probably damaging	Het
Erbb3	G	A	10: 128,572,448	H866Y	probably benign	Het
F13a1	C	T	13: 36,916,863		probably null	Het
Fgd3	T	A	13: 49,278,602	N392I	probably damaging	Het
Fgf7	A	T	2: 126,088,240	M98L	probably benign	Het
G2e3	T	A	12: 51,369,139	S553T	probably benign	Het
Glipr1	C	A	10: 111,993,506	E117*	probably null	Het
Gm11060	A	T	2: 105,093,783		probably benign	Het
Gm4787	A	G	12: 81,377,629	I585T	probably damaging	Het
Gm6055	A	T	14: 48,079,458		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gpt2	T	A	8: 85,519,439		probably benign	Het
Gtf2ird1	A	T	5: 134,357,831	Y345*	probably null	Het
Hmcn1	T	A	1: 150,819,449	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,726,754	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,469,569	T427I	probably benign	Het
Itpr3	A	T	17: 27,083,608	D80V	probably damaging	Het
Kif21a	G	T	15: 90,949,010	H1317N	probably benign	Het
Kif28	T	C	1: 179,698,644	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,147,071		noncoding transcript	Het
Klk11	C	T	7: 43,777,736	T148I	probably damaging	Het
Klkb1	T	A	8: 45,286,958	H99L	probably damaging	Het
Kpna6	A	C	4: 129,656,405		probably null	Het
Lama3	G	T	18: 12,552,826	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,208,471	L264*	probably null	Het
Map2	T	C	1: 66,413,505	V360A	probably benign	Het
Med13	A	T	11: 86,298,847	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,537,220	M162T	probably damaging	Het
Mppe1	T	G	18: 67,228,062	E208A	probably benign	Het
Msantd2	A	C	9: 37,489,379	K19T	possibly damaging	Het
Mylk3	A	G	8: 85,364,783	V131A	probably damaging	Het
Myocd	A	T	11: 65,183,473	S609T	possibly damaging	Het
Ncbp3	G	A	11: 73,053,529		probably null	Het
Neb	T	A	2: 52,246,859	L3203F	probably damaging	Het
Notch2	C	A	3: 98,139,633	T1756K	probably benign	Het
Nphp4	A	T	4: 152,537,793	R544W	probably damaging	Het
Olfr1179	T	G	2: 88,402,412	H174P	probably damaging	Het
Olfr368	A	T	2: 37,332,566	D273V	probably damaging	Het
Olfr402	A	T	11: 74,155,919	Y255F	probably benign	Het
Parp4	T	A	14: 56,589,898	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,682,372	Q639K	probably benign	Het
Pcnx2	A	G	8: 125,851,130	V936A	probably benign	Het
Pcsk7	T	A	9: 45,918,862	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,733,007	I188T	probably benign	Het
Pgs1	A	G	11: 118,005,519	R339G	probably benign	Het
Pik3r3	A	G	4: 116,286,191	I294V	probably benign	Het
Pik3r6	A	G	11: 68,539,945	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,820,409	V442A	probably benign	Het
Ppfibp1	T	A	6: 147,030,419		probably benign	Het
Ppp3ca	C	A	3: 136,935,049	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,023,325	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,680,103	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Ptprm	T	A	17: 66,678,067	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734	D236E	probably damaging	Het
Qars	T	C	9: 108,508,931	F107S	probably damaging	Het
Rptor	A	T	11: 119,821,640		probably benign	Het
Rtn4	T	A	11: 29,740,994	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,154,715	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630	T401M	probably benign	Het
Slc12a6	C	T	2: 112,358,525	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,584,450	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,307,701	V240D	probably damaging	Het
Snx9	G	A	17: 5,902,519		probably null	Het
Spred3	A	G	7: 29,167,824	V49A	probably damaging	Het
Tars	A	G	15: 11,390,391	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,671,147	V110A	probably benign	Het
Tfrc	T	G	16: 32,618,279	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,075,478		probably benign	Het
Txlnb	T	C	10: 17,838,969	V383A	probably damaging	Het
Utp20	C	A	10: 88,816,949	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,091,506	V397E	probably damaging	Het
Zdhhc12	G	A	2: 30,091,526	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,680,900		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
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	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'- AAAGTCTCCTCGGTCTGAGC -3'
(R):5'- ATGATGCAATCTTGTCCTTTTCTGG -3'

Sequencing Primer
(F):5'- GGTCTGAGCCGCCACTC -3'
(R):5'- GGGGTCCTTTCCAGCTTTTCAAC -3'

Posted On

2016-04-27