Mutagenetix > Incidental Mutations

Incidental Mutation 'R1978:Rbbp6'

222014

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

039991-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122965686-123002557 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 122999488 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: K1007N

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: K1007N

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: K973N

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: K973N

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: K1045N

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841	C191R	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
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	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
X0062:Rbbp6	UTSW	7	123000146	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTGAACCCAGAGCTACTG -3'
(R):5'- CATCCTTCTGAGAAGACGAGGAAG -3'

Sequencing Primer
(F):5'- CTACTGGAGACGTCTAGGAAATGC -3'
(R):5'- ACAGAGTCAATCTTTGTAGCCTC -3'

Posted On

2014-08-25