Mutagenetix > Incidental Mutation

Incidental Mutation 'R1132:Rbbp6'

94721

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

039205-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1132 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122568980-122601780 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 122599336 bp (GRCm39)

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: T1216A

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: T1216A

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: T1182A

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: T1182A

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: T1254A

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,894,917 (GRCm39)	V451A	possibly damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C3	C	T	17: 57,514,531 (GRCm39)		probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cd163	G	T	6: 124,286,055 (GRCm39)	G202*	probably null	Het
Cdk8	A	G	5: 146,236,625 (GRCm39)	T347A	probably benign	Het
Cep170	C	A	1: 176,577,603 (GRCm39)	R1257L	probably damaging	Het
Cib1	A	G	7: 79,877,778 (GRCm39)	F168S	probably damaging	Het
Cntnap5c	G	A	17: 58,601,351 (GRCm39)	G833D	probably damaging	Het
Dhx37	A	T	5: 125,498,103 (GRCm39)	I702N	probably damaging	Het
Dnah3	T	C	7: 119,538,227 (GRCm39)	K3586R	possibly damaging	Het
Fbxo31	ACGGCGCGGCG	ACGGCGCGGCGCGGCG	8: 122,279,015 (GRCm39)		probably null	Het
Fbxo31	CGCGG	CGCGGAGCGG	8: 122,279,019 (GRCm39)		probably null	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Gaa	T	C	11: 119,175,885 (GRCm39)	S953P	probably damaging	Het
Inpp5j	T	C	11: 3,452,305 (GRCm39)	E315G	possibly damaging	Het
Itsn2	T	C	12: 4,708,464 (GRCm39)	Y840H	probably damaging	Het
Kif1a	T	C	1: 92,983,743 (GRCm39)	E653G	probably damaging	Het
Loxhd1	T	C	18: 77,517,639 (GRCm39)	V1829A	possibly damaging	Het
Myh8	C	T	11: 67,187,957 (GRCm39)	Q910*	probably null	Het
Or12d12	T	C	17: 37,610,423 (GRCm39)	R297G	probably benign	Het
Or14a257	A	T	7: 86,138,425 (GRCm39)	F111L	probably benign	Het
Or14j4	G	T	17: 37,921,333 (GRCm39)	T103K	possibly damaging	Het
Or2ag17	A	T	7: 106,389,758 (GRCm39)	I150N	possibly damaging	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Rad50	T	C	11: 53,585,788 (GRCm39)	K331E	possibly damaging	Het
Selenbp1	C	G	3: 94,844,644 (GRCm39)	I100M	probably benign	Het
Skint6	A	G	4: 112,755,296 (GRCm39)		probably null	Het
Stac3	T	C	10: 127,343,128 (GRCm39)	S208P	probably benign	Het
Tfap2a	T	C	13: 40,874,867 (GRCm39)		probably null	Het
Trhde	T	C	10: 114,248,383 (GRCm39)	K939E	possibly damaging	Het
Vmn1r22	T	C	6: 57,877,826 (GRCm39)	I50M	probably benign	Het
Vmn1r39	C	T	6: 66,781,428 (GRCm39)	V260I	probably benign	Het
Zdhhc25	T	C	15: 88,484,926 (GRCm39)	L87P	probably damaging	Het
Zfp202	T	C	9: 40,122,318 (GRCm39)	L360P	probably benign	Het

Other mutations in Rbbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Rbbp6	APN	7	122,587,908 (GRCm39)	missense	probably damaging	1.00
IGL00561:Rbbp6	APN	7	122,570,286 (GRCm39)	missense	probably damaging	1.00
IGL01144:Rbbp6	APN	7	122,575,169 (GRCm39)	missense	possibly damaging	0.95
IGL01325:Rbbp6	APN	7	122,587,841 (GRCm39)	missense	probably damaging	1.00
IGL01520:Rbbp6	APN	7	122,584,898 (GRCm39)	missense	possibly damaging	0.93
IGL01765:Rbbp6	APN	7	122,599,177 (GRCm39)	unclassified	probably benign
IGL01985:Rbbp6	APN	7	122,570,296 (GRCm39)	missense	probably damaging	1.00
IGL02094:Rbbp6	APN	7	122,596,485 (GRCm39)	missense	probably damaging	1.00
IGL02125:Rbbp6	APN	7	122,570,352 (GRCm39)	critical splice donor site	probably null
IGL02552:Rbbp6	APN	7	122,582,204 (GRCm39)	missense	probably damaging	0.98
IGL02805:Rbbp6	APN	7	122,600,411 (GRCm39)	utr 3 prime	probably benign
changeling	UTSW	7	122,596,534 (GRCm39)	splice site	probably null
Puzzlewit	UTSW	7	122,599,031 (GRCm39)	unclassified	probably benign
R0403:Rbbp6	UTSW	7	122,591,519 (GRCm39)	missense	probably damaging	0.99
R0855:Rbbp6	UTSW	7	122,591,471 (GRCm39)	missense	probably benign	0.22
R1463:Rbbp6	UTSW	7	122,591,676 (GRCm39)	missense	possibly damaging	0.89
R1867:Rbbp6	UTSW	7	122,596,252 (GRCm39)	missense	probably damaging	1.00
R1957:Rbbp6	UTSW	7	122,589,511 (GRCm39)	missense	probably benign	0.04
R1958:Rbbp6	UTSW	7	122,601,168 (GRCm39)	unclassified	probably benign
R1978:Rbbp6	UTSW	7	122,598,711 (GRCm39)	unclassified	probably benign
R1999:Rbbp6	UTSW	7	122,589,575 (GRCm39)	missense	probably damaging	0.98
R2164:Rbbp6	UTSW	7	122,598,697 (GRCm39)	unclassified	probably benign
R4181:Rbbp6	UTSW	7	122,593,958 (GRCm39)	missense	probably damaging	0.99
R4387:Rbbp6	UTSW	7	122,596,534 (GRCm39)	splice site	probably null
R4583:Rbbp6	UTSW	7	122,601,175 (GRCm39)	unclassified	probably benign
R4936:Rbbp6	UTSW	7	122,598,926 (GRCm39)	unclassified	probably benign
R4974:Rbbp6	UTSW	7	122,599,031 (GRCm39)	unclassified	probably benign
R4998:Rbbp6	UTSW	7	122,589,549 (GRCm39)	missense	probably benign	0.36
R5082:Rbbp6	UTSW	7	122,599,925 (GRCm39)	utr 3 prime	probably benign
R5502:Rbbp6	UTSW	7	122,587,947 (GRCm39)	missense	probably damaging	1.00
R5567:Rbbp6	UTSW	7	122,601,057 (GRCm39)	utr 3 prime	probably benign
R5570:Rbbp6	UTSW	7	122,601,057 (GRCm39)	utr 3 prime	probably benign
R5607:Rbbp6	UTSW	7	122,596,309 (GRCm39)	missense	probably damaging	1.00
R5608:Rbbp6	UTSW	7	122,596,309 (GRCm39)	missense	probably damaging	1.00
R5948:Rbbp6	UTSW	7	122,596,851 (GRCm39)	missense	probably damaging	1.00
R6134:Rbbp6	UTSW	7	122,596,534 (GRCm39)	splice site	probably null
R6172:Rbbp6	UTSW	7	122,597,778 (GRCm39)	nonsense	probably null
R6773:Rbbp6	UTSW	7	122,598,578 (GRCm39)	unclassified	probably benign
R6800:Rbbp6	UTSW	7	122,584,287 (GRCm39)	missense	possibly damaging	0.93
R7266:Rbbp6	UTSW	7	122,600,590 (GRCm39)	missense	unknown
R7298:Rbbp6	UTSW	7	122,600,417 (GRCm39)	missense	unknown
R7535:Rbbp6	UTSW	7	122,589,366 (GRCm39)	missense	probably benign	0.00
R7635:Rbbp6	UTSW	7	122,575,231 (GRCm39)	missense	possibly damaging	0.80
R7665:Rbbp6	UTSW	7	122,589,255 (GRCm39)	splice site	probably null
R7665:Rbbp6	UTSW	7	122,593,909 (GRCm39)	missense	possibly damaging	0.81
R7910:Rbbp6	UTSW	7	122,596,251 (GRCm39)	missense	possibly damaging	0.48
R7956:Rbbp6	UTSW	7	122,600,561 (GRCm39)	missense	unknown
R8043:Rbbp6	UTSW	7	122,584,468 (GRCm39)	missense	probably damaging	1.00
R8273:Rbbp6	UTSW	7	122,589,547 (GRCm39)	missense	probably benign	0.36
R8473:Rbbp6	UTSW	7	122,600,421 (GRCm39)	utr 3 prime	probably benign
R8679:Rbbp6	UTSW	7	122,600,516 (GRCm39)	missense	unknown
R8712:Rbbp6	UTSW	7	122,600,976 (GRCm39)	missense	unknown
R8802:Rbbp6	UTSW	7	122,587,680 (GRCm39)	intron	probably benign
R8911:Rbbp6	UTSW	7	122,591,268 (GRCm39)	missense	possibly damaging	0.53
R9152:Rbbp6	UTSW	7	122,600,697 (GRCm39)	missense	unknown
R9159:Rbbp6	UTSW	7	122,589,428 (GRCm39)	missense	probably damaging	0.99
R9308:Rbbp6	UTSW	7	122,596,221 (GRCm39)	missense	probably damaging	1.00
R9438:Rbbp6	UTSW	7	122,599,456 (GRCm39)	missense
R9509:Rbbp6	UTSW	7	122,597,791 (GRCm39)	missense	unknown
R9608:Rbbp6	UTSW	7	122,591,268 (GRCm39)	missense	possibly damaging	0.53
R9636:Rbbp6	UTSW	7	122,601,175 (GRCm39)	unclassified	probably benign
R9707:Rbbp6	UTSW	7	122,589,061 (GRCm39)	missense	probably damaging	1.00
X0062:Rbbp6	UTSW	7	122,599,369 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCACTGGAACCCCTAGAAAAGC -3'
(R):5'- TGGTGTAATCCACAAGCGTGGAG -3'

Sequencing Primer
(F):5'- GGACTGTTCCAAAGACATCAAG -3'
(R):5'- AGCTGGAGCCTTCCGAC -3'

Posted On

2014-01-05