Mutagenetix > Incidental Mutation

Incidental Mutation 'R7910:Rbbp6'

610438

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

045959-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7910 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122568980-122601780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122596251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 560 (V560I)

Ref Sequence

ENSEMBL: ENSMUSP00000049528 (fasta)

Gene Model

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

AlphaFold

P97868

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052135
AA Change: V560I

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: V560I

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: V560I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: V560I

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

probably damaging
Transcript: ENSMUST00000231323
AA Change: V598I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	T	6: 65,930,289 (GRCm39)	T175S	probably benign	Het
Abca13	A	G	11: 9,531,590 (GRCm39)	I4606V	probably damaging	Het
Abca3	G	A	17: 24,604,827 (GRCm39)	V645I	probably benign	Het
Abi3bp	A	T	16: 56,498,105 (GRCm39)	R980*	probably null	Het
Acsl6	G	T	11: 54,236,797 (GRCm39)	G564*	probably null	Het
Alppl2	T	C	1: 87,015,159 (GRCm39)	E430G	probably benign	Het
Anks1b	A	G	10: 90,516,654 (GRCm39)	Y883C	probably damaging	Het
Atp11b	T	C	3: 35,885,652 (GRCm39)	F882L	possibly damaging	Het
Atrn	T	A	2: 130,806,807 (GRCm39)	H609Q	probably benign	Het
Bcl2l13	A	T	6: 120,842,646 (GRCm39)	K113M	possibly damaging	Het
Brinp2	T	A	1: 158,074,450 (GRCm39)	N557I	probably damaging	Het
C4b	A	G	17: 34,959,326 (GRCm39)	L416P	probably benign	Het
Ccdc125	T	A	13: 100,819,327 (GRCm39)	I163K	possibly damaging	Het
Ccdc136	T	G	6: 29,420,033 (GRCm39)	D1075E	probably benign	Het
Cdc45	T	A	16: 18,629,203 (GRCm39)	Y47F	probably damaging	Het
Cdk10	T	C	8: 123,953,105 (GRCm39)	V36A	probably damaging	Het
Ciz1	T	A	2: 32,260,139 (GRCm39)		probably null	Het
Clasp1	T	G	1: 118,530,144 (GRCm39)	L1502*	probably null	Het
Crtc1	G	T	8: 70,840,251 (GRCm39)	Q541K	probably benign	Het
Ddx5	G	T	11: 106,675,261 (GRCm39)	T358N	probably damaging	Het
Ehbp1l1	A	T	19: 5,766,452 (GRCm39)	V1297E	probably benign	Het
Eif2d	C	A	1: 131,082,950 (GRCm39)	T98K	probably damaging	Het
Ezh2	T	C	6: 47,533,077 (GRCm39)	D124G	probably damaging	Het
Gamt	T	G	10: 80,094,243 (GRCm39)	I223L	possibly damaging	Het
Gbp7	T	C	3: 142,240,402 (GRCm39)	V40A	probably damaging	Het
Gm11992	A	G	11: 8,999,165 (GRCm39)	E7G	probably damaging	Het
Gml2	A	G	15: 74,692,379 (GRCm39)		probably null	Het
Grem2	A	G	1: 174,664,813 (GRCm39)	V12A	probably benign	Het
Gsta1	T	A	9: 78,139,577 (GRCm39)	I19N	probably damaging	Het
Gstt2	T	C	10: 75,667,736 (GRCm39)	I240V	probably benign	Het
Hectd4	T	C	5: 121,392,291 (GRCm39)	L185S	possibly damaging	Het
Hsd3b7	G	A	7: 127,400,419 (GRCm39)		probably null	Het
Ift22	T	A	5: 136,940,638 (GRCm39)	M101K	probably benign	Het
Irs1	A	G	1: 82,267,802 (GRCm39)	V138A	probably benign	Het
Ky	A	G	9: 102,419,141 (GRCm39)	M383V	possibly damaging	Het
Lama4	A	G	10: 38,946,005 (GRCm39)	E796G	probably damaging	Het
Lcp2	A	G	11: 34,038,061 (GRCm39)	Y426C	probably damaging	Het
Lig3	A	G	11: 82,688,601 (GRCm39)	D755G	probably damaging	Het
Lrrc43	A	G	5: 123,639,084 (GRCm39)	D371G	probably benign	Het
Lrrc43	T	A	5: 123,630,470 (GRCm39)	I111N	probably damaging	Het
Lrrc74b	C	A	16: 17,376,213 (GRCm39)	G146*	probably null	Het
Lrrfip1	A	G	1: 91,047,874 (GRCm39)	K479E	possibly damaging	Het
Lrriq1	C	A	10: 103,051,055 (GRCm39)	E566*	probably null	Het
Mlxipl	C	T	5: 135,161,263 (GRCm39)	A394V	possibly damaging	Het
Myh14	T	C	7: 44,281,819 (GRCm39)	Y813C	probably damaging	Het
Nat10	T	A	2: 103,555,490 (GRCm39)	E943D	probably benign	Het
Nectin2	T	A	7: 19,466,912 (GRCm39)	K226*	probably null	Het
Nlrc5	T	G	8: 95,219,720 (GRCm39)	S1103R	probably benign	Het
Nr4a1	T	A	15: 101,169,641 (GRCm39)	Y304N	probably damaging	Het
Ntpcr	T	C	8: 126,474,483 (GRCm39)	V184A	probably benign	Het
Or1j13	T	A	2: 36,369,345 (GRCm39)	N266Y	probably damaging	Het
Or5p73	T	C	7: 108,064,978 (GRCm39)	V149A	probably benign	Het
Or5t18	A	G	2: 86,637,191 (GRCm39)	S51P	probably benign	Het
Oxr1	A	C	15: 41,517,030 (GRCm39)	S65R	possibly damaging	Het
Pcdhb19	A	T	18: 37,630,720 (GRCm39)	I172L	probably benign	Het
Pds5a	A	T	5: 65,795,925 (GRCm39)	I655N	possibly damaging	Het
Pik3cg	T	C	12: 32,250,516 (GRCm39)	Y757C	probably benign	Het
Plekha5	C	A	6: 140,472,184 (GRCm39)	T37N	possibly damaging	Het
Ppp4r1	C	T	17: 66,136,394 (GRCm39)	A534V	probably damaging	Het
Ppp4r1	T	A	17: 66,118,298 (GRCm39)	F167I	probably benign	Het
Ppt2	T	A	17: 34,846,300 (GRCm39)		probably null	Het
Prrt2	A	T	7: 126,619,219 (GRCm39)	V82D	possibly damaging	Het
Rassf5	T	A	1: 131,108,366 (GRCm39)	Y338F	probably benign	Het
Rcbtb1	T	C	14: 59,474,127 (GRCm39)	M90T	unknown	Het
Rif1	T	A	2: 51,968,399 (GRCm39)	L194*	probably null	Het
Rybp	A	T	6: 100,209,879 (GRCm39)	I128K	possibly damaging	Het
Samm50	T	G	15: 84,098,346 (GRCm39)	F462V	possibly damaging	Het
Slain1	T	C	14: 103,923,200 (GRCm39)	Y264H	probably damaging	Het
Slc29a4	C	T	5: 142,691,156 (GRCm39)	P12L	probably benign	Het
Slc6a2	T	C	8: 93,720,766 (GRCm39)	I461T	possibly damaging	Het
Soat2	A	G	15: 102,069,106 (GRCm39)	D377G	probably damaging	Het
Spocd1	A	G	4: 129,823,893 (GRCm39)	E230G		Het
Tbc1d30	T	A	10: 121,183,061 (GRCm39)	K126*	probably null	Het
Tgfbi	T	A	13: 56,779,997 (GRCm39)	F515L	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r206	G	T	13: 22,804,471 (GRCm39)	Y245*	probably null	Het
Vmn1r87	T	A	7: 12,865,832 (GRCm39)	S152C	probably damaging	Het
Zfc3h1	C	A	10: 115,256,588 (GRCm39)	Y1519*	probably null	Het
Zfp248	A	T	6: 118,407,103 (GRCm39)	L162H	possibly damaging	Het
Zfp804a	T	A	2: 82,086,917 (GRCm39)	F249I	probably damaging	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
R1132:Rbbp6	UTSW	7	122,599,336 (GRCm39)	unclassified	probably benign
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
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'- CACCTTAACTGCATTTGTACTGGAG -3'
(R):5'- CCAAGGTGTTGATATATTGGCAGG -3'

Sequencing Primer
(F):5'- ACTGCATTTGTACTGGAGTAATTG -3'
(R):5'- GAGCTGGTGGAAACCCTG -3'

Posted On

2019-12-20