Mutagenetix > Incidental Mutation

Incidental Mutation 'R8473:Rbbp6'

657122

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

067917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122568980-122601780 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 122600421 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: V1476A

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: V1476A

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: V1442A

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: V1442A

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: V1514A

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (33/33)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,513 (GRCm39)	D30G	unknown	Het
Acad12	T	C	5: 121,745,538 (GRCm39)	D251G	probably damaging	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Atg13	A	T	2: 91,518,993 (GRCm39)	L151M	probably damaging	Het
Atp5f1a	T	C	18: 77,867,625 (GRCm39)	F250L	probably damaging	Het
Blnk	T	C	19: 40,940,854 (GRCm39)	E183G	possibly damaging	Het
Csf3	T	C	11: 98,592,928 (GRCm39)	L97P	probably damaging	Het
Derl2	A	G	11: 70,910,035 (GRCm39)	Y10H	probably damaging	Het
Dgkb	A	G	12: 38,234,939 (GRCm39)	N435D	probably damaging	Het
Dpy19l2	C	A	9: 24,492,526 (GRCm39)	V691L	probably benign	Het
Exoc5	T	C	14: 49,256,860 (GRCm39)	S509G	probably null	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Fsip2	G	A	2: 82,777,336 (GRCm39)	G121D	probably damaging	Het
Gfm1	T	C	3: 67,361,051 (GRCm39)	S458P	possibly damaging	Het
Gm6882	A	T	7: 21,161,440 (GRCm39)	Y143N	probably damaging	Het
Grm5	T	A	7: 87,252,278 (GRCm39)	M176K	probably damaging	Het
Herc6	T	A	6: 57,624,099 (GRCm39)	V623D	probably damaging	Het
Hmcn1	G	T	1: 150,479,551 (GRCm39)	P4638T	possibly damaging	Het
Il27ra	A	G	8: 84,768,735 (GRCm39)	Y62H	probably benign	Het
Kcnh8	A	T	17: 53,285,320 (GRCm39)	S1097C	probably benign	Het
Kif19a	T	G	11: 114,678,377 (GRCm39)	S677A	probably damaging	Het
Lrrc37	T	C	11: 103,434,266 (GRCm39)	T792A	unknown	Het
Or8d4	T	C	9: 40,038,506 (GRCm39)	I250M	probably benign	Het
Pcdhgb7	T	A	18: 37,886,852 (GRCm39)	V674D	probably benign	Het
Pik3r6	A	G	11: 68,417,207 (GRCm39)	S50G	probably benign	Het
Ptpn12	T	C	5: 21,203,357 (GRCm39)	T474A	probably benign	Het
Scaper	T	C	9: 55,458,131 (GRCm39)	Y880C	probably damaging	Het
Smc5	A	T	19: 23,221,446 (GRCm39)	V361D	probably benign	Het
Stag1	T	A	9: 100,762,840 (GRCm39)	H480Q	probably damaging	Het
Tdpoz2	T	C	3: 93,559,153 (GRCm39)	E273G	probably damaging	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Tmx4	T	C	2: 134,451,444 (GRCm39)	T170A	probably benign	Het
Vmn1r59	A	T	7: 5,457,064 (GRCm39)	M232K	possibly damaging	Het
Wdr20rt	A	G	12: 65,273,380 (GRCm39)	D180G	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
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
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'- ACTGCAGAAGCTTCCCAAGG -3'
(R):5'- CACATGGGCGTTTAGTTTCG -3'

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

Posted On

2021-01-18