Mutagenetix > Incidental Mutation

Incidental Mutation 'R7635:Rbbp6'

589884

Institutional Source

Beutler Lab

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

MMRRC Submission

045694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122568980-122601780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122575231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 80 (V80G)

Ref Sequence

ENSEMBL: ENSMUSP00000095670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052135] [ENSMUST00000071590] [ENSMUST00000098062] [ENSMUST00000148880] [ENSMUST00000231323]

AlphaFold

P97868

Predicted Effect

probably damaging
Transcript: ENSMUST00000052135
AA Change: V80G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: V80G

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

probably damaging
Transcript: ENSMUST00000071590
AA Change: V80G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: V80G

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

possibly damaging
Transcript: ENSMUST00000098062
AA Change: V80G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095670
Gene: ENSMUSG00000030779
AA Change: V80G

Domain	Start	End	E-Value	Type
DWNN	4	76	3.92e-42	SMART

Predicted Effect

silent
Transcript: ENSMUST00000148880

SMART Domains

Protein: ENSMUSP00000115530
Gene: ENSMUSG00000030779

Domain	Start	End	E-Value	Type
DWNN	4	76	3.92e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231323
AA Change: V80G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	C	9: 108,274,605 (GRCm39)	D236A	probably damaging	Het
Adamts7	C	T	9: 90,077,298 (GRCm39)	P1322S	probably damaging	Het
AI661453	A	T	17: 47,778,676 (GRCm39)	T801S	unknown	Het
Alpk1	A	G	3: 127,489,310 (GRCm39)	V123A	probably benign	Het
Ap2b1	T	C	11: 83,280,554 (GRCm39)	V827A	probably benign	Het
Aqp5	T	A	15: 99,492,059 (GRCm39)	I219N	probably benign	Het
Astn1	G	A	1: 158,495,105 (GRCm39)	W1051*	probably null	Het
Atp8b1	T	C	18: 64,706,376 (GRCm39)	D211G	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Bsn	A	G	9: 107,988,189 (GRCm39)	V2521A	unknown	Het
Car7	T	C	8: 105,275,069 (GRCm39)	V169A	probably damaging	Het
Catip	T	A	1: 74,408,121 (GRCm39)	D484E	unknown	Het
Ccdc18	T	C	5: 108,376,915 (GRCm39)		probably null	Het
Cdyl	T	C	13: 36,055,634 (GRCm39)	V518A	probably damaging	Het
Cep350	A	T	1: 155,754,767 (GRCm39)	C1949*	probably null	Het
Cinp	A	G	12: 110,850,447 (GRCm39)	V18A	possibly damaging	Het
Clec14a	A	G	12: 58,315,314 (GRCm39)	C103R	probably damaging	Het
Cplane1	A	G	15: 8,256,404 (GRCm39)	I1955V	probably benign	Het
Dnah8	G	C	17: 31,004,081 (GRCm39)	E3655Q	probably damaging	Het
Dnajc11	T	C	4: 152,053,068 (GRCm39)	I164T	probably damaging	Het
Dnajc13	A	T	9: 104,039,566 (GRCm39)	M2101K	probably benign	Het
Ephb4	A	G	5: 137,370,365 (GRCm39)	D864G	probably damaging	Het
Fads2b	T	A	2: 85,330,581 (GRCm39)	H242L	probably benign	Het
Fkbp5	T	C	17: 28,647,335 (GRCm39)	T167A	probably benign	Het
Foxf2	C	A	13: 31,810,087 (GRCm39)	P9T	unknown	Het
Frmpd2	C	A	14: 33,222,920 (GRCm39)	H105N	possibly damaging	Het
Gal3st3	C	A	19: 5,357,434 (GRCm39)	R270S	probably damaging	Het
Galnt13	A	G	2: 54,747,829 (GRCm39)	I237V	probably damaging	Het
Gata5	G	T	2: 179,975,790 (GRCm39)	Q125K	possibly damaging	Het
Gm10036	T	A	18: 15,966,346 (GRCm39)	F166I	possibly damaging	Het
Gon4l	A	G	3: 88,802,413 (GRCm39)	N1008S	probably benign	Het
Got1l1	G	A	8: 27,687,962 (GRCm39)	L356F	probably damaging	Het
Gse1	A	G	8: 121,299,634 (GRCm39)	E888G	unknown	Het
Hmx1	C	A	5: 35,549,583 (GRCm39)	P292Q	possibly damaging	Het
Igkv7-33	A	T	6: 70,036,138 (GRCm39)	S16T	probably benign	Het
Itga2b	C	T	11: 102,352,582 (GRCm39)	G424D	probably damaging	Het
Itga6	A	T	2: 71,673,577 (GRCm39)	K870N	probably benign	Het
Lama4	A	T	10: 38,968,184 (GRCm39)	Q1442L	probably benign	Het
Lamc1	C	T	1: 153,124,806 (GRCm39)	R655H	probably damaging	Het
Lclat1	C	T	17: 73,468,931 (GRCm39)	S37L	probably benign	Het
Lrp1b	A	G	2: 41,013,609 (GRCm39)		probably null	Het
Map3k20	T	C	2: 72,232,348 (GRCm39)	S335P	probably benign	Het
Micu3	A	G	8: 40,819,275 (GRCm39)	D318G	possibly damaging	Het
Mmp16	T	C	4: 18,054,382 (GRCm39)	I296T	probably benign	Het
Mmp20	A	T	9: 7,639,335 (GRCm39)	I168L	probably benign	Het
Mpp3	T	C	11: 101,916,209 (GRCm39)	K48E	probably damaging	Het
Muc5ac	A	T	7: 141,359,413 (GRCm39)	D1291V	probably damaging	Het
Muc5ac	A	T	7: 141,359,490 (GRCm39)	T1317S	possibly damaging	Het
Myl10	A	T	5: 136,729,718 (GRCm39)	M119L	probably benign	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nek10	G	A	14: 14,850,932 (GRCm38)	V326M	probably benign	Het
Or11l3	T	A	11: 58,515,990 (GRCm39)	E107D	unknown	Het
Or6c2	A	T	10: 129,362,551 (GRCm39)	M152L	probably benign	Het
Or6z1	G	A	7: 6,504,581 (GRCm39)	L221F	probably benign	Het
Pcnx1	A	G	12: 81,965,899 (GRCm39)	T161A		Het
Peg10	T	C	6: 4,754,938 (GRCm39)	S240P	probably damaging	Het
Pex6	G	A	17: 47,034,943 (GRCm39)	V822M	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Pld5	A	T	1: 175,821,416 (GRCm39)		probably null	Het
Plxna4	A	G	6: 32,473,676 (GRCm39)	V447A	probably damaging	Het
Pou2af1	T	C	9: 51,144,283 (GRCm39)	S66P	probably benign	Het
Pramel26	T	C	4: 143,536,987 (GRCm39)	E448G	probably damaging	Het
Prl2c2	T	C	13: 13,171,928 (GRCm39)	D147G	probably damaging	Het
Prune1	A	G	3: 95,162,596 (GRCm39)	L359P	probably damaging	Het
Rab4b	A	T	7: 26,875,642 (GRCm39)	V13E	probably damaging	Het
Reep5	C	T	18: 34,482,853 (GRCm39)	G119S	possibly damaging	Het
Rem1	G	C	2: 152,476,585 (GRCm39)	R281P	probably damaging	Het
Rnf215	C	T	11: 4,089,989 (GRCm39)	R309C	probably damaging	Het
Scn4a	C	A	11: 106,215,458 (GRCm39)	V1173F	probably damaging	Het
Serpine3	A	T	14: 62,910,464 (GRCm39)	I186F	possibly damaging	Het
Slc7a1	A	G	5: 148,289,046 (GRCm39)	V67A	probably damaging	Het
Smco2	A	T	6: 146,761,507 (GRCm39)	E142V	possibly damaging	Het
Spata25	G	A	2: 164,669,889 (GRCm39)	P41S	probably benign	Het
Specc1l	A	G	10: 75,112,638 (GRCm39)	D955G	probably damaging	Het
Spns3	C	T	11: 72,429,860 (GRCm39)		probably null	Het
Sptbn2	C	T	19: 4,794,235 (GRCm39)	R1480C	probably damaging	Het
Taf1a	T	C	1: 183,189,253 (GRCm39)		probably null	Het
Tas2r107	G	T	6: 131,636,563 (GRCm39)	T162K	possibly damaging	Het
Tcea1	T	C	1: 4,959,774 (GRCm39)	S139P	probably benign	Het
Tecta	C	T	9: 42,242,283 (GRCm39)	V2102I	probably benign	Het
Tmem131	A	T	1: 36,911,629 (GRCm39)	I106K	probably damaging	Het
Tpbpb	A	G	13: 61,049,925 (GRCm39)	V68A	probably benign	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Ttn	T	C	2: 76,580,021 (GRCm39)	N23624S	probably damaging	Het
Tut7	T	C	13: 59,947,904 (GRCm39)	K806E	probably benign	Het
Usp2	T	C	9: 43,978,519 (GRCm39)		probably null	Het
Vmn1r10	A	G	6: 57,091,026 (GRCm39)	H206R	probably benign	Het
Vmn1r234	T	C	17: 21,449,479 (GRCm39)	I131T	probably damaging	Het
Vwf	G	T	6: 125,659,697 (GRCm39)	R2632L		Het
Wdr36	T	C	18: 32,983,578 (GRCm39)	L443P	probably benign	Het
Zfp143	T	C	7: 109,688,025 (GRCm39)	V489A	probably benign	Het
Zfp383	G	A	7: 29,614,696 (GRCm39)	R317Q	probably damaging	Het
Zswim8	A	G	14: 20,766,368 (GRCm39)	T839A	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
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'- CCTATGCAAGACACGTGAATG -3'
(R):5'- AGCTCCCTCAACTATAAACTTTGC -3'

Sequencing Primer
(F):5'- CTATGCAAGACACGTGAATGTTGGTG -3'
(R):5'- AACTTTGCCTACTTAGCAAGGGG -3'

Posted On

2019-10-24