Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Rbbp6'

74230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbbp6

Ensembl Gene

ENSMUSG00000030779

Gene Name

retinoblastoma binding protein 6, ubiquitin ligase

Synonyms

C030034J04Rik, 4933422O15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

122965686-123002557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122988618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 270 (G270R)

Ref Sequence

ENSEMBL: ENSMUSP00000155989 (fasta)

Gene Model

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

AlphaFold

P97868

Predicted Effect

probably damaging
Transcript: ENSMUST00000052135
AA Change: G232R

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

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: G232R

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: G232R

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

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: G232R

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: ENSMUST00000098062

SMART Domains

Protein: ENSMUSP00000095670
Gene: ENSMUSG00000030779

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156738

Predicted Effect

probably damaging
Transcript: ENSMUST00000231323
AA Change: G270R

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

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 60,853,533	T127A	probably damaging	Het
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,064,102	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Asxl2	G	T	12: 3,427,172	R6L	probably damaging	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Fhod1	A	T	8: 105,331,649	M825K	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Kdm7a	T	G	6: 39,158,309		probably benign	Het
Krt76	A	T	15: 101,884,888	S572T	unknown	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	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
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
R1978:Rbbp6	UTSW	7	122999488	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
R9509:Rbbp6	UTSW	7	122998568	missense	unknown
R9608:Rbbp6	UTSW	7	122992045	missense	possibly damaging	0.53
R9636:Rbbp6	UTSW	7	123001952	unclassified	probably benign
R9707:Rbbp6	UTSW	7	122989838	missense	probably damaging	1.00
X0062:Rbbp6	UTSW	7	123000146	unclassified	probably benign

Posted On

2013-10-07