Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02094:Rbbp6'

279528

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 #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

122568980-122601780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122596485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 676 (S676P)

Ref Sequence

ENSEMBL: ENSMUSP00000155989 (fasta)

Gene Model

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

AlphaFold

P97868

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052135
AA Change: S638P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: S638P

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: S638P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: S638P

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

noncoding transcript
Transcript: ENSMUST00000126053

Predicted Effect

probably benign
Transcript: ENSMUST00000205495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206967

Predicted Effect

probably damaging
Transcript: ENSMUST00000231323
AA Change: S676P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 56,324,480 (GRCm39)	N658S	possibly damaging	Het
Adcy10	T	C	1: 165,398,189 (GRCm39)	Y1429H	probably damaging	Het
Aebp1	G	A	11: 5,818,357 (GRCm39)	M98I	probably benign	Het
Arl3	T	C	19: 46,546,780 (GRCm39)	D15G	probably benign	Het
Casp2	T	A	6: 42,257,293 (GRCm39)	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,173,968 (GRCm39)	D229G	probably damaging	Het
Cog7	G	T	7: 121,562,470 (GRCm39)	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,041,631 (GRCm39)	T392S	probably benign	Het
Ebf2	G	A	14: 67,472,689 (GRCm39)	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,387,308 (GRCm39)	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,689,873 (GRCm39)	V171A	probably benign	Het
Itgax	A	G	7: 127,730,645 (GRCm39)	Y121C	probably damaging	Het
Kcng4	C	A	8: 120,359,960 (GRCm39)	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,153,275 (GRCm39)	T283K	probably damaging	Het
Mgl2	T	A	11: 70,027,923 (GRCm39)	I377K	possibly damaging	Het
Myo15a	T	C	11: 60,401,473 (GRCm39)		probably benign	Het
Nod1	A	T	6: 54,916,375 (GRCm39)		probably null	Het
Nr1h5	A	T	3: 102,859,512 (GRCm39)	C182*	probably null	Het
Nup210l	G	T	3: 90,087,520 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,546,589 (GRCm39)		probably benign	Het
Ptpn13	T	G	5: 103,742,483 (GRCm39)	F2401V	probably damaging	Het
Recql4	T	A	15: 76,593,717 (GRCm39)	Q131L	probably benign	Het
Sbno2	G	A	10: 79,893,479 (GRCm39)	P1274L	probably benign	Het
Sec24c	T	C	14: 20,738,470 (GRCm39)	V341A	probably damaging	Het
Smc1b	A	T	15: 84,982,092 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,050,659 (GRCm39)	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,957,202 (GRCm39)	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,625,334 (GRCm39)	D97E	probably damaging	Het
Trpm2	G	A	10: 77,778,830 (GRCm39)	Q379*	probably null	Het
Ttn	A	G	2: 76,649,167 (GRCm39)		probably benign	Het
Vmn2r74	A	T	7: 85,610,669 (GRCm39)	F8I	probably benign	Het
Zfp36	C	T	7: 28,077,188 (GRCm39)	S240N	probably benign	Het
Zfp65	A	G	13: 67,856,304 (GRCm39)	I325T	possibly 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
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
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

Posted On

2015-04-16