Mutagenetix > Incidental Mutations

Incidental Mutation 'R4869:Rb1cc1'

434629

Institutional Source

Beutler Lab

Gene Symbol

Rb1cc1

Ensembl Gene

ENSMUSG00000025907

Gene Name

RB1-inducible coiled-coil 1

Synonyms

Cc1, 2900055E04Rik, LaXp180, 5930404L04Rik, Fip200

MMRRC Submission

042479-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4869 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6206197-6276648 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 6215021 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000159906] [ENSMUST00000160062] [ENSMUST00000160871]

Predicted Effect

probably benign
Transcript: ENSMUST00000027040

SMART Domains

Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907

Domain	Start	End	E-Value	Type
SCOP:d1euvb_	1	51	7e-4	SMART
Blast:UBQ	3	76	8e-12	BLAST
low complexity region	471	486	N/A	INTRINSIC
low complexity region	643	653	N/A	INTRINSIC
low complexity region	658	674	N/A	INTRINSIC
coiled coil region	859	921	N/A	INTRINSIC
low complexity region	1033	1045	N/A	INTRINSIC
low complexity region	1055	1066	N/A	INTRINSIC
SCOP:d1eq1a_	1159	1305	1e-3	SMART
low complexity region	1374	1388	N/A	INTRINSIC
Pfam:ATG11	1447	1583	5.6e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097832

SMART Domains

Protein: ENSMUSP00000095443
Gene: ENSMUSG00000073741

Domain	Start	End	E-Value	Type
low complexity region	42	52	N/A	INTRINSIC
low complexity region	99	141	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159618

Predicted Effect

probably benign
Transcript: ENSMUST00000159906

SMART Domains

Protein: ENSMUSP00000125396
Gene: ENSMUSG00000025907

Domain	Start	End	E-Value	Type
SCOP:d1euvb_	1	51	5e-6	SMART
Blast:UBQ	3	76	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160062

Predicted Effect

probably benign
Transcript: ENSMUST00000160871

SMART Domains

Protein: ENSMUSP00000123768
Gene: ENSMUSG00000025907

Domain	Start	End	E-Value	Type
SCOP:d1euvb_	1	51	1e-5	SMART
Blast:UBQ	3	76	3e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191825

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration. [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
1700017B05Rik	C	A	9: 57,254,205	K943N	probably damaging	Het
Abca13	G	A	11: 9,315,434		probably null	Het
Ankub1	A	G	3: 57,690,330	L73P	probably damaging	Het
Birc6	A	G	17: 74,586,012	I982V	probably benign	Het
Cabyr	G	T	18: 12,751,818	*454L	probably null	Het
Ccdc57	C	T	11: 120,903,518		probably null	Het
Cd209c	A	G	8: 3,944,077	F128L	probably benign	Het
Cdh23	A	T	10: 60,376,934	I1566N	probably damaging	Het
Cdon	T	C	9: 35,452,904	V106A	possibly damaging	Het
Cebpa	G	T	7: 35,119,821	G135C	probably damaging	Het
Cfap65	A	G	1: 74,919,261	S896P	probably benign	Het
Ciz1	T	C	2: 32,364,235	S63P	probably damaging	Het
Clybl	G	A	14: 122,384,206	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,952,994	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,428,673		probably null	Het
Cyp2d10	G	A	15: 82,403,766	R379C	probably benign	Het
Dab2ip	C	A	2: 35,720,037	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dock1	A	T	7: 134,734,071	I65F	probably damaging	Het
Ercc2	T	C	7: 19,386,807	V155A	probably damaging	Het
Exph5	A	C	9: 53,376,239	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,377,477	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,862,731	A517E	probably damaging	Het
Furin	A	T	7: 80,396,979	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,792,459		probably benign	Het
Gabrg2	A	T	11: 41,920,404	S305T	probably damaging	Het
Gas6	G	T	8: 13,475,086	S299R	possibly damaging	Het
Gga3	G	T	11: 115,586,285		probably benign	Het
Gle1	A	G	2: 29,936,020	E37G	possibly damaging	Het
Gm6614	T	C	6: 141,987,766	D431G	probably damaging	Het
Gm7964	A	G	7: 83,756,142	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204		probably null	Het
Grid2	G	T	6: 64,429,740	G695W	probably damaging	Het
H2-M10.6	A	T	17: 36,812,533	M40L	probably benign	Het
Hectd4	G	T	5: 121,322,672	V905L	possibly damaging	Het
Isyna1	C	A	8: 70,596,762	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,242,032	S933L	probably benign	Het
Knl1	T	C	2: 119,072,351	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,796,398	E351G	probably damaging	Het
Lipo4	C	T	19: 33,501,553		probably null	Het
Llgl1	T	A	11: 60,707,210	L360*	probably null	Het
Map2k5	G	A	9: 63,322,243	R169*	probably null	Het
Muc19	A	T	15: 91,897,716		noncoding transcript	Het
Muc4	G	A	16: 32,754,836		probably benign	Het
Myh4	A	G	11: 67,252,664	E1074G	probably damaging	Het
Naip5	C	T	13: 100,245,131	G210E	probably damaging	Het
Nalcn	A	G	14: 123,599,884	S23P	probably benign	Het
Nepro	T	A	16: 44,730,173	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,924,093	C704Y	probably damaging	Het
Notch1	A	G	2: 26,471,179	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,795,582	E133G	possibly damaging	Het
Parp9	T	C	16: 35,956,904	L406S	probably damaging	Het
Peak1	G	T	9: 56,227,592	A155D	probably benign	Het
Piezo1	G	A	8: 122,487,545	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,395,362	V587A	probably benign	Het
Pkn2	A	G	3: 142,803,618	Y722H	probably damaging	Het
Plch2	A	T	4: 154,989,428	I834K	probably benign	Het
Pld1	A	G	3: 28,109,802	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,050,386	S103G	probably benign	Het
Ppl	T	C	16: 5,104,889	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,309,845		probably benign	Het
Prr14l	A	G	5: 32,828,833	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,689,805	K83*	probably null	Het
Rai1	T	C	11: 60,186,762	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,851,109	Q633L	probably damaging	Het
Rif1	T	A	2: 52,093,611		probably benign	Het
Rnf141	A	G	7: 110,825,350	Y101H	probably damaging	Het
Rnf219	A	G	14: 104,478,816	I707T	probably damaging	Het
Rttn	T	A	18: 89,043,014	L1102*	probably null	Het
Sall4	G	A	2: 168,755,717	S401F	probably damaging	Het
Sec11c	T	C	18: 65,801,470	I36T	probably benign	Het
Sel1l	A	G	12: 91,814,054		probably benign	Het
Setd1a	T	C	7: 127,797,604		probably benign	Het
Sez6l2	C	T	7: 126,961,842	P433L	probably benign	Het
Sgf29	T	C	7: 126,649,375		probably benign	Het
Slc47a1	A	G	11: 61,362,694	V305A	probably benign	Het
Sun2	T	C	15: 79,728,386		probably benign	Het
Tecta	T	C	9: 42,375,534	S609G	probably benign	Het
Tex45	G	A	8: 3,487,148	S498N	probably damaging	Het
Tmprss6	T	A	15: 78,443,680		probably null	Het
Tns1	T	C	1: 73,952,615	H968R	probably benign	Het
Tomm34	G	A	2: 164,054,717	A270V	probably damaging	Het
Tpo	T	C	12: 30,103,365	K330R	probably benign	Het
Ttn	T	A	2: 76,712,493	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,680,434	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691	R147H	probably benign	Het
Vps13d	A	G	4: 145,128,042	L2272P	probably damaging	Het
Wdfy3	A	G	5: 101,894,921	L1988P	probably damaging	Het
Wwc2	A	G	8: 47,920,678	F51S	probably damaging	Het
Zfp454	C	T	11: 50,873,153	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,288,293	V473E	probably damaging	Het
Zfp959	A	T	17: 55,897,228	R85S	possibly damaging	Het

Other mutations in Rb1cc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Rb1cc1	APN	1	6249506	missense	probably damaging	0.97
IGL00590:Rb1cc1	APN	1	6238296	missense	probably damaging	1.00
IGL00678:Rb1cc1	APN	1	6234085	missense	probably damaging	1.00
IGL00705:Rb1cc1	APN	1	6244133	missense	probably benign	0.00
IGL00957:Rb1cc1	APN	1	6249539	missense	probably damaging	1.00
IGL01363:Rb1cc1	APN	1	6250109	missense	probably benign	0.06
IGL01599:Rb1cc1	APN	1	6248771	nonsense	probably null
IGL01610:Rb1cc1	APN	1	6248481	missense	probably benign	0.03
IGL01929:Rb1cc1	APN	1	6240159	missense	possibly damaging	0.82
IGL01978:Rb1cc1	APN	1	6238368	missense	probably damaging	1.00
IGL02312:Rb1cc1	APN	1	6265623	critical splice donor site	probably null
IGL02471:Rb1cc1	APN	1	6240051	missense	probably benign	0.01
IGL02677:Rb1cc1	APN	1	6249419	missense	probably benign
IGL02702:Rb1cc1	APN	1	6240023	missense	probably damaging	0.99
IGL02816:Rb1cc1	APN	1	6262828	splice site	probably benign
IGL02899:Rb1cc1	APN	1	6264583	missense	probably damaging	1.00
fingerling	UTSW	1	6261032	missense	probably damaging	1.00
tots	UTSW	1	6245637	missense	probably damaging	0.99
IGL02988:Rb1cc1	UTSW	1	6247811	critical splice donor site	probably null
R0020:Rb1cc1	UTSW	1	6264548	missense	possibly damaging	0.86
R0254:Rb1cc1	UTSW	1	6262847	missense	probably damaging	1.00
R0390:Rb1cc1	UTSW	1	6248634	missense	probably damaging	1.00
R0466:Rb1cc1	UTSW	1	6263267	splice site	probably null
R0482:Rb1cc1	UTSW	1	6240323	missense	probably damaging	1.00
R0510:Rb1cc1	UTSW	1	6249171	missense	probably benign	0.00
R0512:Rb1cc1	UTSW	1	6248543	missense	probably damaging	1.00
R0616:Rb1cc1	UTSW	1	6244262	missense	possibly damaging	0.80
R0617:Rb1cc1	UTSW	1	6248790	missense	possibly damaging	0.83
R0837:Rb1cc1	UTSW	1	6234271	unclassified	probably null
R1399:Rb1cc1	UTSW	1	6249818	missense	probably benign	0.00
R1532:Rb1cc1	UTSW	1	6249734	missense	probably benign	0.00
R1542:Rb1cc1	UTSW	1	6244249	missense	possibly damaging	0.82
R1746:Rb1cc1	UTSW	1	6263013	splice site	probably null
R1764:Rb1cc1	UTSW	1	6214680	intron	probably benign
R1968:Rb1cc1	UTSW	1	6248195	splice site	probably null
R2025:Rb1cc1	UTSW	1	6245309	missense	probably damaging	1.00
R2076:Rb1cc1	UTSW	1	6250038	missense	possibly damaging	0.82
R2101:Rb1cc1	UTSW	1	6249335	missense	probably benign
R2249:Rb1cc1	UTSW	1	6272724	missense	probably damaging	1.00
R3176:Rb1cc1	UTSW	1	6249366	missense	probably benign
R3276:Rb1cc1	UTSW	1	6249366	missense	probably benign
R3716:Rb1cc1	UTSW	1	6270690	critical splice acceptor site	probably null
R3747:Rb1cc1	UTSW	1	6248742	missense	possibly damaging	0.92
R3850:Rb1cc1	UTSW	1	6250113	missense	probably benign	0.22
R3967:Rb1cc1	UTSW	1	6248270	splice site	probably benign
R3969:Rb1cc1	UTSW	1	6248270	splice site	probably benign
R3972:Rb1cc1	UTSW	1	6249000	missense	probably benign	0.00
R4166:Rb1cc1	UTSW	1	6265663	intron	probably benign
R4168:Rb1cc1	UTSW	1	6230024	missense	probably damaging	1.00
R4358:Rb1cc1	UTSW	1	6245637	missense	probably damaging	0.99
R4370:Rb1cc1	UTSW	1	6248547	missense	probably damaging	1.00
R4945:Rb1cc1	UTSW	1	6249627	missense	probably benign	0.24
R5111:Rb1cc1	UTSW	1	6214634	intron	probably benign
R5175:Rb1cc1	UTSW	1	6248321	missense	probably benign
R5196:Rb1cc1	UTSW	1	6234230	missense	probably damaging	0.99
R5271:Rb1cc1	UTSW	1	6249193	nonsense	probably null
R5341:Rb1cc1	UTSW	1	6215042	intron	probably benign
R5952:Rb1cc1	UTSW	1	6248182	missense	probably benign
R5992:Rb1cc1	UTSW	1	6233996	missense	probably damaging	1.00
R6054:Rb1cc1	UTSW	1	6249834	missense	probably benign	0.01
R6064:Rb1cc1	UTSW	1	6249734	missense	probably benign	0.00
R6313:Rb1cc1	UTSW	1	6244133	missense	probably benign	0.00
R6345:Rb1cc1	UTSW	1	6263257	missense	probably benign	0.00
R6488:Rb1cc1	UTSW	1	6270727	missense	probably damaging	0.97
R6566:Rb1cc1	UTSW	1	6249092	missense	probably benign	0.15
R6739:Rb1cc1	UTSW	1	6234230	missense	probably damaging	0.99
R6829:Rb1cc1	UTSW	1	6249264	missense	probably benign	0.04
R6945:Rb1cc1	UTSW	1	6261032	missense	probably damaging	1.00
R6976:Rb1cc1	UTSW	1	6262902	missense	probably benign	0.01
R7031:Rb1cc1	UTSW	1	6238466	critical splice donor site	probably null
R7066:Rb1cc1	UTSW	1	6250005	missense	possibly damaging	0.69
R7185:Rb1cc1	UTSW	1	6238383	missense	probably damaging	1.00
R7276:Rb1cc1	UTSW	1	6249192	missense	probably benign	0.13
R7448:Rb1cc1	UTSW	1	6245503	missense	probably damaging	1.00
R7463:Rb1cc1	UTSW	1	6249180	missense	probably benign
R7484:Rb1cc1	UTSW	1	6274217	missense	probably damaging	1.00
R7496:Rb1cc1	UTSW	1	6248191	missense	probably null	0.02
R7681:Rb1cc1	UTSW	1	6240323	missense	probably damaging	1.00
R7774:Rb1cc1	UTSW	1	6248085	missense	possibly damaging	0.63
R7780:Rb1cc1	UTSW	1	6248914	nonsense	probably null
Z1088:Rb1cc1	UTSW	1	6249018	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCCGAGTCGACAATAAC -3'
(R):5'- TACACCGATGCTTGCACTC -3'

Sequencing Primer
(F):5'- TGCCAAGCTCTCAGTGC -3'
(R):5'- GTCGGGACAAAGGCATCACC -3'

Posted On

2016-10-13