Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Rb1cc1'

201360

Institutional Source

Beutler Lab

Gene Symbol

Rb1cc1

Ensembl Gene

ENSMUSG00000025907

Gene Name

RB1-inducible coiled-coil 1

Synonyms

Fip200, 2900055E04Rik, 5930404L04Rik, Cc1, LaXp180

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6284858-6346599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6334772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1444 (N1444K)

Ref Sequence

ENSEMBL: ENSMUSP00000027040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000159530]

AlphaFold

Q9ESK9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027040
AA Change: N1444K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: N1444K

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: ENSMUST00000159349

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159530
AA Change: N86K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124220
Gene: ENSMUSG00000025907
AA Change: N86K

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
Pfam:ATG11	84	223	1.8e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161183

Predicted Effect

unknown
Transcript: ENSMUST00000161327
AA Change: N1323K

SMART Domains

Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: N1323K

Domain	Start	End	E-Value	Type
low complexity region	351	366	N/A	INTRINSIC
low complexity region	523	533	N/A	INTRINSIC
low complexity region	538	554	N/A	INTRINSIC
coiled coil region	738	800	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
low complexity region	935	946	N/A	INTRINSIC
SCOP:d1eq1a_	1039	1174	3e-3	SMART
low complexity region	1254	1268	N/A	INTRINSIC
Pfam:ATG11	1327	1463	6.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162257

SMART Domains

Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907

Domain	Start	End	E-Value	Type
coiled coil region	33	331	N/A	INTRINSIC
low complexity region	335	355	N/A	INTRINSIC
coiled coil region	363	483	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162418

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

99% (67/68)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	T	C	10: 67,383,927 (GRCm39)	D226G	probably benign	Het
Agfg2	C	T	5: 137,652,064 (GRCm39)	V432M	probably benign	Het
Atf2	T	C	2: 73,676,628 (GRCm39)	D122G	possibly damaging	Het
Brd10	A	T	19: 29,693,597 (GRCm39)	D2032E	probably damaging	Het
Cd2bp2	G	A	7: 126,792,996 (GRCm39)	T342M	probably damaging	Het
Cip2a	A	T	16: 48,821,975 (GRCm39)	H201L	probably damaging	Het
Col6a3	T	A	1: 90,739,272 (GRCm39)	I319F	probably damaging	Het
Cst11	T	A	2: 148,613,253 (GRCm39)	Y24F	probably damaging	Het
Cstb	T	A	10: 78,263,170 (GRCm39)	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,195,641 (GRCm39)	H352Y	probably benign	Het
D130043K22Rik	T	A	13: 25,038,475 (GRCm39)		probably benign	Het
Dbh	A	G	2: 27,060,584 (GRCm39)		probably benign	Het
Dhdh	T	C	7: 45,137,528 (GRCm39)	K53R	probably benign	Het
Drc3	A	G	11: 60,261,371 (GRCm39)	Y174C	probably damaging	Het
Ezr	G	T	17: 7,010,126 (GRCm39)	Q308K	probably damaging	Het
F3	A	T	3: 121,525,265 (GRCm39)	N169Y	probably damaging	Het
Fbn2	G	T	18: 58,238,236 (GRCm39)	T587K	probably damaging	Het
Fhl5	A	T	4: 25,200,054 (GRCm39)	V260E	probably benign	Het
Glyr1	A	G	16: 4,854,913 (GRCm39)	I55T	probably damaging	Het
Gm12695	G	C	4: 96,657,972 (GRCm39)	P66A	probably damaging	Het
Gon4l	G	T	3: 88,766,244 (GRCm39)	V428L	probably damaging	Het
Ighv6-5	T	C	12: 114,380,241 (GRCm39)	D92G	probably null	Het
Inhba	A	C	13: 16,200,949 (GRCm39)	K170N	possibly damaging	Het
Kng2	A	G	16: 22,816,046 (GRCm39)	V317A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Map3k14	T	C	11: 103,118,500 (GRCm39)	E562G	probably damaging	Het
Megf10	G	T	18: 57,420,965 (GRCm39)	V868F	possibly damaging	Het
Nap1l1	A	C	10: 111,326,884 (GRCm39)	E148D	probably benign	Het
Nlrp4a	A	T	7: 26,149,797 (GRCm39)	H468L	probably damaging	Het
Nphs1	G	T	7: 30,162,633 (GRCm39)	V357L	probably benign	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Pclo	A	G	5: 14,719,687 (GRCm39)	T1275A	unknown	Het
Pde4d	T	A	13: 110,091,104 (GRCm39)	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,825,765 (GRCm39)		probably benign	Het
Pkd2	A	G	5: 104,651,382 (GRCm39)	E910G	probably damaging	Het
Pot1b	T	A	17: 55,960,429 (GRCm39)	M634L	probably benign	Het
Ppp2r5c	C	T	12: 110,541,257 (GRCm39)	Q469*	probably null	Het
Ppp6r2	T	A	15: 89,143,342 (GRCm39)	M163K	probably damaging	Het
Prss43	C	A	9: 110,657,580 (GRCm39)		probably benign	Het
Rimoc1	T	C	15: 4,021,350 (GRCm39)		probably benign	Het
Scube2	A	G	7: 109,430,095 (GRCm39)		probably benign	Het
Slamf9	T	C	1: 172,303,082 (GRCm39)	S7P	possibly damaging	Het
Slc35b2	T	A	17: 45,877,782 (GRCm39)	M303K	probably damaging	Het
Slc4a7	T	A	14: 14,796,108 (GRCm38)	F1116I	probably benign	Het
Slco1a8	A	T	6: 141,918,076 (GRCm39)	V600E	possibly damaging	Het
Smarcad1	T	A	6: 65,060,991 (GRCm39)		probably benign	Het
Tamalin	T	C	15: 101,128,433 (GRCm39)	V157A	probably damaging	Het
Tns3	A	C	11: 8,495,227 (GRCm39)		probably null	Het
Zfp282	T	G	6: 47,856,943 (GRCm39)	W59G	probably damaging	Het
Zfp746	C	A	6: 48,041,641 (GRCm39)	A362S	probably benign	Het

Other mutations in Rb1cc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Rb1cc1	APN	1	6,319,730 (GRCm39)	missense	probably damaging	0.97
IGL00590:Rb1cc1	APN	1	6,308,520 (GRCm39)	missense	probably damaging	1.00
IGL00678:Rb1cc1	APN	1	6,304,309 (GRCm39)	missense	probably damaging	1.00
IGL00705:Rb1cc1	APN	1	6,314,357 (GRCm39)	missense	probably benign	0.00
IGL00957:Rb1cc1	APN	1	6,319,763 (GRCm39)	missense	probably damaging	1.00
IGL01363:Rb1cc1	APN	1	6,320,333 (GRCm39)	missense	probably benign	0.06
IGL01599:Rb1cc1	APN	1	6,318,995 (GRCm39)	nonsense	probably null
IGL01610:Rb1cc1	APN	1	6,318,705 (GRCm39)	missense	probably benign	0.03
IGL01929:Rb1cc1	APN	1	6,310,383 (GRCm39)	missense	possibly damaging	0.82
IGL01978:Rb1cc1	APN	1	6,308,592 (GRCm39)	missense	probably damaging	1.00
IGL02312:Rb1cc1	APN	1	6,335,847 (GRCm39)	critical splice donor site	probably null
IGL02471:Rb1cc1	APN	1	6,310,275 (GRCm39)	missense	probably benign	0.01
IGL02677:Rb1cc1	APN	1	6,319,643 (GRCm39)	missense	probably benign
IGL02702:Rb1cc1	APN	1	6,310,247 (GRCm39)	missense	probably damaging	0.99
IGL02816:Rb1cc1	APN	1	6,333,052 (GRCm39)	splice site	probably benign
IGL02899:Rb1cc1	APN	1	6,334,807 (GRCm39)	missense	probably damaging	1.00
fingerling	UTSW	1	6,331,256 (GRCm39)	missense	probably damaging	1.00
tots	UTSW	1	6,315,861 (GRCm39)	missense	probably damaging	0.99
IGL02988:Rb1cc1	UTSW	1	6,318,035 (GRCm39)	critical splice donor site	probably null
R0254:Rb1cc1	UTSW	1	6,333,071 (GRCm39)	missense	probably damaging	1.00
R0390:Rb1cc1	UTSW	1	6,318,858 (GRCm39)	missense	probably damaging	1.00
R0466:Rb1cc1	UTSW	1	6,333,491 (GRCm39)	splice site	probably null
R0482:Rb1cc1	UTSW	1	6,310,547 (GRCm39)	missense	probably damaging	1.00
R0510:Rb1cc1	UTSW	1	6,319,395 (GRCm39)	missense	probably benign	0.00
R0512:Rb1cc1	UTSW	1	6,318,767 (GRCm39)	missense	probably damaging	1.00
R0616:Rb1cc1	UTSW	1	6,314,486 (GRCm39)	missense	possibly damaging	0.80
R0617:Rb1cc1	UTSW	1	6,319,014 (GRCm39)	missense	possibly damaging	0.83
R0837:Rb1cc1	UTSW	1	6,304,495 (GRCm39)	splice site	probably null
R1399:Rb1cc1	UTSW	1	6,320,042 (GRCm39)	missense	probably benign	0.00
R1532:Rb1cc1	UTSW	1	6,319,958 (GRCm39)	missense	probably benign	0.00
R1542:Rb1cc1	UTSW	1	6,314,473 (GRCm39)	missense	possibly damaging	0.82
R1746:Rb1cc1	UTSW	1	6,333,237 (GRCm39)	splice site	probably null
R1764:Rb1cc1	UTSW	1	6,284,904 (GRCm39)	intron	probably benign
R1968:Rb1cc1	UTSW	1	6,318,419 (GRCm39)	splice site	probably null
R2025:Rb1cc1	UTSW	1	6,315,533 (GRCm39)	missense	probably damaging	1.00
R2076:Rb1cc1	UTSW	1	6,320,262 (GRCm39)	missense	possibly damaging	0.82
R2101:Rb1cc1	UTSW	1	6,319,559 (GRCm39)	missense	probably benign
R2249:Rb1cc1	UTSW	1	6,342,948 (GRCm39)	missense	probably damaging	1.00
R3176:Rb1cc1	UTSW	1	6,319,590 (GRCm39)	missense	probably benign
R3276:Rb1cc1	UTSW	1	6,319,590 (GRCm39)	missense	probably benign
R3716:Rb1cc1	UTSW	1	6,340,914 (GRCm39)	critical splice acceptor site	probably null
R3747:Rb1cc1	UTSW	1	6,318,966 (GRCm39)	missense	possibly damaging	0.92
R3850:Rb1cc1	UTSW	1	6,320,337 (GRCm39)	missense	probably benign	0.22
R3967:Rb1cc1	UTSW	1	6,318,494 (GRCm39)	splice site	probably benign
R3969:Rb1cc1	UTSW	1	6,318,494 (GRCm39)	splice site	probably benign
R3972:Rb1cc1	UTSW	1	6,319,224 (GRCm39)	missense	probably benign	0.00
R4166:Rb1cc1	UTSW	1	6,335,887 (GRCm39)	intron	probably benign
R4168:Rb1cc1	UTSW	1	6,300,248 (GRCm39)	missense	probably damaging	1.00
R4358:Rb1cc1	UTSW	1	6,315,861 (GRCm39)	missense	probably damaging	0.99
R4370:Rb1cc1	UTSW	1	6,318,771 (GRCm39)	missense	probably damaging	1.00
R4869:Rb1cc1	UTSW	1	6,285,245 (GRCm39)	intron	probably benign
R4945:Rb1cc1	UTSW	1	6,319,851 (GRCm39)	missense	probably benign	0.24
R5111:Rb1cc1	UTSW	1	6,284,858 (GRCm39)	intron	probably benign
R5175:Rb1cc1	UTSW	1	6,318,545 (GRCm39)	missense	probably benign
R5196:Rb1cc1	UTSW	1	6,304,454 (GRCm39)	missense	probably damaging	0.99
R5271:Rb1cc1	UTSW	1	6,319,417 (GRCm39)	nonsense	probably null
R5341:Rb1cc1	UTSW	1	6,285,266 (GRCm39)	intron	probably benign
R5952:Rb1cc1	UTSW	1	6,318,406 (GRCm39)	missense	probably benign
R5992:Rb1cc1	UTSW	1	6,304,220 (GRCm39)	missense	probably damaging	1.00
R6054:Rb1cc1	UTSW	1	6,320,058 (GRCm39)	missense	probably benign	0.01
R6064:Rb1cc1	UTSW	1	6,319,958 (GRCm39)	missense	probably benign	0.00
R6313:Rb1cc1	UTSW	1	6,314,357 (GRCm39)	missense	probably benign	0.00
R6345:Rb1cc1	UTSW	1	6,333,481 (GRCm39)	missense	probably benign	0.00
R6488:Rb1cc1	UTSW	1	6,340,951 (GRCm39)	missense	probably damaging	0.97
R6566:Rb1cc1	UTSW	1	6,319,316 (GRCm39)	missense	probably benign	0.15
R6739:Rb1cc1	UTSW	1	6,304,454 (GRCm39)	missense	probably damaging	0.99
R6829:Rb1cc1	UTSW	1	6,319,488 (GRCm39)	missense	probably benign	0.04
R6945:Rb1cc1	UTSW	1	6,331,256 (GRCm39)	missense	probably damaging	1.00
R6976:Rb1cc1	UTSW	1	6,333,126 (GRCm39)	missense	probably benign	0.01
R7031:Rb1cc1	UTSW	1	6,308,690 (GRCm39)	critical splice donor site	probably null
R7066:Rb1cc1	UTSW	1	6,320,229 (GRCm39)	missense	possibly damaging	0.69
R7185:Rb1cc1	UTSW	1	6,308,607 (GRCm39)	missense	probably damaging	1.00
R7276:Rb1cc1	UTSW	1	6,319,416 (GRCm39)	missense	probably benign	0.13
R7448:Rb1cc1	UTSW	1	6,315,727 (GRCm39)	missense	probably damaging	1.00
R7463:Rb1cc1	UTSW	1	6,319,404 (GRCm39)	missense	probably benign
R7484:Rb1cc1	UTSW	1	6,344,441 (GRCm39)	missense	probably damaging	1.00
R7496:Rb1cc1	UTSW	1	6,318,415 (GRCm39)	missense	probably null	0.02
R7618:Rb1cc1	UTSW	1	6,335,782 (GRCm39)	splice site	probably null
R7681:Rb1cc1	UTSW	1	6,310,547 (GRCm39)	missense	probably damaging	1.00
R7774:Rb1cc1	UTSW	1	6,318,309 (GRCm39)	missense	possibly damaging	0.63
R7780:Rb1cc1	UTSW	1	6,319,138 (GRCm39)	nonsense	probably null
R7947:Rb1cc1	UTSW	1	6,318,786 (GRCm39)	missense	probably damaging	1.00
R8057:Rb1cc1	UTSW	1	6,315,443 (GRCm39)	missense	probably damaging	1.00
R8094:Rb1cc1	UTSW	1	6,333,448 (GRCm39)	nonsense	probably null
R8527:Rb1cc1	UTSW	1	6,315,099 (GRCm39)	missense	probably damaging	1.00
R8758:Rb1cc1	UTSW	1	6,310,451 (GRCm39)	missense	probably benign	0.10
R8843:Rb1cc1	UTSW	1	6,315,395 (GRCm39)	missense	probably damaging	1.00
R8922:Rb1cc1	UTSW	1	6,319,194 (GRCm39)	missense	probably benign
R8937:Rb1cc1	UTSW	1	6,333,441 (GRCm39)	missense	probably benign
R9018:Rb1cc1	UTSW	1	6,319,490 (GRCm39)	missense	probably benign
R9106:Rb1cc1	UTSW	1	6,319,109 (GRCm39)	missense
R9127:Rb1cc1	UTSW	1	6,333,073 (GRCm39)	missense	probably damaging	1.00
R9130:Rb1cc1	UTSW	1	6,315,109 (GRCm39)	missense	probably damaging	0.99
R9311:Rb1cc1	UTSW	1	6,310,539 (GRCm39)	missense	probably damaging	1.00
R9365:Rb1cc1	UTSW	1	6,315,117 (GRCm39)	missense	probably damaging	1.00
R9563:Rb1cc1	UTSW	1	6,314,339 (GRCm39)	missense	probably benign
R9598:Rb1cc1	UTSW	1	6,310,189 (GRCm39)	missense	probably damaging	1.00
R9608:Rb1cc1	UTSW	1	6,318,528 (GRCm39)	missense	probably benign	0.02
R9659:Rb1cc1	UTSW	1	6,318,673 (GRCm39)	missense	probably benign	0.33
R9799:Rb1cc1	UTSW	1	6,315,126 (GRCm39)	missense	probably damaging	1.00
Z1088:Rb1cc1	UTSW	1	6,319,242 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- acaTCTATACAAACACATGCATAGACCACAC -3'
(R):5'- ACAAATGACAGGCCCTCTCAAATTAATCATAA -3'

Sequencing Primer
(F):5'- gctctttactctatctaacttgtcg -3'
(R):5'- AATGTTTTCCCCAGAGTCATCA -3'

Posted On

2014-06-02