Mutagenetix > Incidental Mutation

Incidental Mutation 'R7031:Rb1cc1'

546300

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

045132-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6284858-6346599 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 6308690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000159906] [ENSMUST00000160062] [ENSMUST00000160871] [ENSMUST00000162795]

AlphaFold

Q9ESK9

Predicted Effect

probably null
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

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

probably null
Transcript: ENSMUST00000161327

SMART Domains

Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907

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 null
Transcript: ENSMUST00000162795

SMART Domains

Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907

Domain	Start	End	E-Value	Type
SCOP:d1euvb_	1	51	2e-4	SMART
Blast:UBQ	3	76	4e-12	BLAST
low complexity region	454	469	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	641	657	N/A	INTRINSIC
coiled coil region	842	865	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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 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
4931414P19Rik	T	C	14: 54,833,058 (GRCm39)	N39S	probably benign	Het
Abca13	C	T	11: 9,571,892 (GRCm39)	R4818C	probably damaging	Het
Acadsb	A	G	7: 131,045,366 (GRCm39)	I433V	probably benign	Het
Acsl3	T	A	1: 78,666,000 (GRCm39)	I142N	probably benign	Het
Api5	G	A	2: 94,255,961 (GRCm39)	T242M	probably benign	Het
Brme1	C	A	8: 84,893,313 (GRCm39)	P160Q	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,323 (GRCm39)	E37G	probably damaging	Het
Cfap96	T	C	8: 46,421,140 (GRCm39)	I128V	probably benign	Het
Cntnap4	C	A	8: 113,584,874 (GRCm39)	Q1104K	probably benign	Het
Cry1	A	G	10: 84,984,526 (GRCm39)	S183P	probably benign	Het
Cuzd1	A	T	7: 130,910,580 (GRCm39)	F572I	probably benign	Het
Dcbld1	A	T	10: 52,166,985 (GRCm39)	D104V	probably damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dhx15	T	C	5: 52,341,931 (GRCm39)	D129G	probably benign	Het
Drd3	T	A	16: 43,582,861 (GRCm39)	V86E	probably damaging	Het
Ebf1	A	G	11: 44,512,795 (GRCm39)	T135A	possibly damaging	Het
Epha5	T	C	5: 84,290,159 (GRCm39)	I428V	probably benign	Het
Epx	T	A	11: 87,766,349 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,627,227 (GRCm39)	N305K	probably benign	Het
Gchfr	T	A	2: 119,000,236 (GRCm39)	V39D	probably benign	Het
Ggnbp2	A	G	11: 84,751,467 (GRCm39)	L111P	probably damaging	Het
Gnal	G	A	18: 67,355,659 (GRCm39)	G340D	probably damaging	Het
Gpat2	A	G	2: 127,277,395 (GRCm39)	E745G	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,045 (GRCm39)	R438C	probably damaging	Het
Hmgxb4	C	T	8: 75,756,200 (GRCm39)	Q171*	probably null	Het
Igkv4-91	G	T	6: 68,745,542 (GRCm39)	R119S	possibly damaging	Het
Ing2	T	C	8: 48,121,858 (GRCm39)	D230G	probably benign	Het
Itfg2	A	G	6: 128,393,017 (GRCm39)	V82A	probably damaging	Het
Klhl22	T	C	16: 17,594,890 (GRCm39)	S340P	probably damaging	Het
Lipm	A	T	19: 34,093,871 (GRCm39)	M263L	probably benign	Het
Ly96	A	T	1: 16,758,787 (GRCm39)	E19V	possibly damaging	Het
Mark1	C	T	1: 184,644,829 (GRCm39)	E376K	possibly damaging	Het
Mlip	T	A	9: 77,045,835 (GRCm39)	M375L	probably benign	Het
Mug1	A	T	6: 121,815,673 (GRCm39)	N26Y	probably benign	Het
Or2ad1	C	T	13: 21,327,170 (GRCm39)	S19N	probably benign	Het
Or55b3	T	A	7: 102,127,057 (GRCm39)	T7S	probably benign	Het
Or5m3	C	T	2: 85,838,939 (GRCm39)	A273V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rgs4	T	C	1: 169,571,336 (GRCm39)	T178A	probably benign	Het
Sel1l2	T	A	2: 140,182,043 (GRCm39)	K31N	possibly damaging	Het
Serpinf1	T	C	11: 75,301,022 (GRCm39)	R398G	probably damaging	Het
Sgo2b	C	T	8: 64,393,078 (GRCm39)	E120K	possibly damaging	Het
Stard9	T	C	2: 120,530,931 (GRCm39)	F2396S	possibly damaging	Het
Trgv6	G	A	13: 19,374,610 (GRCm39)	E25K	probably benign	Het
Trpc3	A	C	3: 36,675,459 (GRCm39)	I893S	probably benign	Het
Trpc4ap	C	A	2: 155,534,135 (GRCm39)	R31L	unknown	Het
Vat1l	A	G	8: 114,998,172 (GRCm39)	R239G	possibly damaging	Het
Vmn1r56	T	A	7: 5,199,261 (GRCm39)	R119*	probably null	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het
Zfp664	A	G	5: 124,963,070 (GRCm39)	T155A	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
R0020:Rb1cc1	UTSW	1	6,334,772 (GRCm39)	missense	possibly damaging	0.86
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
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'- CTGCTCTTTCTGTGAAGGGC -3'
(R):5'- GAAGAGCCTGAATCCCACAG -3'

Sequencing Primer
(F):5'- AGGGCTTGTCCATGATGAACATC -3'
(R):5'- TGAATCCCACAGCCGGAG -3'

Posted On

2019-05-13