Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:Rb1cc1'

400253

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

042861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6284858-6346599 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 6319417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 35 (C35*)

Gene Model

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

AlphaFold

Q9ESK9

Predicted Effect

probably null
Transcript: ENSMUST00000027040
AA Change: C945*

SMART Domains

Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: C945*

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: ENSMUST00000159206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159802

Predicted Effect

probably null
Transcript: ENSMUST00000161327
AA Change: C824*

SMART Domains

Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: C824*

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: ENSMUST00000162257
AA Change: C35*

SMART Domains

Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907
AA Change: C35*

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

probably benign
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,496 (GRCm39)	K33R	possibly damaging	Het
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,313,424 (GRCm39)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Syngr1	T	A	15: 79,982,240 (GRCm39)	M9K	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,414,894 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Znrf1	T	G	8: 112,335,976 (GRCm39)	M159R	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
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'- CTTGATGCTCTAGTAAAAGACAGTG -3'
(R):5'- AGCATCTGGTCAATTCTTTGCTG -3'

Sequencing Primer
(F):5'- GTATCCCTTGAAGAGGCTT -3'
(R):5'- CTCCAAAGACATATTGTGGTCTGTC -3'

Posted On

2016-07-06