Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Rb1cc1'

592729

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

045747-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6284858-6346599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6310547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 315 (D315G)

Ref Sequence

ENSEMBL: ENSMUSP00000027040 (fasta)

Gene Model

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

AlphaFold

Q9ESK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027040
AA Change: D315G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: D315G

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: 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

SMART Domains

Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: D194G

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

possibly damaging
Transcript: ENSMUST00000162795
AA Change: D315G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: D315G

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: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	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
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
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'- TCATTTCACAAGTCAATGGAGCATG -3'
(R):5'- AATGCAAACCCTTTGAACTGC -3'

Sequencing Primer
(F):5'- GCATGTAGCTCCAGATCCC -3'
(R):5'- GAACTGCACTAAAAATTTACGCTC -3'

Posted On

2019-11-12