Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Rb1cc1'

705525

Institutional Source

Beutler Lab

Gene Symbol

Rb1cc1

Ensembl Gene

ENSMUSG00000025907

Gene Name

RB1-inducible coiled-coil 1

Synonyms

Fip200, 2900055E04Rik, 5930404L04Rik, Cc1, LaXp180

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6284858-6346599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6310539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 312 (N312K)

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: N312K

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

SMART Domains

Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: N312K

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: N191K

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: N312K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: N312K

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

0.5360

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,816 (GRCm39)	I84T	possibly damaging	Het
Adad2	G	T	8: 120,341,986 (GRCm39)	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,733 (GRCm39)	N208I	probably damaging	Het
Brsk1	G	T	7: 4,709,722 (GRCm39)		probably null	Het
Cd40	A	T	2: 164,912,667 (GRCm39)	Q235L	possibly damaging	Het
Cdcp3	A	T	7: 130,859,490 (GRCm39)	D1137V	unknown	Het
Cln6	T	C	9: 62,757,900 (GRCm39)	Y220H	probably damaging	Het
Cngb1	A	T	8: 96,010,794 (GRCm39)		probably null	Het
Cpne1	A	T	2: 155,919,723 (GRCm39)	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cyp4f15	A	G	17: 32,905,139 (GRCm39)	T41A	probably benign	Het
Dab1	T	C	4: 104,369,463 (GRCm39)		probably null	Het
Eif4e1b	C	A	13: 54,932,332 (GRCm39)	H56N	probably benign	Het
Elp3	A	T	14: 65,823,788 (GRCm39)	D78E	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Gabarap	T	A	11: 69,882,549 (GRCm39)	V4E	probably benign	Het
Gm5105	T	A	3: 137,755,418 (GRCm39)	D56V	unknown	Het
Gosr2	G	T	11: 103,574,693 (GRCm39)	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,589,215 (GRCm39)	V72A	possibly damaging	Het
Irx1	A	G	13: 72,107,416 (GRCm39)	V422A	probably benign	Het
Kcne4	C	A	1: 78,795,824 (GRCm39)	D157E	probably benign	Het
Kctd13	A	G	7: 126,541,345 (GRCm39)	N195S	probably damaging	Het
Kirrel1	A	G	3: 87,005,123 (GRCm39)	V75A	probably benign	Het
Klkb1	T	C	8: 45,722,983 (GRCm39)	T625A	probably benign	Het
Lama5	A	G	2: 179,838,275 (GRCm39)		probably null	Het
Lifr	A	G	15: 7,208,418 (GRCm39)	I599V	possibly damaging	Het
Lin52	A	T	12: 84,576,470 (GRCm39)	E101V	probably damaging	Het
Liph	T	C	16: 21,802,680 (GRCm39)	I130V	probably benign	Het
Liph	C	T	16: 21,774,913 (GRCm39)	R428Q	probably damaging	Het
Lrrc4c	A	C	2: 97,461,080 (GRCm39)	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,214,916 (GRCm39)	V78I	probably benign	Het
Msln	C	T	17: 25,971,990 (GRCm39)	D76N	probably benign	Het
Myh7b	A	G	2: 155,463,253 (GRCm39)	H495R	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfu1	T	C	6: 86,986,926 (GRCm39)	V15A	probably benign	Het
Nphp4	T	C	4: 152,608,714 (GRCm39)	S441P	probably damaging	Het
Nuak1	T	C	10: 84,214,090 (GRCm39)		probably null	Het
Or1j20	A	T	2: 36,760,405 (GRCm39)	I276F	probably damaging	Het
Or5h27	A	T	16: 59,006,106 (GRCm39)	C247S	unknown	Het
Or5w22	A	G	2: 87,362,358 (GRCm39)		probably benign	Het
Or8b3b	A	G	9: 38,583,925 (GRCm39)	S272P	probably damaging	Het
Palld	A	G	8: 61,978,189 (GRCm39)	V1109A	unknown	Het
Pik3c3	G	A	18: 30,445,666 (GRCm39)	R551H	probably benign	Het
Plcb1	G	A	2: 135,189,385 (GRCm39)	V838I	probably benign	Het
Plppr4	G	T	3: 117,119,518 (GRCm39)	T297K	probably damaging	Het
Ptprd	A	G	4: 76,051,320 (GRCm39)	I67T	probably benign	Het
Sh3glb1	A	C	3: 144,397,659 (GRCm39)		probably null	Het
Siglec1	C	T	2: 130,916,013 (GRCm39)	C1283Y	probably damaging	Het
Spns1	T	C	7: 125,972,995 (GRCm39)	I204V	probably damaging	Het
Sprr5	T	G	3: 92,440,397 (GRCm39)	Q14P	unknown	Het
Supt6	T	C	11: 78,116,284 (GRCm39)	Y693C	probably damaging	Het
Taar9	A	G	10: 23,985,152 (GRCm39)	V94A	probably damaging	Het
Tchp	T	C	5: 114,846,877 (GRCm39)	S55P	probably benign	Het
Tmem132b	A	G	5: 125,863,029 (GRCm39)	H678R	possibly damaging	Het
Tnr	G	C	1: 159,677,663 (GRCm39)	G16A	probably benign	Het
Top3b	T	C	16: 16,700,563 (GRCm39)		probably null	Het
Tpmt	A	G	13: 47,185,892 (GRCm39)		probably null	Het
Treh	G	A	9: 44,592,655 (GRCm39)	V87I	probably benign	Het
Ttc4	T	C	4: 106,535,963 (GRCm39)	D33G	probably benign	Het
Usp47	A	G	7: 111,703,257 (GRCm39)	D1171G	probably benign	Het
Vmn2r61	G	T	7: 41,950,092 (GRCm39)	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,288,440 (GRCm39)	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Zscan4b	C	A	7: 10,635,950 (GRCm39)	V126F	probably damaging	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
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
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'- CCTCATTTCACAAGTCAATGGAG -3'
(R):5'- ATGCAAACCCTTTGAACTGC -3'

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

Posted On

2022-03-25