Incidental Mutation 'R6313:Rb1cc1'
ID 510498
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 044470-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6313 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 6284858-6346599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6314357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 343 (M343K)
Ref Sequence ENSEMBL: ENSMUSP00000027040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000162795]
AlphaFold Q9ESK9
Predicted Effect probably benign
Transcript: ENSMUST00000027040
AA Change: M343K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: M343K

DomainStartEndE-ValueType
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: ENSMUST00000159802
Predicted Effect unknown
Transcript: ENSMUST00000161327
AA Change: M222K
SMART Domains Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: M222K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: M343K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: M343K

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,126,344 (GRCm39) F1167L probably damaging Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Acaca C T 11: 84,183,755 (GRCm39) T32I probably benign Het
Adam6a A T 12: 113,508,670 (GRCm39) N348Y possibly damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arhgef38 T C 3: 132,940,469 (GRCm39) D39G possibly damaging Het
Arid5b T C 10: 67,933,412 (GRCm39) D587G possibly damaging Het
Brwd1 A G 16: 95,809,141 (GRCm39) V1963A probably benign Het
Ccdc136 T A 6: 29,410,204 (GRCm39) L34Q probably damaging Het
Cdh2 T C 18: 16,907,579 (GRCm39) Q53R probably benign Het
Celsr2 G A 3: 108,308,530 (GRCm39) S1799L probably damaging Het
Cenpe A G 3: 134,935,936 (GRCm39) E457G probably benign Het
Cmtm1 A T 8: 105,031,795 (GRCm39) M283K possibly damaging Het
Dcdc5 T C 2: 106,198,516 (GRCm39) noncoding transcript Het
Decr1 T A 4: 15,924,261 (GRCm39) M220L probably benign Het
Dgkg T G 16: 22,338,311 (GRCm39) D592A probably damaging Het
Dkkl1 T C 7: 44,860,862 (GRCm39) Q39R probably benign Het
Dyrk1a T A 16: 94,460,373 (GRCm39) C10S possibly damaging Het
Efcab2 A T 1: 178,308,936 (GRCm39) E146D probably benign Het
Efhc1 T C 1: 21,049,652 (GRCm39) V504A possibly damaging Het
Ermard T G 17: 15,273,467 (GRCm39) probably null Het
Espl1 T C 15: 102,224,247 (GRCm39) V1266A probably benign Het
Fbxw22 A C 9: 109,232,465 (GRCm39) V40G probably damaging Het
Gm3629 A T 14: 17,834,409 (GRCm39) I194N possibly damaging Het
Gnai2 C T 9: 107,497,296 (GRCm39) V33M possibly damaging Het
H2-DMb1 T C 17: 34,376,506 (GRCm39) probably null Het
Hc T C 2: 34,879,851 (GRCm39) probably null Het
Iars1 T C 13: 49,861,921 (GRCm39) S491P probably damaging Het
Knl1 T A 2: 118,899,799 (GRCm39) L500H probably damaging Het
Lamb1 A T 12: 31,319,146 (GRCm39) T102S probably damaging Het
Lrrc7 A G 3: 157,866,373 (GRCm39) S1123P probably damaging Het
Mettl5 C A 2: 69,702,071 (GRCm39) probably null Het
Mmp11 A G 10: 75,759,818 (GRCm39) *4R probably null Het
Myom1 A T 17: 71,389,483 (GRCm39) D911V probably benign Het
Nid1 A G 13: 13,638,367 (GRCm39) T96A probably benign Het
Nlrp4e G T 7: 23,052,597 (GRCm39) V839L probably benign Het
Notch3 A T 17: 32,370,128 (GRCm39) probably null Het
Or8k35 T C 2: 86,424,411 (GRCm39) T254A possibly damaging Het
Pcdh8 T C 14: 80,005,091 (GRCm39) H978R probably benign Het
Pde8b A T 13: 95,178,508 (GRCm39) C537* probably null Het
Polr1b T C 2: 128,967,366 (GRCm39) F920L probably damaging Het
Polr2f A G 15: 79,035,573 (GRCm39) T87A probably damaging Het
Pon2 T A 6: 5,272,421 (GRCm39) H133L probably damaging Het
Pou2af2 C T 9: 51,201,481 (GRCm39) D192N probably damaging Het
Ptk2b T A 14: 66,416,280 (GRCm39) E205V probably damaging Het
Rlf G A 4: 121,005,807 (GRCm39) R1058W probably damaging Het
S100z T A 13: 95,615,082 (GRCm39) K28* probably null Het
Scarf1 T A 11: 75,411,141 (GRCm39) N273K probably benign Het
Setd2 A G 9: 110,385,434 (GRCm39) I136M unknown Het
Sfrp2 A G 3: 83,674,291 (GRCm39) D148G probably benign Het
Slc24a4 A G 12: 102,220,769 (GRCm39) E400G probably benign Het
Slc2a9 T G 5: 38,610,464 (GRCm39) I112L probably benign Het
Smc5 A T 19: 23,186,312 (GRCm39) Y972* probably null Het
Sntg1 T C 1: 8,515,248 (GRCm39) probably null Het
Spata31h1 T C 10: 82,129,470 (GRCm39) N1180S probably benign Het
Stag1 A G 9: 100,639,786 (GRCm39) D114G probably damaging Het
Suclg1 T C 6: 73,233,192 (GRCm39) S46P probably damaging Het
Synj1 C T 16: 90,743,703 (GRCm39) A1186T probably benign Het
Tas2r124 A G 6: 132,732,410 (GRCm39) T240A probably benign Het
Tax1bp1 T C 6: 52,721,341 (GRCm39) probably null Het
Tchh C A 3: 93,355,158 (GRCm39) Q1533K unknown Het
Tmprss15 T C 16: 78,759,058 (GRCm39) T887A probably benign Het
Ttn T C 2: 76,536,937 (GRCm39) I34963V probably benign Het
Unc79 G A 12: 103,078,878 (GRCm39) G1485D probably damaging Het
Usp9y G T Y: 1,385,355 (GRCm39) H633N probably benign Homo
Vmn2r99 A T 17: 19,602,867 (GRCm39) N541Y probably damaging Het
Zbtb11 T A 16: 55,810,854 (GRCm39) N337K probably benign Het
Zfp260 T A 7: 29,804,267 (GRCm39) C56S possibly damaging Het
Zfp457 C T 13: 67,440,746 (GRCm39) E610K probably damaging Het
Other mutations in Rb1cc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GATGGGGTTCATCCTATTAATCTTCC -3'
(R):5'- AAATGAAATTCAGCTGCTTGCC -3'

Sequencing Primer
(F):5'- GGTTCATCCTATTAATCTTCCTTTGC -3'
(R):5'- CTTGCCTCTGGGAGCTAGAAATC -3'
Posted On 2018-04-02