Incidental Mutation 'R2076:Rb1cc1'
ID 229130
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 040081-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2076 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 6284858-6346599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6320262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1227 (I1227N)
Ref Sequence ENSEMBL: ENSMUSP00000027040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000162795]
AlphaFold Q9ESK9
Predicted Effect possibly damaging
Transcript: ENSMUST00000027040
AA Change: I1227N

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: I1227N

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: ENSMUST00000159206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159802
Predicted Effect unknown
Transcript: ENSMUST00000161327
AA Change: I1106N
SMART Domains Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: I1106N

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 unknown
Transcript: ENSMUST00000162257
AA Change: I317N
SMART Domains Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907
AA Change: I317N

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
SMART Domains Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907

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 0.0602 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,178,478 (GRCm39) V1165D probably benign Het
Acot11 T C 4: 106,627,910 (GRCm39) H103R probably damaging Het
Apba1 G T 19: 23,870,587 (GRCm39) E140* probably null Het
Bicdl1 A T 5: 115,793,987 (GRCm39) I253N probably damaging Het
Ccdc159 T C 9: 21,840,802 (GRCm39) probably null Het
Ccne2 A G 4: 11,197,177 (GRCm39) R160G probably damaging Het
Cct7 A T 6: 85,445,122 (GRCm39) I458F probably damaging Het
Cd3g T A 9: 44,885,595 (GRCm39) D50V probably damaging Het
Ces2h T C 8: 105,745,660 (GRCm39) L461P probably benign Het
Cplane1 T A 15: 8,248,741 (GRCm39) D1763E possibly damaging Het
Csn2 A G 5: 87,844,033 (GRCm39) S19P probably damaging Het
Cyp3a11 A T 5: 145,816,576 (GRCm39) V4D probably benign Het
Ddx3y A G Y: 1,266,593 (GRCm39) probably null Het
Dipk1c G T 18: 84,755,033 (GRCm39) D170Y probably damaging Het
Dlgap1 C T 17: 71,093,826 (GRCm39) Q716* probably null Het
Dlx6 A G 6: 6,867,098 (GRCm39) S234G probably benign Het
Dnah7a T C 1: 53,542,968 (GRCm39) T2401A probably benign Het
Dnah7b T G 1: 46,281,481 (GRCm39) Y2847* probably null Het
Dpysl2 A G 14: 67,102,571 (GRCm39) S30P probably damaging Het
Elp1 T C 4: 56,786,620 (GRCm39) D441G probably damaging Het
Ezh2 A T 6: 47,553,567 (GRCm39) L50* probably null Het
Fam135b T A 15: 71,350,092 (GRCm39) E349D probably damaging Het
Foxl3 A G 5: 138,807,022 (GRCm39) D100G probably benign Het
Frat2 T C 19: 41,836,242 (GRCm39) T37A probably benign Het
Hivep1 G A 13: 42,317,869 (GRCm39) probably null Het
Ift25 T C 4: 107,136,964 (GRCm39) S121P possibly damaging Het
Impdh1 G A 6: 29,205,162 (GRCm39) A213V probably damaging Het
Irf2 G T 8: 47,298,962 (GRCm39) W252L probably damaging Het
Irx4 A G 13: 73,416,384 (GRCm39) D260G probably damaging Het
Kalrn T A 16: 34,152,513 (GRCm39) H338L probably benign Het
Kif9 T A 9: 110,314,100 (GRCm39) probably null Het
Klhl24 T C 16: 19,936,628 (GRCm39) V412A probably damaging Het
Lgals8 T A 13: 12,469,750 (GRCm39) K70* probably null Het
Mrtfb T C 16: 13,219,246 (GRCm39) S631P probably benign Het
Myo1e T A 9: 70,291,159 (GRCm39) N983K probably benign Het
Nipbl T C 15: 8,340,691 (GRCm39) R2010G probably benign Het
Npw A T 17: 24,876,413 (GRCm39) V166D possibly damaging Het
Osbpl5 T C 7: 143,262,881 (GRCm39) Y169C probably damaging Het
Pcdh15 T C 10: 74,178,479 (GRCm39) Y579H probably damaging Het
Pde8a A G 7: 80,958,693 (GRCm39) T330A probably benign Het
Plxnb2 C T 15: 89,042,229 (GRCm39) V1592M probably damaging Het
Ppp2r3d A C 9: 101,021,570 (GRCm39) M955R possibly damaging Het
Ptprk T A 10: 28,465,364 (GRCm39) I1349K probably damaging Het
Rad52 C T 6: 119,888,040 (GRCm39) H9Y probably benign Het
Rapgef1 A G 2: 29,592,520 (GRCm39) Q466R probably benign Het
Rhbdf1 T C 11: 32,164,088 (GRCm39) M273V probably benign Het
Shoc1 A G 4: 59,082,410 (GRCm39) V406A possibly damaging Het
Slc30a3 G T 5: 31,244,165 (GRCm39) Y323* probably null Het
Slc5a9 T C 4: 111,742,770 (GRCm39) I441V possibly damaging Het
Spast G C 17: 74,659,026 (GRCm39) G131A probably damaging Het
Syne1 C G 10: 4,990,897 (GRCm39) W8444S probably damaging Het
Tgm4 G T 9: 122,880,160 (GRCm39) A211S probably benign Het
Themis2 T C 4: 132,513,113 (GRCm39) D371G probably damaging Het
Tmem132e T A 11: 82,325,894 (GRCm39) I206N possibly damaging Het
Uba3 G T 6: 97,176,241 (GRCm39) D88E probably damaging Het
Vmn1r230 T A 17: 21,067,144 (GRCm39) M111K probably damaging Het
Wdr35 C T 12: 9,074,281 (GRCm39) H971Y possibly damaging Het
Yeats2 C A 16: 20,005,032 (GRCm39) H356Q possibly damaging Het
Zfp180 A G 7: 23,804,528 (GRCm39) K316E probably damaging Het
Zfp518a T C 19: 40,902,771 (GRCm39) L900P probably damaging Het
Zfp655 A G 5: 145,181,410 (GRCm39) N423D possibly damaging Het
Zfp932 A G 5: 110,157,334 (GRCm39) Q344R probably benign 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
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
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'- ACATCTTTGCATCGCCAAGC -3'
(R):5'- GAGGACCATTCTGTATATTCCCATC -3'

Sequencing Primer
(F):5'- TTTGCATCGCCAAGCATATG -3'
(R):5'- AACTAGTTCACTCTGTAGCCCAGG -3'
Posted On 2014-09-17