Incidental Mutation 'R9018:Rb1cc1'
ID 686108
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 068848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9018 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 6284858-6346599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6319490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 970 (E970K)
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: E970K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: E970K

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
SMART Domains Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: E849K

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
SMART Domains Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907
AA Change: E60K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,532 (GRCm39) E1552G probably damaging Het
Abca14 A T 7: 119,888,763 (GRCm39) K1236N probably benign Het
Adam3 A T 8: 25,184,292 (GRCm39) Y569* probably null Het
Adgrb2 A G 4: 129,907,659 (GRCm39) T998A probably benign Het
Adgre4 T A 17: 56,098,993 (GRCm39) H166Q probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Ankrd11 A G 8: 123,622,251 (GRCm39) S534P probably damaging Het
Atn1 C T 6: 124,722,661 (GRCm39) E805K unknown Het
Bsn T C 9: 107,994,488 (GRCm39) T596A probably benign Het
Cacnb4 C T 2: 52,324,706 (GRCm39) R452Q probably benign Het
Cdc123 C A 2: 5,849,683 (GRCm39) A13S probably benign Het
Chd7 G A 4: 8,847,083 (GRCm39) G1609S possibly damaging Het
Cp T A 3: 20,043,316 (GRCm39) C1035S probably damaging Het
Dcaf1 T A 9: 106,742,836 (GRCm39) C1383S probably damaging Het
Derl3 G A 10: 75,729,604 (GRCm39) V54I probably benign Het
Dgcr6 T C 16: 17,884,607 (GRCm39) L25P probably damaging Het
Dmrt2 A G 19: 25,650,985 (GRCm39) E57G probably benign Het
Dnaaf11 A T 15: 66,321,479 (GRCm39) S221T probably benign Het
Dst A G 1: 34,235,140 (GRCm39) K3562E probably damaging Het
Dyrk2 T C 10: 118,696,014 (GRCm39) T415A probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln1 T C 15: 85,126,215 (GRCm39) I484T probably damaging Het
Greb1l T A 18: 10,542,004 (GRCm39) D1250E possibly damaging Het
Ift88 A C 14: 57,675,702 (GRCm39) K72Q probably benign Het
Impg1 T A 9: 80,301,474 (GRCm39) I228F probably benign Het
Itsn2 A G 12: 4,708,091 (GRCm39) N799S possibly damaging Het
Jade1 T A 3: 41,564,292 (GRCm39) C521S probably benign Het
Katna1 T G 10: 7,637,040 (GRCm39) L397R probably damaging Het
Kcnj15 A C 16: 95,097,129 (GRCm39) K250N probably damaging Het
Macc1 A G 12: 119,409,941 (GRCm39) I236M possibly damaging Het
Mapk13 C T 17: 28,996,760 (GRCm39) R276C probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mindy4 C T 6: 55,278,072 (GRCm39) H639Y possibly damaging Het
Mphosph9 A G 5: 124,436,713 (GRCm39) S544P probably benign Het
Muc4 T C 16: 32,582,910 (GRCm39) Y492H Het
Mybbp1a C T 11: 72,334,420 (GRCm39) T225I probably benign Het
Myo6 A T 9: 80,159,086 (GRCm39) K285I unknown Het
Nmd3 G A 3: 69,647,328 (GRCm39) V277I probably benign Het
Nol9 G C 4: 152,123,918 (GRCm39) R36P probably damaging Het
Nom1 A G 5: 29,639,712 (GRCm39) R13G possibly damaging Het
Nudt14 G A 12: 112,902,906 (GRCm39) H40Y probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5b118 A T 19: 13,448,721 (GRCm39) H87L possibly damaging Het
Or8d1b T A 9: 38,887,687 (GRCm39) F238L probably benign Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pgghg A G 7: 140,524,579 (GRCm39) I309V probably benign Het
Phf12 C T 11: 77,914,510 (GRCm39) P651S possibly damaging Het
Pltp A G 2: 164,694,410 (GRCm39) L199P probably damaging Het
Pole T A 5: 110,437,675 (GRCm39) L78I probably benign Het
Ppm1d C A 11: 85,227,961 (GRCm39) H292Q probably damaging Het
Ppp2cb A C 8: 34,105,787 (GRCm39) I224L probably benign Het
Rabggta A T 14: 55,957,880 (GRCm39) I171N probably damaging Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Rnh1 A T 7: 140,748,544 (GRCm39) V11D probably benign Het
Robo4 C T 9: 37,315,520 (GRCm39) T288I probably benign Het
Scmh1 A G 4: 120,362,514 (GRCm39) D250G probably benign Het
Sele T A 1: 163,881,248 (GRCm39) C483S probably damaging Het
Slc12a6 A G 2: 112,174,585 (GRCm39) probably benign Het
Slc5a4a A G 10: 76,002,546 (GRCm39) E234G possibly damaging Het
Smarca5 A G 8: 81,431,355 (GRCm39) L954P probably damaging Het
St7 T A 6: 17,906,494 (GRCm39) N413K probably damaging Het
Stam2 C T 2: 52,606,463 (GRCm39) V141I probably benign Het
Stim1 C T 7: 102,060,482 (GRCm39) T175I probably benign Het
Strap A G 6: 137,716,811 (GRCm39) N130S probably benign Het
Stxbp2 A G 8: 3,692,627 (GRCm39) probably benign Het
Sult3a2 T A 10: 33,655,689 (GRCm39) I97F probably benign Het
Tbc1d32 A T 10: 55,948,693 (GRCm39) N965K probably benign Het
Tle3 T A 9: 61,319,750 (GRCm39) I506N probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tvp23a A G 16: 10,264,846 (GRCm39) S22P probably damaging Het
Vmn2r82 A G 10: 79,232,539 (GRCm39) N846S probably damaging Het
Vmn2r83 A G 10: 79,316,020 (GRCm39) N472S probably damaging Het
Xpo7 G A 14: 70,944,864 (GRCm39) Q10* probably null Het
Zfp423 G C 8: 88,508,381 (GRCm39) S654R probably benign Het
Zfp646 A T 7: 127,478,243 (GRCm39) H140L probably benign Het
Zfp719 C A 7: 43,233,489 (GRCm39) 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
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
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'- TTAGTATCCCTTGAAGAGGCTTTAC -3'
(R):5'- GTTGAGGCATGAGATTCTAGCATC -3'

Sequencing Primer
(F):5'- TTGTCTGTGTGCAGCAA -3'
(R):5'- AGGCATGAGATTCTAGCATCTGGTC -3'
Posted On 2021-10-11