Incidental Mutation 'R7484:Rb1cc1'
ID 579974
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 045558-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7484 (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 C at 6344441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1570 (V1570A)
Ref Sequence ENSEMBL: ENSMUSP00000027040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000159530]
AlphaFold Q9ESK9
Predicted Effect probably damaging
Transcript: ENSMUST00000027040
AA Change: V1570A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: V1570A

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 probably damaging
Transcript: ENSMUST00000159530
AA Change: V209A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124220
Gene: ENSMUSG00000025907
AA Change: V209A

DomainStartEndE-ValueType
coiled coil region 1 35 N/A INTRINSIC
Pfam:ATG11 84 223 1.8e-32 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: V1449A

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
Meta Mutation Damage Score 0.3265 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (65/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A G 4: 144,504,521 (GRCm39) L210P probably damaging Het
Acacb G A 5: 114,356,923 (GRCm39) V1285I probably damaging Het
Acly A T 11: 100,386,789 (GRCm39) I591N probably damaging Het
Acr T A 15: 89,457,427 (GRCm39) V225E probably damaging Het
Actr8 A G 14: 29,714,925 (GRCm39) D580G probably damaging Het
Adamts12 C A 15: 11,345,734 (GRCm39) Q1592K probably benign Het
Aire T C 10: 77,878,404 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,056,884 (GRCm39) Q1789* probably null Het
Cbx5 A C 15: 103,114,256 (GRCm39) probably null Het
Cd300lb A T 11: 114,819,345 (GRCm39) W95R probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cenpf A G 1: 189,389,018 (GRCm39) S1605P probably damaging Het
Ckap2l A G 2: 129,114,455 (GRCm39) V596A possibly damaging Het
Cntn1 T C 15: 92,151,922 (GRCm39) W454R probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csf2rb A G 15: 78,223,099 (GRCm39) T104A possibly damaging Het
Cyp4a12b A G 4: 115,289,760 (GRCm39) D209G possibly damaging Het
Ddx23 T C 15: 98,546,570 (GRCm39) E533G probably damaging Het
Dscaml1 A G 9: 45,660,744 (GRCm39) probably null Het
Eif3l T G 15: 78,968,336 (GRCm39) C202G probably benign Het
Ephx4 T G 5: 107,577,612 (GRCm39) M312R probably damaging Het
Erich6 A T 3: 58,534,112 (GRCm39) probably null Het
Far2 G A 6: 148,075,411 (GRCm39) D424N probably damaging Het
Fat1 C A 8: 45,489,221 (GRCm39) N3497K probably damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Fyb2 A T 4: 104,870,499 (GRCm39) H700L probably benign Het
Gm8356 T A 14: 17,691,282 (GRCm39) M128L probably benign Het
Golim4 G T 3: 75,805,442 (GRCm39) probably null Het
Grm1 T G 10: 10,622,403 (GRCm39) D440A probably benign Het
Gtf2a1 A G 12: 91,529,747 (GRCm39) V322A probably benign Het
Hid1 T C 11: 115,243,407 (GRCm39) probably null Het
Igfals G A 17: 25,098,962 (GRCm39) V18M possibly damaging Het
Klk1b24 G T 7: 43,839,688 (GRCm39) probably null Het
Lmbr1 T C 5: 29,551,850 (GRCm39) probably benign Het
Lrrc40 T C 3: 157,746,194 (GRCm39) S90P probably benign Het
Mapk9 T C 11: 49,763,663 (GRCm39) Y185H probably damaging Het
Marveld2 C T 13: 100,748,068 (GRCm39) G337D probably damaging Het
Mga G T 2: 119,776,710 (GRCm39) R1539L probably damaging Het
Mllt6 T A 11: 97,563,442 (GRCm39) S342T probably benign Het
Ms4a6c T C 19: 11,449,893 (GRCm39) probably null Het
Muc16 T A 9: 18,558,064 (GRCm39) H2743L unknown Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or10ag60 T C 2: 87,438,281 (GRCm39) F183S probably damaging Het
Or2l13 A G 16: 19,305,753 (GRCm39) H55R possibly damaging Het
Plcd3 T G 11: 102,962,545 (GRCm39) K635N probably damaging Het
Prkch T A 12: 73,632,301 (GRCm39) probably null Het
Rp1 T C 1: 4,415,704 (GRCm39) N1803D probably benign Het
Rufy3 T A 5: 88,746,331 (GRCm39) V72E probably benign Het
Secisbp2l G A 2: 125,613,452 (GRCm39) Q181* probably null Het
Sgcb A G 5: 73,797,188 (GRCm39) F191L possibly damaging Het
Sgsh T A 11: 119,237,183 (GRCm39) D477V probably damaging Het
Shoc1 A T 4: 59,062,286 (GRCm39) V924E probably damaging Het
Slc22a28 C A 19: 8,048,492 (GRCm39) S385I probably benign Het
Slc26a3 T C 12: 31,497,787 (GRCm39) V47A probably benign Het
Slco2a1 A T 9: 102,945,185 (GRCm39) I187F probably damaging Het
Sltm T C 9: 70,481,179 (GRCm39) S344P unknown Het
Sort1 A G 3: 108,246,141 (GRCm39) T373A probably damaging Het
Stab1 A G 14: 30,882,274 (GRCm39) F474L probably benign Het
Tbc1d5 G T 17: 51,224,573 (GRCm39) A326E possibly damaging Het
Tcstv4 A T 13: 120,770,017 (GRCm39) K112N probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr70 G A 15: 7,951,562 (GRCm39) T425I probably benign Het
Zfp30 T C 7: 29,492,231 (GRCm39) Y243H probably benign Het
Zfp974 A T 7: 27,611,559 (GRCm39) N55K possibly damaging Het
Zftraf1 A G 15: 76,530,435 (GRCm39) L295P 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
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
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'- AATTTGTTTCATTCATTCAGTGACTC -3'
(R):5'- TGCAGTCCACCAATGAAGTATATT -3'

Sequencing Primer
(F):5'- GATCCATCCATTAGCTGACTGTGAG -3'
(R):5'- ATCAGCACTGGAGGACAA -3'
Posted On 2019-10-07