Incidental Mutation 'R6054:Rb1cc1'
ID 484283
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 044222-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6054 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 6284858-6346599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6320058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1159 (R1159L)
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: R1159L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: R1159L

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: R1038L
SMART Domains Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: R1038L

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: R249L
SMART Domains Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907
AA Change: R249L

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
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
4930562C15Rik T C 16: 4,653,729 (GRCm39) S93P unknown Het
Adam28 T A 14: 68,879,601 (GRCm39) N149I probably benign Het
Adam4 A C 12: 81,466,828 (GRCm39) F598V probably damaging Het
Adh5 A G 3: 138,151,136 (GRCm39) H33R possibly damaging Het
Apoh A G 11: 108,286,801 (GRCm39) N75S probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atm T C 9: 53,371,173 (GRCm39) D2225G probably damaging Het
Atp6v0a1 C T 11: 100,930,715 (GRCm39) P514L possibly damaging Het
Brd9 T A 13: 74,088,860 (GRCm39) M195K probably damaging Het
Cacna1a T G 8: 85,283,414 (GRCm39) S755A probably damaging Het
Ccdc85c T A 12: 108,241,028 (GRCm39) H122L unknown Het
Ccs A T 19: 4,875,893 (GRCm39) D192E probably benign Het
Cd3e G A 9: 44,913,459 (GRCm39) T92M possibly damaging Het
Celsr2 A G 3: 108,314,279 (GRCm39) F1249L possibly damaging Het
Col16a1 G A 4: 129,955,515 (GRCm39) probably benign Het
Col17a1 A G 19: 47,668,859 (GRCm39) Y122H probably damaging Het
Col28a1 G A 6: 8,083,748 (GRCm39) P570S possibly damaging Het
Dchs2 A T 3: 83,253,543 (GRCm39) I2318L probably benign Het
Dhx35 T A 2: 158,660,219 (GRCm39) Y184N probably benign Het
Dmxl1 T G 18: 49,990,453 (GRCm39) N297K probably benign Het
Dsp G A 13: 38,351,585 (GRCm39) G135S probably benign Het
Efhb C T 17: 53,706,027 (GRCm39) V837I possibly damaging Het
Efs C T 14: 55,158,614 (GRCm39) D15N probably damaging Het
Fbxl19 C T 7: 127,351,681 (GRCm39) T314I probably damaging Het
Gm11595 A T 11: 99,663,474 (GRCm39) C69S unknown Het
Grxcr2 A G 18: 42,119,743 (GRCm39) V199A probably benign Het
Hadha T C 5: 30,328,682 (GRCm39) E468G probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,217 (GRCm39) V125E probably damaging Het
Hrg A T 16: 22,772,412 (GRCm39) T74S probably benign Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Leng8 C A 7: 4,148,522 (GRCm39) probably null Het
Maml2 TCAGCAGCAGCAGCAGCAGC TCAGCAGCAGCAGCAGC 9: 13,532,695 (GRCm39) probably benign Het
Mctp2 T C 7: 71,908,851 (GRCm39) H154R probably benign Het
Megf6 A G 4: 154,347,636 (GRCm39) E777G probably benign Het
Miip A G 4: 147,950,135 (GRCm39) S154P probably benign Het
Mprip T C 11: 59,649,251 (GRCm39) V985A probably benign Het
Nmrk2 G A 10: 81,035,468 (GRCm39) R158W probably damaging Het
Nsd2 T C 5: 34,039,505 (GRCm39) S180P probably damaging Het
Oga A G 19: 45,764,571 (GRCm39) S190P probably damaging Het
Opa1 T G 16: 29,433,952 (GRCm39) S596A probably damaging Het
Or1ad1 G A 11: 50,875,631 (GRCm39) M34I probably benign Het
Or51b4 A G 7: 103,531,033 (GRCm39) V139A probably damaging Het
Pcdha2 A G 18: 37,073,857 (GRCm39) E496G probably damaging Het
Pcdhb5 T G 18: 37,454,133 (GRCm39) V171G probably damaging Het
Pramel6 A G 2: 87,339,003 (GRCm39) T68A probably benign Het
Ptprq T C 10: 107,418,219 (GRCm39) Y1719C probably damaging Het
Pzp T C 6: 128,490,727 (GRCm39) N412S probably benign Het
Rev3l T A 10: 39,700,146 (GRCm39) S1548T probably benign Het
Rora A G 9: 69,286,084 (GRCm39) I471M probably benign Het
Scube1 C A 15: 83,535,877 (GRCm39) V266L probably benign Het
Sema6a C T 18: 47,416,470 (GRCm39) D386N possibly damaging Het
Siglecf T A 7: 43,004,430 (GRCm39) L253Q probably damaging Het
Spata31d1b A G 13: 59,863,464 (GRCm39) H204R probably benign Het
Syt17 T C 7: 118,007,356 (GRCm39) T313A possibly damaging Het
Tbc1d32 T C 10: 56,038,304 (GRCm39) T578A possibly damaging Het
Trpm1 A G 7: 63,918,450 (GRCm39) S597G probably benign Het
Vmn2r9 T A 5: 108,996,126 (GRCm39) H174L probably damaging Het
Vrk2 A T 11: 26,436,975 (GRCm39) S281T probably benign Het
Wdr48 A G 9: 119,736,843 (GRCm39) D22G probably damaging Het
Zfp408 C A 2: 91,479,636 (GRCm39) V61L probably benign Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T 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
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'- GTCTTTACTTGAACAAGAGACCGA -3'
(R):5'- TCTTGCTCGTGGTTCTTGAC -3'

Sequencing Primer
(F):5'- CTTGAACAAGAGACCGAAAACTTAAG -3'
(R):5'- GTTCTTGACCAGTCTCTCCTTG -3'
Posted On 2017-07-14