Incidental Mutation 'R5341:Rb1cc1'
ID 478257
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 042920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5341 (G1)
Quality Score 59
Status Validated
Chromosome 1
Chromosomal Location 6284858-6346599 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 6285266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027040] [ENSMUST00000159906] [ENSMUST00000160062] [ENSMUST00000160871]
AlphaFold Q9ESK9
Predicted Effect probably benign
Transcript: ENSMUST00000027040
SMART Domains Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907

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: ENSMUST00000097832
SMART Domains Protein: ENSMUSP00000095443
Gene: ENSMUSG00000073741

DomainStartEndE-ValueType
low complexity region 42 52 N/A INTRINSIC
low complexity region 99 141 N/A INTRINSIC
low complexity region 148 167 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159618
Predicted Effect probably benign
Transcript: ENSMUST00000159906
SMART Domains Protein: ENSMUSP00000125396
Gene: ENSMUSG00000025907

DomainStartEndE-ValueType
SCOP:d1euvb_ 1 51 5e-6 SMART
Blast:UBQ 3 76 3e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160062
Predicted Effect probably benign
Transcript: ENSMUST00000160871
SMART Domains Protein: ENSMUSP00000123768
Gene: ENSMUSG00000025907

DomainStartEndE-ValueType
SCOP:d1euvb_ 1 51 1e-5 SMART
Blast:UBQ 3 76 3e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191825
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (64/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,223,236 (GRCm39) D15G unknown Het
Actr5 C A 2: 158,467,144 (GRCm39) S28* probably null Het
Adcy1 A C 11: 7,080,375 (GRCm39) M373L probably damaging Het
Adcyap1r1 C G 6: 55,455,054 (GRCm39) F111L probably benign Het
Arid5b A T 10: 68,113,957 (GRCm39) F27I possibly damaging Het
Art5 C A 7: 101,747,306 (GRCm39) V158L probably benign Het
Bora T A 14: 99,305,530 (GRCm39) Y300N probably damaging Het
Cd300a A G 11: 114,784,288 (GRCm39) T99A probably damaging Het
Cdon A G 9: 35,381,431 (GRCm39) Y607C probably damaging Het
Cenatac A G 9: 44,328,406 (GRCm39) probably null Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Cstdc7 A G 18: 42,306,496 (GRCm39) D21G possibly damaging Het
Dhx8 AGACCGGGACCGGGACCGGGACCGGGAC AGACCGGGACCGGGACCGGGAC 11: 101,629,016 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,219,534 (GRCm39) E136G possibly damaging Het
Enox1 A C 14: 77,815,096 (GRCm39) T85P possibly damaging Het
Fanci T C 7: 79,055,926 (GRCm39) L158P probably damaging Het
Gbgt1 C A 2: 28,395,019 (GRCm39) T219N probably damaging Het
Gulo T C 14: 66,225,707 (GRCm39) D373G probably benign Het
Hivep2 C A 10: 14,008,336 (GRCm39) Q1645K possibly damaging Het
Iqce A C 5: 140,675,814 (GRCm39) M114R possibly damaging Het
Lmbrd1 A T 1: 24,785,892 (GRCm39) K396* probably null Het
Lrrk2 A T 15: 91,657,061 (GRCm39) D1785V probably damaging Het
Matcap1 A T 8: 106,011,687 (GRCm39) M226K probably damaging Het
Mcmdc2 ATAAAAAAAAAGGAAAAATTACCTT AT 1: 10,011,142 (GRCm39) probably null Het
Mepce A G 5: 137,781,522 (GRCm39) V564A probably damaging Het
Mmp17 A T 5: 129,679,193 (GRCm39) D364V possibly damaging Het
Mrgpre T C 7: 143,335,246 (GRCm39) N86D probably benign Het
Ms4a20 T C 19: 11,087,745 (GRCm39) probably benign Het
Or2r11 A T 6: 42,437,098 (GRCm39) L285Q probably damaging Het
Or4f53 T A 2: 111,087,982 (GRCm39) I174K probably damaging Het
Pate11 A T 9: 36,388,357 (GRCm39) K61* probably null Het
Pax5 T C 4: 44,697,630 (GRCm39) D35G probably damaging Het
Pip5k1b T A 19: 24,281,440 (GRCm39) T473S probably benign Het
Pkd2l2 A G 18: 34,542,987 (GRCm39) probably null Het
Pygo2 C A 3: 89,340,067 (GRCm39) P155Q probably damaging Het
Rbpj A G 5: 53,799,425 (GRCm39) E80G possibly damaging Het
Sbno1 A C 5: 124,546,538 (GRCm39) probably null Het
Slc1a1 T A 19: 28,874,968 (GRCm39) V182E probably benign Het
Slc34a3 A T 2: 25,120,671 (GRCm39) F419I probably benign Het
Snx8 A G 5: 140,343,886 (GRCm39) V62A probably damaging Het
Sp9 T C 2: 73,104,858 (GRCm39) S471P possibly damaging Het
Sspo A T 6: 48,436,549 (GRCm39) S1270C probably damaging Het
Stk11 A T 10: 79,962,094 (GRCm39) T83S probably benign Het
Syt13 A G 2: 92,783,897 (GRCm39) E389G probably benign Het
Taf10 T C 7: 105,390,139 (GRCm39) probably benign Het
Tgm1 A T 14: 55,937,705 (GRCm39) S801R possibly damaging Het
Thoc2l A T 5: 104,665,942 (GRCm39) T155S probably damaging Het
Timeless T C 10: 128,083,047 (GRCm39) F628L possibly damaging Het
Tmem171 G T 13: 98,824,956 (GRCm39) P225T probably damaging Het
Tspan12 A T 6: 21,835,458 (GRCm39) C72S possibly damaging Het
Txk T C 5: 72,853,964 (GRCm39) T458A probably benign Het
Txndc9 A G 1: 38,026,704 (GRCm39) probably benign Het
Uap1 C A 1: 169,971,000 (GRCm39) C464F probably damaging Het
Ugt2b36 A T 5: 87,240,087 (GRCm39) Y99* probably null Het
Usp35 T C 7: 96,975,134 (GRCm39) Y13C probably damaging Het
Vmn1r6 T G 6: 56,979,789 (GRCm39) N128K probably damaging Het
Vmn2r106 T A 17: 20,497,788 (GRCm39) I484L probably benign Het
Zdbf2 T A 1: 63,347,092 (GRCm39) S1824T probably benign Het
Zdhhc4 A G 5: 143,311,915 (GRCm39) V19A probably benign Het
Zfp955b C T 17: 33,524,095 (GRCm39) probably benign Het
Zfp97 T A 17: 17,365,472 (GRCm39) C324S probably damaging Het
Zswim8 G A 14: 20,766,122 (GRCm39) D803N 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
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'- AAGGCCGAGTCGACAATAAC -3'
(R):5'- TTACACCGATGCTTGCACTC -3'

Sequencing Primer
(F):5'- TGCCAAGCTCTCAGTGC -3'
(R):5'- GTCGGGACAAAGGCATCACC -3'
Posted On 2017-06-01