Incidental Mutation 'R7453:Rnf123'
ID 615943
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 045527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R7453 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108051534-108083346 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 108070408 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000161828] [ENSMUST00000162355] [ENSMUST00000162516] [ENSMUST00000174504] [ENSMUST00000178267]
AlphaFold Q5XPI3
Predicted Effect probably null
Transcript: ENSMUST00000047746
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
low complexity region 104 115 N/A INTRINSIC
SPRY 132 253 1.52e-28 SMART
low complexity region 471 488 N/A INTRINSIC
low complexity region 508 518 N/A INTRINSIC
coiled coil region 1047 1067 N/A INTRINSIC
low complexity region 1242 1251 N/A INTRINSIC
RING 1260 1297 5.27e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160249
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
low complexity region 104 115 N/A INTRINSIC
SPRY 132 253 1.52e-28 SMART
low complexity region 471 488 N/A INTRINSIC
low complexity region 508 518 N/A INTRINSIC
coiled coil region 1041 1061 N/A INTRINSIC
low complexity region 1236 1245 N/A INTRINSIC
RING 1254 1291 5.27e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160649
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
low complexity region 104 115 N/A INTRINSIC
SPRY 132 253 1.52e-28 SMART
low complexity region 471 488 N/A INTRINSIC
low complexity region 508 518 N/A INTRINSIC
coiled coil region 1041 1061 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161828
Predicted Effect probably null
Transcript: ENSMUST00000162355
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
low complexity region 104 115 N/A INTRINSIC
SPRY 132 253 1.52e-28 SMART
low complexity region 471 488 N/A INTRINSIC
low complexity region 508 518 N/A INTRINSIC
coiled coil region 1047 1067 N/A INTRINSIC
low complexity region 1242 1251 N/A INTRINSIC
RING 1260 1297 5.27e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162516
Predicted Effect probably benign
Transcript: ENSMUST00000174504
Predicted Effect probably null
Transcript: ENSMUST00000178267
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
low complexity region 104 115 N/A INTRINSIC
SPRY 132 253 1.52e-28 SMART
low complexity region 471 488 N/A INTRINSIC
low complexity region 508 518 N/A INTRINSIC
coiled coil region 1041 1061 N/A INTRINSIC
low complexity region 1236 1245 N/A INTRINSIC
RING 1254 1291 5.27e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (122/122)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 156,003,389 (GRCm38) S32P possibly damaging Het
Acaca T C 11: 84,245,310 (GRCm38) V497A probably benign Het
Acox1 T C 11: 116,180,961 (GRCm38) T214A probably benign Het
Adgrb2 G A 4: 130,014,637 (GRCm38) probably null Het
Adh1 G A 3: 138,289,941 (GRCm38) probably null Het
Angptl1 G T 1: 156,844,851 (GRCm38) M82I probably benign Het
Arg1 A G 10: 24,915,776 (GRCm38) L269P probably damaging Het
Arid2 T G 15: 96,370,724 (GRCm38) V906G probably benign Het
Arid5b A T 10: 68,243,164 (GRCm38) H114Q probably benign Het
Atad5 T C 11: 80,119,143 (GRCm38) probably null Het
AU040320 G A 4: 126,835,700 (GRCm38) probably null Het
B230104I21Rik A T 4: 154,347,728 (GRCm38) T44S unknown Het
BC024063 G A 10: 82,110,157 (GRCm38) R537H possibly damaging Het
Bfsp2 A T 9: 103,453,107 (GRCm38) L177Q probably damaging Het
Birc5 C A 11: 117,852,681 (GRCm38) H80Q probably damaging Het
Bpifb9a T C 2: 154,264,695 (GRCm38) L382P probably damaging Het
Ces2c A T 8: 104,849,670 (GRCm38) N105I probably benign Het
Cflar G A 1: 58,753,797 (GRCm38) V441M Het
Ckap4 A G 10: 84,528,599 (GRCm38) V200A probably damaging Het
Clec16a C A 16: 10,644,822 (GRCm38) T668N probably damaging Het
Cntrl A C 2: 35,155,409 (GRCm38) E1376D possibly damaging Het
Col18a1 A T 10: 77,085,210 (GRCm38) probably null Het
Coq2 T C 5: 100,663,586 (GRCm38) Y179C probably benign Het
Cpne6 A G 14: 55,512,016 (GRCm38) E11G probably benign Het
Cr2 A C 1: 195,165,257 (GRCm38) probably null Het
Csf2rb2 C T 15: 78,285,291 (GRCm38) D555N probably benign Het
Cyp2j12 A T 4: 96,102,126 (GRCm38) V401D possibly damaging Het
Dbp C T 7: 45,705,703 (GRCm38) A27V probably benign Het
Dll1 C A 17: 15,374,889 (GRCm38) R42L probably benign Het
Dst C A 1: 34,191,358 (GRCm38) H2677Q possibly damaging Het
Efl1 G T 7: 82,681,467 (GRCm38) V283F possibly damaging Het
Enah C T 1: 181,961,905 (GRCm38) C7Y unknown Het
Fam193a A T 5: 34,464,116 (GRCm38) E1139V possibly damaging Het
Fbn1 G A 2: 125,320,959 (GRCm38) P2136S possibly damaging Het
Fggy T C 4: 95,597,690 (GRCm38) V91A probably damaging Het
Fn1 T A 1: 71,590,880 (GRCm38) D2343V probably damaging Het
Galk2 T C 2: 125,887,861 (GRCm38) V54A possibly damaging Het
Glb1l T A 1: 75,202,706 (GRCm38) Y193F probably damaging Het
Gm45861 G T 8: 27,541,658 (GRCm38) R867L unknown Het
Grin2b T C 6: 135,740,949 (GRCm38) D715G possibly damaging Het
Hltf A T 3: 20,082,752 (GRCm38) R384S possibly damaging Het
Hs3st1 A G 5: 39,614,967 (GRCm38) M111T probably damaging Het
Idua A G 5: 108,681,496 (GRCm38) T388A probably benign Het
Kat14 T C 2: 144,380,734 (GRCm38) S136P possibly damaging Het
Kif24 A C 4: 41,394,673 (GRCm38) C867W possibly damaging Het
Klhdc10 T A 6: 30,447,990 (GRCm38) probably null Het
Klra10 A G 6: 130,280,364 (GRCm38) V59A probably damaging Het
Limk1 T A 5: 134,669,237 (GRCm38) I223F probably damaging Het
Lrp10 G A 14: 54,468,456 (GRCm38) G368S probably damaging Het
Lrrc7 T C 3: 158,185,409 (GRCm38) R374G probably benign Het
Lypd1 T A 1: 125,873,566 (GRCm38) M66L probably benign Het
Maats1 A G 16: 38,321,479 (GRCm38) S364P possibly damaging Het
Mast4 C T 13: 102,804,641 (GRCm38) probably null Het
Mbp C T 18: 82,554,643 (GRCm38) H155Y probably damaging Het
Micu3 G A 8: 40,335,898 (GRCm38) C150Y probably benign Het
Mras C T 9: 99,389,740 (GRCm38) V174I probably benign Het
Mroh1 T A 15: 76,433,545 (GRCm38) I827N probably damaging Het
Ms4a12 C A 19: 11,225,662 (GRCm38) G101* probably null Het
Mylk2 A T 2: 152,912,433 (GRCm38) K149M probably damaging Het
Myom3 T A 4: 135,801,035 (GRCm38) L1064I probably damaging Het
Naa30 A G 14: 49,187,687 (GRCm38) *365W probably null Het
Ncoa1 C T 12: 4,259,307 (GRCm38) G1330R probably damaging Het
Nhlh1 T A 1: 172,054,279 (GRCm38) T7S probably benign Het
Nipsnap3a A G 4: 52,995,882 (GRCm38) Q110R probably benign Het
Nostrin T C 2: 69,183,896 (GRCm38) Y399H possibly damaging Het
Nsfl1c C A 2: 151,509,511 (GRCm38) T263K possibly damaging Het
Nup153 T C 13: 46,681,181 (GRCm38) T1456A probably damaging Het
Olfr116 G T 17: 37,624,385 (GRCm38) D83E probably benign Het
Olfr154 T A 2: 85,664,180 (GRCm38) M85L probably benign Het
Olfr558 T A 7: 102,709,517 (GRCm38) I86N probably damaging Het
Olfr67 T A 7: 103,787,672 (GRCm38) I202F possibly damaging Het
Olfr933 A T 9: 38,976,204 (GRCm38) H176L probably damaging Het
Olfr97 T C 17: 37,231,980 (GRCm38) Y130C probably damaging Het
Pan3 G A 5: 147,526,681 (GRCm38) probably null Het
Pcdhgb2 C T 18: 37,691,015 (GRCm38) T353I probably damaging Het
Pcif1 A G 2: 164,889,630 (GRCm38) H501R possibly damaging Het
Pcif1 A T 2: 164,888,364 (GRCm38) H339L probably damaging Het
Pcnt T C 10: 76,389,450 (GRCm38) H1740R probably benign Het
Polr1b T A 2: 129,125,663 (GRCm38) I992N probably damaging Het
Ppfia2 C T 10: 106,927,830 (GRCm38) T1228M possibly damaging Het
Ppp2r5e A G 12: 75,462,342 (GRCm38) F388L probably damaging Het
Ptpre G T 7: 135,538,074 (GRCm38) R4L unknown Het
Pzp G T 6: 128,486,916 (GRCm38) P1410T probably damaging Het
Qrich1 A C 9: 108,556,476 (GRCm38) K656T possibly damaging Het
Rabep1 C T 11: 70,917,660 (GRCm38) P481S probably damaging Het
Rgs9 T A 11: 109,227,268 (GRCm38) R579W probably damaging Het
Rhot1 T C 11: 80,248,540 (GRCm38) probably null Het
Rreb1 T G 13: 37,941,569 (GRCm38) C1284G probably damaging Het
Rsph4a A G 10: 33,909,293 (GRCm38) E400G probably benign Het
Rufy4 T A 1: 74,129,334 (GRCm38) probably null Het
S100pbp A G 4: 129,182,085 (GRCm38) L149P probably damaging Het
Sall3 T C 18: 80,972,040 (GRCm38) D891G probably benign Het
Scn10a C T 9: 119,638,552 (GRCm38) V841I probably benign Het
Scn5a T A 9: 119,522,590 (GRCm38) Y775F possibly damaging Het
Sec62 A T 3: 30,809,796 (GRCm38) probably null Het
Slc24a1 A T 9: 64,949,301 (GRCm38) M108K unknown Het
Spata22 T A 11: 73,335,990 (GRCm38) probably null Het
Stk4 A G 2: 164,086,602 (GRCm38) N118S probably benign Het
Stt3a A T 9: 36,747,970 (GRCm38) S358T possibly damaging Het
Tbc1d31 T A 15: 57,950,995 (GRCm38) F531I probably damaging Het
Tfrc A G 16: 32,619,049 (GRCm38) T307A probably damaging Het
Thegl A G 5: 77,060,786 (GRCm38) H387R probably damaging Het
Tnpo2 T C 8: 85,055,022 (GRCm38) I811T probably damaging Het
Ttc23l T C 15: 10,533,767 (GRCm38) Y230C probably damaging Het
Ttll13 A G 7: 80,260,434 (GRCm38) D775G probably benign Het
Ttn T C 2: 76,944,929 (GRCm38) K1969R unknown Het
Ube2s G A 7: 4,810,436 (GRCm38) R110* probably null Het
Ubxn11 G A 4: 134,126,229 (GRCm38) R364Q probably benign Het
Unc13d T C 11: 116,067,871 (GRCm38) Q773R probably benign Het
Ush2a T C 1: 188,553,111 (GRCm38) V1948A probably damaging Het
Vmn1r205 A T 13: 22,592,761 (GRCm38) I57N probably damaging Het
Vmn2r69 GAAAA GAAAAA 7: 85,411,560 (GRCm38) probably null Het
Vmn2r71 A T 7: 85,624,089 (GRCm38) T704S probably benign Het
Vmn2r93 T A 17: 18,313,318 (GRCm38) S495T probably benign Het
Wiz T A 17: 32,379,075 (GRCm38) I102F probably benign Het
Zan A C 5: 137,466,002 (GRCm38) L514V probably damaging Het
Zfp106 T A 2: 120,510,527 (GRCm38) N1857I probably damaging Het
Zfp106 A T 2: 120,545,919 (GRCm38) probably null Het
Zfp738 T C 13: 67,670,355 (GRCm38) T506A probably benign Het
Zfp934 T C 13: 62,518,703 (GRCm38) N53S probably benign Het
Other mutations in Rnf123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Rnf123 APN 9 108,067,395 (GRCm38) critical splice donor site probably null
IGL01358:Rnf123 APN 9 108,069,182 (GRCm38) missense probably damaging 1.00
IGL01464:Rnf123 APN 9 108,052,302 (GRCm38) missense probably damaging 1.00
IGL01637:Rnf123 APN 9 108,058,238 (GRCm38) missense probably damaging 1.00
IGL01669:Rnf123 APN 9 108,058,356 (GRCm38) missense probably damaging 0.98
IGL01905:Rnf123 APN 9 108,071,370 (GRCm38) splice site probably benign
IGL02070:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02072:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02073:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02074:Rnf123 APN 9 108,066,889 (GRCm38) missense probably damaging 1.00
IGL02079:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02080:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02231:Rnf123 APN 9 108,066,399 (GRCm38) missense probably benign 0.17
IGL02281:Rnf123 APN 9 108,071,452 (GRCm38) missense probably benign 0.01
IGL02336:Rnf123 APN 9 108,061,842 (GRCm38) missense probably damaging 1.00
IGL02543:Rnf123 APN 9 108,066,348 (GRCm38) missense probably damaging 1.00
IGL02565:Rnf123 APN 9 108,052,212 (GRCm38) critical splice donor site probably null
IGL02571:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02572:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02574:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02586:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02589:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02600:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02601:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02602:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02603:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02609:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02628:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02629:Rnf123 APN 9 108,070,789 (GRCm38) splice site probably benign
IGL02629:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02630:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02631:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02632:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02650:Rnf123 APN 9 108,069,748 (GRCm38) missense probably benign 0.29
IGL02690:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02691:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02692:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02693:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02713:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02736:Rnf123 APN 9 108,068,302 (GRCm38) nonsense probably null
IGL02929:Rnf123 APN 9 108,069,076 (GRCm38) missense probably benign
R1175:Rnf123 UTSW 9 108,077,373 (GRCm38) missense probably benign
R1465:Rnf123 UTSW 9 108,071,466 (GRCm38) splice site probably benign
R1502:Rnf123 UTSW 9 108,068,510 (GRCm38) splice site probably null
R1682:Rnf123 UTSW 9 108,077,398 (GRCm38) missense probably benign 0.16
R1817:Rnf123 UTSW 9 108,062,926 (GRCm38) missense probably benign 0.41
R1855:Rnf123 UTSW 9 108,061,791 (GRCm38) missense probably damaging 1.00
R2394:Rnf123 UTSW 9 108,063,536 (GRCm38) missense probably benign 0.00
R2483:Rnf123 UTSW 9 108,063,521 (GRCm38) missense probably benign 0.16
R3896:Rnf123 UTSW 9 108,069,103 (GRCm38) splice site probably benign
R3940:Rnf123 UTSW 9 108,064,035 (GRCm38) splice site probably benign
R4206:Rnf123 UTSW 9 108,063,963 (GRCm38) missense probably benign 0.01
R4641:Rnf123 UTSW 9 108,058,587 (GRCm38) missense probably damaging 1.00
R4714:Rnf123 UTSW 9 108,052,439 (GRCm38) splice site probably null
R4767:Rnf123 UTSW 9 108,052,089 (GRCm38) missense probably damaging 1.00
R4849:Rnf123 UTSW 9 108,056,091 (GRCm38) missense probably damaging 1.00
R4899:Rnf123 UTSW 9 108,063,680 (GRCm38) missense probably damaging 1.00
R5274:Rnf123 UTSW 9 108,064,003 (GRCm38) frame shift probably null
R5275:Rnf123 UTSW 9 108,064,003 (GRCm38) frame shift probably null
R5276:Rnf123 UTSW 9 108,064,003 (GRCm38) frame shift probably null
R5294:Rnf123 UTSW 9 108,064,003 (GRCm38) frame shift probably null
R5295:Rnf123 UTSW 9 108,064,003 (GRCm38) frame shift probably null
R5394:Rnf123 UTSW 9 108,070,731 (GRCm38) missense probably damaging 1.00
R5717:Rnf123 UTSW 9 108,067,424 (GRCm38) missense probably damaging 1.00
R6186:Rnf123 UTSW 9 108,069,958 (GRCm38) missense possibly damaging 0.55
R6449:Rnf123 UTSW 9 108,056,053 (GRCm38) missense probably benign 0.17
R6502:Rnf123 UTSW 9 108,068,332 (GRCm38) missense possibly damaging 0.46
R6944:Rnf123 UTSW 9 108,063,623 (GRCm38) missense probably benign 0.02
R7003:Rnf123 UTSW 9 108,063,683 (GRCm38) critical splice acceptor site probably null
R7088:Rnf123 UTSW 9 108,058,536 (GRCm38) missense probably null 1.00
R7092:Rnf123 UTSW 9 108,068,600 (GRCm38) missense probably benign 0.07
R7100:Rnf123 UTSW 9 108,056,639 (GRCm38) missense probably damaging 1.00
R7257:Rnf123 UTSW 9 108,069,029 (GRCm38) missense probably damaging 1.00
R7468:Rnf123 UTSW 9 108,069,009 (GRCm38) missense probably benign 0.00
R7517:Rnf123 UTSW 9 108,070,274 (GRCm38) nonsense probably null
R7577:Rnf123 UTSW 9 108,070,619 (GRCm38) missense probably damaging 1.00
R8296:Rnf123 UTSW 9 108,062,890 (GRCm38) missense probably damaging 1.00
R8322:Rnf123 UTSW 9 108,068,507 (GRCm38) missense probably benign 0.26
R8754:Rnf123 UTSW 9 108,071,164 (GRCm38) missense probably damaging 1.00
R8783:Rnf123 UTSW 9 108,069,073 (GRCm38) missense probably benign
R9052:Rnf123 UTSW 9 108,059,731 (GRCm38) missense probably damaging 1.00
R9156:Rnf123 UTSW 9 108,063,028 (GRCm38) splice site probably benign
R9170:Rnf123 UTSW 9 108,071,176 (GRCm38) missense probably damaging 1.00
R9332:Rnf123 UTSW 9 108,067,505 (GRCm38) missense probably benign 0.00
R9385:Rnf123 UTSW 9 108,052,268 (GRCm38) missense probably benign 0.02
R9394:Rnf123 UTSW 9 108,065,706 (GRCm38) missense probably damaging 1.00
R9432:Rnf123 UTSW 9 108,059,809 (GRCm38) missense probably damaging 0.96
R9717:Rnf123 UTSW 9 108,077,764 (GRCm38) missense probably benign 0.43
Z1176:Rnf123 UTSW 9 108,062,981 (GRCm38) missense probably damaging 1.00
Z1176:Rnf123 UTSW 9 108,058,395 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCATAATTCGTGGTGGTAAC -3'
(R):5'- TCTACGAGGTGCTCATCTCC -3'

Sequencing Primer
(F):5'- GGTAACATTCCACTTGCGCAC -3'
(R):5'- CTCATGCAGATCGGCTGGTG -3'
Posted On 2020-01-23