Incidental Mutation 'R5274:Rnf123'
ID 403831
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 042837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5274 (G1)
Quality Score 217
Status Not validated
Chromosome 9
Chromosomal Location 108051534-108083346 bp(-) (GRCm38)
Type of Mutation frame shift
DNA Base Change (assembly) AT to ATT at 108064003 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000162355] [ENSMUST00000162753] [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 noncoding transcript
Transcript: ENSMUST00000159136
Predicted Effect probably benign
Transcript: ENSMUST00000159306
SMART Domains Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
coiled coil region 172 192 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000160841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161673
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: ENSMUST00000162753
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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 98.0%
  • 20x: 96.9%
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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,235,659 (GRCm38) R155H probably benign Het
Ace T C 11: 105,968,037 (GRCm38) M19T probably benign Het
Agl A G 3: 116,772,486 (GRCm38) L995P probably damaging Het
AY761185 T C 8: 20,943,873 (GRCm38) N90S unknown Het
Brca2 T C 5: 150,539,689 (GRCm38) S973P probably benign Het
Cacna1e T C 1: 154,700,504 (GRCm38) T66A probably damaging Het
Cbarp T C 10: 80,131,815 (GRCm38) S531G possibly damaging Het
Cby2 A G 14: 75,583,226 (GRCm38) V362A probably benign Het
Cd96 G T 16: 46,069,703 (GRCm38) T319K possibly damaging Het
Ceacam23 T C 7: 17,915,717 (GRCm38) probably null Het
Chil5 A C 3: 106,028,853 (GRCm38) F41C probably damaging Het
Col24a1 A C 3: 145,484,678 (GRCm38) E1239D probably benign Het
Dip2b A G 15: 100,212,104 (GRCm38) E1490G possibly damaging Het
Dync1li1 T C 9: 114,715,205 (GRCm38) V315A possibly damaging Het
Dync2h1 T C 9: 7,116,540 (GRCm38) S99G probably benign Het
Dynlt5 A T 4: 103,002,571 (GRCm38) T103S possibly damaging Het
E2f8 C T 7: 48,867,177 (GRCm38) R818H probably damaging Het
Eomes T C 9: 118,480,529 (GRCm38) V250A probably damaging Het
Esyt3 T C 9: 99,318,297 (GRCm38) T615A probably benign Het
Fbxo38 A T 18: 62,515,069 (GRCm38) D799E probably damaging Het
Fdft1 A G 14: 63,152,343 (GRCm38) F288S probably damaging Het
Gm14325 G A 2: 177,832,984 (GRCm38) H102Y possibly damaging Het
Gm4871 C G 5: 145,030,370 (GRCm38) E185Q probably damaging Het
Gm5901 C A 7: 105,377,448 (GRCm38) P141Q probably damaging Het
Herc1 T A 9: 66,399,409 (GRCm38) I933N probably benign Het
Ifih1 T C 2: 62,611,718 (GRCm38) Q385R probably benign Het
Ighmbp2 T C 19: 3,265,518 (GRCm38) E634G probably damaging Het
Klk6 C G 7: 43,829,129 (GRCm38) probably null Het
Kmt2d A G 15: 98,854,230 (GRCm38) probably benign Het
Lig3 T A 11: 82,797,292 (GRCm38) probably null Het
Lrp1b T C 2: 41,344,444 (GRCm38) D310G probably null Het
Mroh6 A G 15: 75,885,000 (GRCm38) V571A possibly damaging Het
Olfm5 A G 7: 104,159,983 (GRCm38) S132P probably damaging Het
Or52n20 T C 7: 104,671,526 (GRCm38) S275P probably damaging Het
Or5p64 A T 7: 108,255,635 (GRCm38) F168I probably benign Het
Pacc1 T C 1: 191,348,468 (GRCm38) V295A probably damaging Het
Patj G C 4: 98,518,981 (GRCm38) S4T probably damaging Het
Pcdhga12 T A 18: 37,766,422 (GRCm38) C102* probably null Het
Pik3ap1 T C 19: 41,281,952 (GRCm38) D766G possibly damaging Het
Plch2 A T 4: 154,998,954 (GRCm38) L408Q probably damaging Het
Pnma2 G T 14: 66,916,760 (GRCm38) R211L probably damaging Het
Prkg2 T A 5: 98,969,991 (GRCm38) H468L probably damaging Het
Rad1 T A 15: 10,487,973 (GRCm38) probably null Het
Rims3 A G 4: 120,891,374 (GRCm38) D264G probably damaging Het
Rrm2 T A 12: 24,710,407 (GRCm38) Y75* probably null Het
Sall3 T C 18: 80,969,837 (GRCm38) N1128S probably benign Het
Slc26a5 T C 5: 21,813,901 (GRCm38) T610A possibly damaging Het
Snx29 G T 16: 11,738,404 (GRCm38) E766D probably damaging Het
Sox17 A G 1: 4,491,888 (GRCm38) V298A possibly damaging Het
Ss18 G A 18: 14,641,049 (GRCm38) Q228* probably null Het
Tas2r121 A G 6: 132,700,848 (GRCm38) S54P probably damaging Het
Ttc21b T C 2: 66,236,283 (GRCm38) E342G possibly damaging Het
Ubap2l A G 3: 90,012,730 (GRCm38) Y818H probably damaging Het
Usp15 C A 10: 123,168,351 (GRCm38) R166I probably damaging Het
Vmn1r34 T G 6: 66,637,139 (GRCm38) H205P probably damaging Het
Vmn2r22 A T 6: 123,650,634 (GRCm38) M1K probably null Het
Vps51 T G 19: 6,071,033 (GRCm38) E283D probably benign Het
Zdhhc1 T C 8: 105,483,770 (GRCm38) N5S probably benign Het
Zfp758 T A 17: 22,375,855 (GRCm38) C441S probably benign Het
Zp2 T C 7: 120,138,092 (GRCm38) E291G possibly damaging 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
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
R7453:Rnf123 UTSW 9 108,070,408 (GRCm38) splice site probably null
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'- TTGCCTACACGGAGAGAAGC -3'
(R):5'- TCCATGGGGCTCTCTAATGAG -3'

Sequencing Primer
(F):5'- AAGCCGGACCTGGGTCATAC -3'
(R):5'- GGCCCTCTGAGATGTAGACAG -3'
Posted On 2016-07-22