Incidental Mutation 'R6502:Rnf123'
ID 519802
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 044634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R6502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108051534-108083346 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 108068332 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 380 (Q380K)
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 possibly damaging
Transcript: ENSMUST00000047746
AA Change: Q380K

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: Q380K

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 possibly damaging
Transcript: ENSMUST00000160249
AA Change: Q380K

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: Q380K

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 benign
Transcript: ENSMUST00000160649
AA Change: Q380K

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: Q380K

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: ENSMUST00000161673
Predicted Effect probably benign
Transcript: ENSMUST00000161828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162152
Predicted Effect possibly damaging
Transcript: ENSMUST00000162355
AA Change: Q380K

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: Q380K

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 possibly damaging
Transcript: ENSMUST00000178267
AA Change: Q380K

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: Q380K

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,356,949 (GRCm38) I24K probably benign Het
Adamts9 A T 6: 92,872,335 (GRCm38) C467S probably damaging Het
Adcy7 G A 8: 88,325,479 (GRCm38) R925Q probably damaging Het
Akap6 G A 12: 53,140,215 (GRCm38) G1471S probably damaging Het
Ap2b1 T C 11: 83,342,679 (GRCm38) V506A probably damaging Het
Apob A G 12: 8,001,814 (GRCm38) I1113M probably damaging Het
Arsg A T 11: 109,517,336 (GRCm38) N105Y probably damaging Het
Blm T A 7: 80,481,475 (GRCm38) Y872F probably damaging Het
Btaf1 A T 19: 36,983,617 (GRCm38) N797Y probably benign Het
Camsap1 T C 2: 25,956,308 (GRCm38) E201G probably damaging Het
Ccdc122 T A 14: 77,042,069 (GRCm38) probably null Homo
Ccdc141 A G 2: 77,170,401 (GRCm38) V29A probably damaging Het
Cd244 T A 1: 171,577,879 (GRCm38) D277E probably benign Het
Cfap157 T C 2: 32,780,678 (GRCm38) Y186C probably damaging Het
Ciita C T 16: 10,511,910 (GRCm38) A686V probably damaging Het
Clptm1l T C 13: 73,617,765 (GRCm38) probably null Het
Col16a1 C T 4: 130,055,994 (GRCm38) P50L probably damaging Het
Crisp3 A T 17: 40,235,913 (GRCm38) V38D probably damaging Het
Cyfip2 T C 11: 46,221,346 (GRCm38) E1010G probably damaging Het
Dvl3 G A 16: 20,527,383 (GRCm38) E488K probably damaging Het
Eed C A 7: 89,977,029 (GRCm38) E45D probably benign Het
Eln A G 5: 134,725,774 (GRCm38) probably benign Het
Fah T A 7: 84,594,835 (GRCm38) I239F probably damaging Het
Fbxw5 T A 2: 25,502,436 (GRCm38) Y77N possibly damaging Het
Garnl3 T C 2: 33,006,821 (GRCm38) E602G possibly damaging Het
Gkn3 A T 6: 87,388,804 (GRCm38) M11K probably benign Het
Glt1d1 A G 5: 127,706,981 (GRCm38) Y333C probably damaging Het
Gm10762 A T 2: 128,967,170 (GRCm38) Y86* probably null Het
Gm14496 A G 2: 182,000,593 (GRCm38) M686V probably benign Het
Gse1 T A 8: 120,553,689 (GRCm38) probably null Het
Herc4 C A 10: 63,317,418 (GRCm38) T1035K probably benign Het
Hmcn2 T A 2: 31,382,478 (GRCm38) N1323K probably damaging Het
Hnrnpd T A 5: 99,966,166 (GRCm38) E3D probably damaging Het
Htr7 T A 19: 35,969,610 (GRCm38) I335F probably damaging Het
Itgae A T 11: 73,145,592 (GRCm38) I1119F probably benign Het
Lcn11 T C 2: 25,779,091 (GRCm38) F137S probably benign Het
Lrp3 T G 7: 35,203,988 (GRCm38) D311A possibly damaging Het
Lrrc1 G T 9: 77,442,191 (GRCm38) D364E probably damaging Het
Lrrc37a T A 11: 103,492,179 (GRCm38) E2456V unknown Het
Lrriq1 T C 10: 103,227,184 (GRCm38) Y87C probably damaging Het
Mcc A T 18: 44,468,390 (GRCm38) L449* probably null Het
Mcc A T 18: 44,468,391 (GRCm38) L624M probably damaging Het
Mcm9 T C 10: 53,612,839 (GRCm38) T496A probably damaging Het
Myef2 T A 2: 125,116,682 (GRCm38) D109V probably damaging Het
Myom3 C T 4: 135,762,513 (GRCm38) probably benign Het
Nanos1 G T 19: 60,756,539 (GRCm38) G92W possibly damaging Het
Ncor1 T A 11: 62,381,414 (GRCm38) K84* probably null Het
Neb T A 2: 52,291,082 (GRCm38) D1171V probably benign Het
Notch3 A G 17: 32,158,217 (GRCm38) W267R probably damaging Het
Olfr1167 A T 2: 88,150,016 (GRCm38) M1K probably null Het
Olfr26 A C 9: 38,855,637 (GRCm38) T192P probably damaging Het
Per2 A G 1: 91,427,763 (GRCm38) S758P probably benign Het
Pi4k2a A G 19: 42,090,932 (GRCm38) Q144R probably benign Het
Pirb A T 7: 3,717,393 (GRCm38) V327E probably benign Het
Pla2g4a C T 1: 149,872,616 (GRCm38) W272* probably null Het
Plekha4 T A 7: 45,530,576 (GRCm38) M1K probably null Het
Ppt2 A G 17: 34,625,920 (GRCm38) C117R probably damaging Het
Prph A T 15: 99,056,386 (GRCm38) I222F probably damaging Het
Rbm43 T C 2: 51,925,576 (GRCm38) D211G probably damaging Het
Rims2 A G 15: 39,534,855 (GRCm38) D1072G probably benign Het
Rnf145 T C 11: 44,525,105 (GRCm38) F49S probably damaging Het
Sall4 A G 2: 168,755,708 (GRCm38) I404T probably damaging Het
Slc25a39 G A 11: 102,404,460 (GRCm38) P228L probably damaging Het
Tbc1d14 T C 5: 36,520,481 (GRCm38) T377A possibly damaging Het
Tbc1d17 A G 7: 44,841,625 (GRCm38) I555T probably benign Het
Tmem131l A T 3: 83,922,408 (GRCm38) S980T probably damaging Het
Tmem14a G T 1: 21,229,438 (GRCm38) L97F possibly damaging Het
Tmem98 T C 11: 80,812,635 (GRCm38) V26A probably benign Het
Tmppe G T 9: 114,405,652 (GRCm38) G340W probably damaging Het
Tsc1 T C 2: 28,665,601 (GRCm38) S237P probably damaging Het
Ttc30b T A 2: 75,937,104 (GRCm38) N435I possibly damaging Het
Ubr4 C T 4: 139,444,671 (GRCm38) R2992W probably damaging Het
Ugt2a2 A G 5: 87,460,459 (GRCm38) V673A possibly damaging Het
Vmn2r19 T C 6: 123,316,108 (GRCm38) Y370H possibly damaging Het
Vmn2r20 A G 6: 123,396,383 (GRCm38) F500S possibly damaging Het
Zc3h7b A G 15: 81,769,051 (GRCm38) Y47C probably benign Het
Zdhhc13 A G 7: 48,815,560 (GRCm38) E406G possibly damaging Het
Zfp418 T C 7: 7,182,600 (GRCm38) S521P 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
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
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'- GAGGTATTACATGGCAGATCTGTC -3'
(R):5'- AGATCTTGGACCTCTTGTGGC -3'

Sequencing Primer
(F):5'- CATTGCTAAGCAGGAACTTGC -3'
(R):5'- CTCTTCATGGAGGTAAGATTTCTGAC -3'
Posted On 2018-06-06