Incidental Mutation 'R1502:Rnf123'
ID 169374
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 039552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R1502 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107928869-107957183 bp(-) (GRCm39)
Type of Mutation splice site (2709 bp from exon)
DNA Base Change (assembly) T to C at 107945709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000161828] [ENSMUST00000162355] [ENSMUST00000178267] [ENSMUST00000174504] [ENSMUST00000162516]
AlphaFold Q5XPI3
Predicted Effect probably benign
Transcript: ENSMUST00000047746
AA Change: H359R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: H359R

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: ENSMUST00000160249
AA Change: H359R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: H359R

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: H359R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: H359R

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 null
Transcript: ENSMUST00000161828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162152
Predicted Effect probably benign
Transcript: ENSMUST00000162355
AA Change: H359R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: H359R

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: ENSMUST00000178267
AA Change: H359R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: H359R

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: ENSMUST00000174504
Predicted Effect probably null
Transcript: ENSMUST00000162516
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.4%
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
Abca8b T G 11: 109,865,471 (GRCm39) T329P probably damaging Het
Adamts4 C A 1: 171,086,559 (GRCm39) P784T probably damaging Het
Adamts6 T C 13: 104,630,145 (GRCm39) L1096P probably damaging Het
Ap1b1 A G 11: 4,990,290 (GRCm39) S849G probably benign Het
Arap2 T C 5: 62,761,747 (GRCm39) S1660G probably benign Het
Atp10b A C 11: 43,121,174 (GRCm39) T946P probably damaging Het
Brpf1 A G 6: 113,299,381 (GRCm39) D1103G probably damaging Het
Bub1 A G 2: 127,669,339 (GRCm39) Y102H probably damaging Het
Ccdc182 A G 11: 88,185,193 (GRCm39) E91G probably benign Het
Cd200r4 C T 16: 44,653,803 (GRCm39) T154M probably damaging Het
Cdh20 A G 1: 104,881,755 (GRCm39) T407A probably benign Het
Col6a2 T C 10: 76,450,512 (GRCm39) I140V probably benign Het
Csn3 C A 5: 88,077,983 (GRCm39) T163K probably damaging Het
Dars2 A T 1: 160,874,375 (GRCm39) L438* probably null Het
Dbr1 T C 9: 99,464,440 (GRCm39) L289P probably damaging Het
Ddx46 A G 13: 55,811,122 (GRCm39) R573G possibly damaging Het
Defb10 T C 8: 22,348,972 (GRCm39) I10T possibly damaging Het
Dis3l T C 9: 64,233,069 (GRCm39) E136G possibly damaging Het
Dnajb13 T C 7: 100,156,668 (GRCm39) Q136R probably benign Het
Dse A T 10: 34,029,214 (GRCm39) S625R probably damaging Het
Dvl3 A G 16: 20,342,209 (GRCm39) D94G probably damaging Het
Dynlt2a2 A G 17: 15,187,876 (GRCm39) F133L probably benign Het
E130311K13Rik A C 3: 63,822,968 (GRCm39) Y225* probably null Het
Etnppl A G 3: 130,422,438 (GRCm39) I222V probably benign Het
Evc2 T C 5: 37,550,440 (GRCm39) L818P probably benign Het
Fbn1 A T 2: 125,205,626 (GRCm39) C1083* probably null Het
Flnc G A 6: 29,438,693 (GRCm39) V196I probably benign Het
Fscn3 A G 6: 28,435,622 (GRCm39) D415G probably benign Het
Gm4861 A C 3: 137,256,381 (GRCm39) V75G probably damaging Het
Gpld1 A T 13: 25,155,399 (GRCm39) T345S probably benign Het
Grik4 T C 9: 42,432,169 (GRCm39) S943G probably damaging Het
Grik4 C T 9: 42,502,743 (GRCm39) R460Q probably benign Het
Ifi207 A C 1: 173,556,872 (GRCm39) L629R possibly damaging Het
Ift52 G A 2: 162,871,782 (GRCm39) probably null Het
Insl3 A G 8: 72,142,876 (GRCm39) D79G probably damaging Het
Kif5a A T 10: 127,081,310 (GRCm39) I208N probably damaging Het
Lag3 T C 6: 124,886,206 (GRCm39) Y249C probably damaging Het
Lipe T C 7: 25,097,572 (GRCm39) N124D possibly damaging Het
Lnpep A G 17: 17,791,906 (GRCm39) Y412H probably damaging Het
Lrtm2 A G 6: 119,294,235 (GRCm39) Y299H probably benign Het
Lypd4 T C 7: 24,566,253 (GRCm39) T24A probably benign Het
Magi1 T A 6: 93,671,151 (GRCm39) I805F probably damaging Het
Mfap3 T C 11: 57,418,975 (GRCm39) L45P probably benign Het
Nbea G A 3: 55,912,310 (GRCm39) P1159L probably benign Het
Ndst4 A T 3: 125,231,407 (GRCm39) probably benign Het
Notch1 A T 2: 26,374,335 (GRCm39) N229K possibly damaging Het
Nova1 A G 12: 46,767,615 (GRCm39) I102T unknown Het
Npepps T C 11: 97,109,401 (GRCm39) E725G possibly damaging Het
Or11g27 A T 14: 50,771,234 (GRCm39) M122L possibly damaging Het
Or13a1 T C 6: 116,471,242 (GRCm39) I224T probably damaging Het
Or5l14 T C 2: 87,792,379 (GRCm39) N286D probably damaging Het
Or6c69c T C 10: 129,910,741 (GRCm39) I154T probably damaging Het
Pappa2 A T 1: 158,784,858 (GRCm39) W51R probably damaging Het
Pde8a T C 7: 80,942,007 (GRCm39) S149P probably damaging Het
Pgap6 A G 17: 26,339,290 (GRCm39) T535A possibly damaging Het
Phkb T A 8: 86,785,968 (GRCm39) L1052Q possibly damaging Het
Pou5f2 T A 13: 78,173,370 (GRCm39) L104Q probably benign Het
Pramel32 T A 4: 88,546,269 (GRCm39) I358F probably benign Het
Psme2b A T 11: 48,836,576 (GRCm39) W124R probably damaging Het
Ptk2b G A 14: 66,400,529 (GRCm39) S762L possibly damaging Het
Ptprs T C 17: 56,744,992 (GRCm39) N248S probably benign Het
Rgs22 G A 15: 36,080,997 (GRCm39) T705I probably damaging Het
Sel1l2 A T 2: 140,231,515 (GRCm39) I13N probably damaging Het
Slc39a4 T C 15: 76,500,793 (GRCm39) T57A probably benign Het
Smpdl3a T G 10: 57,685,187 (GRCm39) V319G probably damaging Het
Syt9 T C 7: 107,035,694 (GRCm39) L237P probably damaging Het
Tbc1d16 G T 11: 119,044,830 (GRCm39) A536E probably damaging Het
Tcf20 T C 15: 82,739,777 (GRCm39) D558G probably damaging Het
Tdpoz2 A T 3: 93,559,453 (GRCm39) M173K probably benign Het
Tek A G 4: 94,669,339 (GRCm39) I113M probably damaging Het
Tmem50a A T 4: 134,636,980 (GRCm39) D50E probably benign Het
Trappc11 A T 8: 47,983,862 (GRCm39) V10E possibly damaging Het
Vmn1r172 C T 7: 23,359,681 (GRCm39) R189* probably null Het
Vmn2r63 A T 7: 42,578,015 (GRCm39) D174E possibly damaging Het
Zc3h10 A T 10: 128,380,151 (GRCm39) M402K probably damaging Het
Zfp109 T C 7: 23,927,588 (GRCm39) H615R probably damaging Het
Zfp982 A C 4: 147,597,126 (GRCm39) H161P probably benign Het
Zhx1 A G 15: 57,917,992 (GRCm39) F85L probably damaging Het
Other mutations in Rnf123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Rnf123 APN 9 107,944,594 (GRCm39) critical splice donor site probably null
IGL01358:Rnf123 APN 9 107,946,381 (GRCm39) missense probably damaging 1.00
IGL01464:Rnf123 APN 9 107,929,501 (GRCm39) missense probably damaging 1.00
IGL01637:Rnf123 APN 9 107,935,437 (GRCm39) missense probably damaging 1.00
IGL01669:Rnf123 APN 9 107,935,555 (GRCm39) missense probably damaging 0.98
IGL01905:Rnf123 APN 9 107,948,569 (GRCm39) splice site probably benign
IGL02070:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02072:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02073:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02074:Rnf123 APN 9 107,944,088 (GRCm39) missense probably damaging 1.00
IGL02079:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02080:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02231:Rnf123 APN 9 107,943,598 (GRCm39) missense probably benign 0.17
IGL02281:Rnf123 APN 9 107,948,651 (GRCm39) missense probably benign 0.01
IGL02336:Rnf123 APN 9 107,939,041 (GRCm39) missense probably damaging 1.00
IGL02543:Rnf123 APN 9 107,943,547 (GRCm39) missense probably damaging 1.00
IGL02565:Rnf123 APN 9 107,929,411 (GRCm39) critical splice donor site probably null
IGL02571:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02572:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02574:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02586:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02589:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02600:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02601:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02602:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02603:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02609:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02628:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02629:Rnf123 APN 9 107,947,988 (GRCm39) splice site probably benign
IGL02629:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02630:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02631:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02632:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02650:Rnf123 APN 9 107,946,947 (GRCm39) missense probably benign 0.29
IGL02690:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02691:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02692:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02693:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02713:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02736:Rnf123 APN 9 107,945,501 (GRCm39) nonsense probably null
IGL02929:Rnf123 APN 9 107,946,275 (GRCm39) missense probably benign
R1175:Rnf123 UTSW 9 107,954,572 (GRCm39) missense probably benign
R1465:Rnf123 UTSW 9 107,948,665 (GRCm39) splice site probably benign
R1682:Rnf123 UTSW 9 107,954,597 (GRCm39) missense probably benign 0.16
R1817:Rnf123 UTSW 9 107,940,125 (GRCm39) missense probably benign 0.41
R1855:Rnf123 UTSW 9 107,938,990 (GRCm39) missense probably damaging 1.00
R2394:Rnf123 UTSW 9 107,940,735 (GRCm39) missense probably benign 0.00
R2483:Rnf123 UTSW 9 107,940,720 (GRCm39) missense probably benign 0.16
R3896:Rnf123 UTSW 9 107,946,302 (GRCm39) splice site probably benign
R3940:Rnf123 UTSW 9 107,941,234 (GRCm39) splice site probably benign
R4206:Rnf123 UTSW 9 107,941,162 (GRCm39) missense probably benign 0.01
R4641:Rnf123 UTSW 9 107,935,786 (GRCm39) missense probably damaging 1.00
R4714:Rnf123 UTSW 9 107,929,638 (GRCm39) splice site probably null
R4767:Rnf123 UTSW 9 107,929,288 (GRCm39) missense probably damaging 1.00
R4849:Rnf123 UTSW 9 107,933,290 (GRCm39) missense probably damaging 1.00
R4899:Rnf123 UTSW 9 107,940,879 (GRCm39) missense probably damaging 1.00
R5274:Rnf123 UTSW 9 107,941,202 (GRCm39) frame shift probably null
R5275:Rnf123 UTSW 9 107,941,202 (GRCm39) frame shift probably null
R5276:Rnf123 UTSW 9 107,941,202 (GRCm39) frame shift probably null
R5294:Rnf123 UTSW 9 107,941,202 (GRCm39) frame shift probably null
R5295:Rnf123 UTSW 9 107,941,202 (GRCm39) frame shift probably null
R5394:Rnf123 UTSW 9 107,947,930 (GRCm39) missense probably damaging 1.00
R5717:Rnf123 UTSW 9 107,944,623 (GRCm39) missense probably damaging 1.00
R6186:Rnf123 UTSW 9 107,947,157 (GRCm39) missense possibly damaging 0.55
R6449:Rnf123 UTSW 9 107,933,252 (GRCm39) missense probably benign 0.17
R6502:Rnf123 UTSW 9 107,945,531 (GRCm39) missense possibly damaging 0.46
R6944:Rnf123 UTSW 9 107,940,822 (GRCm39) missense probably benign 0.02
R7003:Rnf123 UTSW 9 107,940,882 (GRCm39) critical splice acceptor site probably null
R7088:Rnf123 UTSW 9 107,935,735 (GRCm39) missense probably null 1.00
R7092:Rnf123 UTSW 9 107,945,799 (GRCm39) missense probably benign 0.07
R7100:Rnf123 UTSW 9 107,933,838 (GRCm39) missense probably damaging 1.00
R7257:Rnf123 UTSW 9 107,946,228 (GRCm39) missense probably damaging 1.00
R7453:Rnf123 UTSW 9 107,947,607 (GRCm39) splice site probably null
R7468:Rnf123 UTSW 9 107,946,208 (GRCm39) missense probably benign 0.00
R7517:Rnf123 UTSW 9 107,947,473 (GRCm39) nonsense probably null
R7577:Rnf123 UTSW 9 107,947,818 (GRCm39) missense probably damaging 1.00
R8296:Rnf123 UTSW 9 107,940,089 (GRCm39) missense probably damaging 1.00
R8322:Rnf123 UTSW 9 107,945,706 (GRCm39) missense probably benign 0.26
R8754:Rnf123 UTSW 9 107,948,363 (GRCm39) missense probably damaging 1.00
R8783:Rnf123 UTSW 9 107,946,272 (GRCm39) missense probably benign
R9052:Rnf123 UTSW 9 107,936,930 (GRCm39) missense probably damaging 1.00
R9156:Rnf123 UTSW 9 107,940,227 (GRCm39) splice site probably benign
R9170:Rnf123 UTSW 9 107,948,375 (GRCm39) missense probably damaging 1.00
R9332:Rnf123 UTSW 9 107,944,704 (GRCm39) missense probably benign 0.00
R9385:Rnf123 UTSW 9 107,929,467 (GRCm39) missense probably benign 0.02
R9394:Rnf123 UTSW 9 107,942,905 (GRCm39) missense probably damaging 1.00
R9432:Rnf123 UTSW 9 107,937,008 (GRCm39) missense probably damaging 0.96
R9717:Rnf123 UTSW 9 107,954,963 (GRCm39) missense probably benign 0.43
Z1176:Rnf123 UTSW 9 107,940,180 (GRCm39) missense probably damaging 1.00
Z1176:Rnf123 UTSW 9 107,935,594 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTCCTGGCTTGACGAACACTG -3'
(R):5'- TGACTGAGCCTGCTTCTTCAACAC -3'

Sequencing Primer
(F):5'- TCTGTCTGGCAACAGGATAC -3'
(R):5'- AACTTTACTAGTGCCTGCCC -3'
Posted On 2014-04-13