Incidental Mutation 'R4767:Rnf123'
ID 366225
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 042408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R4767 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108051534-108083346 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108052089 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1257 (C1257F)
Ref Sequence ENSEMBL: ENSMUSP00000136953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000047746] [ENSMUST00000047947] [ENSMUST00000085060] [ENSMUST00000112295] [ENSMUST00000160249] [ENSMUST00000178267] [ENSMUST00000162355] [ENSMUST00000162753] [ENSMUST00000160649]
AlphaFold Q5XPI3
Predicted Effect probably benign
Transcript: ENSMUST00000035214
SMART Domains Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594

DomainStartEndE-ValueType
low complexity region 114 129 N/A INTRINSIC
Pfam:IPK 207 426 2.2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000047746
AA Change: C1263F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: C1263F

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: ENSMUST00000047947
SMART Domains Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284

DomainStartEndE-ValueType
Pfam:NTP_transferase 2 234 8e-48 PFAM
Pfam:NTP_transf_3 3 202 6.6e-12 PFAM
Pfam:Hexapep 259 294 1.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085060
SMART Domains Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 33 65 2.55e-2 SMART
LRR 65 83 6.97e1 SMART
LRR_TYP 84 107 1.56e-2 SMART
LRR 109 131 2.84e1 SMART
LRR 132 155 7.05e-1 SMART
LRR 156 176 3.98e1 SMART
LRR 182 206 5.56e0 SMART
Blast:LRRCT 219 274 8e-23 BLAST
IG 285 372 1.59e-6 SMART
transmembrane domain 383 405 N/A INTRINSIC
low complexity region 407 422 N/A INTRINSIC
low complexity region 492 504 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112295
SMART Domains Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284

DomainStartEndE-ValueType
Pfam:NTP_transferase 2 235 2.1e-51 PFAM
Pfam:NTP_transf_3 3 199 1.1e-11 PFAM
Pfam:Hexapep 259 294 9.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150700
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 noncoding transcript
Transcript: ENSMUST00000159523
Predicted Effect probably damaging
Transcript: ENSMUST00000160249
AA Change: C1257F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: C1257F

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 damaging
Transcript: ENSMUST00000178267
AA Change: C1257F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: C1257F

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 damaging
Transcript: ENSMUST00000162355
AA Change: C1263F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: C1263F

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: ENSMUST00000161673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159526
Predicted Effect probably benign
Transcript: ENSMUST00000162753
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.9697 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 95% (62/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,138,977 (GRCm38) probably null Het
Aig1 T C 10: 13,801,858 (GRCm38) N130S probably damaging Het
Alx1 A T 10: 103,025,186 (GRCm38) Y160* probably null Het
Ap4e1 T C 2: 127,060,438 (GRCm38) I755T probably benign Het
Apoc3 C A 9: 46,234,535 (GRCm38) E21* probably null Het
Atp9b G T 18: 80,753,070 (GRCm38) H919Q probably damaging Het
Cemip T G 7: 83,973,306 (GRCm38) Y555S probably damaging Het
Cic T C 7: 25,271,600 (GRCm38) V252A possibly damaging Het
Cracr2a A T 6: 127,611,507 (GRCm38) N210Y probably damaging Het
Crocc2 G A 1: 93,202,856 (GRCm38) R953Q possibly damaging Het
Csnk1d A G 11: 120,969,128 (GRCm38) S318P probably benign Het
Ddx21 A G 10: 62,591,972 (GRCm38) L384P probably damaging Het
Dnah5 C T 15: 28,270,474 (GRCm38) T974I probably benign Het
Duox1 A G 2: 122,333,441 (GRCm38) Y863C possibly damaging Het
Epg5 C A 18: 78,023,283 (GRCm38) P2133T possibly damaging Het
Ephb6 A T 6: 41,614,185 (GRCm38) Q92L possibly damaging Het
Ercc4 C A 16: 13,122,095 (GRCm38) A73D probably damaging Het
Eva1c A T 16: 90,904,347 (GRCm38) Y290F probably damaging Het
Galnt5 T A 2: 58,028,144 (GRCm38) V798E possibly damaging Het
Haus4 T C 14: 54,548,885 (GRCm38) E149G probably damaging Het
Ighv1-13 A G 12: 114,630,936 (GRCm38) Y86C unknown Het
Igkv9-120 G T 6: 68,050,367 (GRCm38) R88S possibly damaging Het
Lama3 T C 18: 12,500,563 (GRCm38) V1584A probably benign Het
Lamb1 A G 12: 31,308,011 (GRCm38) E1119G probably damaging Het
Lao1 T C 4: 118,967,988 (GRCm38) L335P probably damaging Het
Mindy4 A G 6: 55,260,565 (GRCm38) D375G probably damaging Het
Myo5a T C 9: 75,144,076 (GRCm38) I317T probably damaging Het
Nhlrc2 G A 19: 56,570,466 (GRCm38) V128I probably benign Het
Nlrp2 C T 7: 5,328,024 (GRCm38) D458N probably damaging Het
Olfr107 T A 17: 37,406,200 (GRCm38) C217* probably null Het
Olfr1497 A T 19: 13,795,045 (GRCm38) C189S probably damaging Het
Olfr347 A T 2: 36,734,323 (GRCm38) M1L probably benign Het
Olfr76 G T 19: 12,119,936 (GRCm38) H247N probably damaging Het
Olfr938 T C 9: 39,078,692 (GRCm38) T18A possibly damaging Het
Parp8 T C 13: 116,868,536 (GRCm38) H663R probably damaging Het
Pax6 T C 2: 105,695,360 (GRCm38) S377P probably benign Het
Pi15 A G 1: 17,602,766 (GRCm38) D63G probably benign Het
Plaa A G 4: 94,586,258 (GRCm38) probably benign Het
Rbm5 C A 9: 107,745,213 (GRCm38) W546C probably damaging Het
Rnf185 A G 11: 3,432,551 (GRCm38) S45P possibly damaging Het
Sh3bp1 T C 15: 78,904,497 (GRCm38) S241P possibly damaging Het
Slfn8 G A 11: 83,003,197 (GRCm38) A872V possibly damaging Het
Smoc1 G A 12: 81,104,773 (GRCm38) probably null Het
Sox14 A T 9: 99,875,633 (GRCm38) W18R probably damaging Het
Spata31d1a T C 13: 59,701,155 (GRCm38) E1053G probably benign Het
Syne1 T A 10: 5,344,866 (GRCm38) K1246* probably null Het
Tbrg4 A C 11: 6,620,909 (GRCm38) S188A probably benign Het
Thnsl2 A T 6: 71,134,295 (GRCm38) D196E probably damaging Het
Tmem266 C T 9: 55,380,741 (GRCm38) T34I probably damaging Het
Tmem59l C A 8: 70,486,098 (GRCm38) R111L probably benign Het
Tpr T C 1: 150,430,529 (GRCm38) probably benign Het
Trpc6 T C 9: 8,643,686 (GRCm38) S491P probably damaging Het
Tspan10 A T 11: 120,446,166 (GRCm38) N254I probably damaging Het
Ubox5 A T 2: 130,591,894 (GRCm38) L511Q probably damaging Het
Vmn1r183 TATCCATC TATC 7: 24,055,106 (GRCm38) probably null Het
Vmn2r4 C T 3: 64,390,976 (GRCm38) C577Y probably damaging Het
Vmn2r86 A T 10: 130,455,737 (GRCm38) M53K probably benign Het
Zfp948 T A 17: 21,588,307 (GRCm38) I587N 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
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
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'- GCTTTGCAGAAGAAGCAGTCC -3'
(R):5'- ACAGATTATATCAGCGCTGAGG -3'

Sequencing Primer
(F):5'- CAGAAGAAGCAGTCCTTGTTGTTC -3'
(R):5'- TGGAACAGATGCTGGCTCAC -3'
Posted On 2015-12-21