Incidental Mutation 'R8754:Rnf123'
ID 664047
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 068620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R8754 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107928869-107957183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107948363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 110 (D110V)
Ref Sequence ENSEMBL: ENSMUSP00000125745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000161828] [ENSMUST00000162355] [ENSMUST00000162516] [ENSMUST00000174504] [ENSMUST00000178267]
AlphaFold Q5XPI3
Predicted Effect probably damaging
Transcript: ENSMUST00000047746
AA Change: D110V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: D110V

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 damaging
Transcript: ENSMUST00000160249
AA Change: D110V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: D110V

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: ENSMUST00000160649
AA Change: D110V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: D110V

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 damaging
Transcript: ENSMUST00000161828
AA Change: D110V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000162355
AA Change: D110V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: D110V

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 damaging
Transcript: ENSMUST00000178267
AA Change: D110V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: D110V

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: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (67/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,771,798 (GRCm39) V329A probably benign Het
A830018L16Rik G T 1: 11,615,472 (GRCm39) K148N probably benign Het
Actn3 A G 19: 4,913,488 (GRCm39) F648L probably damaging Het
Amotl2 A G 9: 102,597,358 (GRCm39) D39G possibly damaging Het
Anks1 C A 17: 28,214,984 (GRCm39) T477K possibly damaging Het
Brix1 A T 15: 10,476,664 (GRCm39) S271T probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Chrna6 T C 8: 27,897,229 (GRCm39) H216R probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Copa C T 1: 171,935,926 (GRCm39) R423W probably damaging Het
Cttnbp2 A C 6: 18,434,037 (GRCm39) I607R possibly damaging Het
Depdc5 A T 5: 33,136,881 (GRCm39) T1384S probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dusp26 C T 8: 31,581,805 (GRCm39) probably benign Het
Eif1ad13 T A 12: 87,762,569 (GRCm39) N96K possibly damaging Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fuca1 T C 4: 135,652,889 (GRCm39) L171P probably damaging Het
Gpr158 G A 2: 21,581,693 (GRCm39) V391I probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Heatr1 T A 13: 12,428,175 (GRCm39) Y771N probably damaging Het
Il17ra A G 6: 120,458,417 (GRCm39) T523A probably benign Het
Kcnv1 G A 15: 44,977,865 (GRCm39) Q58* probably null Het
Kdm5d T C Y: 941,594 (GRCm39) V1265A probably damaging Het
Kifc3 A T 8: 95,829,024 (GRCm39) L726Q probably damaging Het
Klk1b21 T A 7: 43,755,912 (GRCm39) I247N probably benign Het
Kntc1 T A 5: 123,897,115 (GRCm39) N159K probably benign Het
Krtap4-7 G T 11: 99,534,667 (GRCm39) C65* probably null Het
Lama2 C T 10: 26,877,147 (GRCm39) V2680M possibly damaging Het
Lipe T A 7: 25,088,007 (GRCm39) M61L probably benign Het
Med17 A G 9: 15,188,896 (GRCm39) M123T possibly damaging Het
Mrpl37 T C 4: 106,921,611 (GRCm39) N206S probably benign Het
Muc4 A T 16: 32,602,356 (GRCm39) N1390Y Het
Muc5ac C T 7: 141,354,008 (GRCm39) A869V possibly damaging Het
Nckap5l A G 15: 99,327,290 (GRCm39) V133A probably benign Het
Nin A T 12: 70,077,787 (GRCm39) probably benign Het
Nr1h2 C T 7: 44,200,768 (GRCm39) A287T probably damaging Het
Or8c16 A T 9: 38,130,865 (GRCm39) I246L possibly damaging Het
Patl1 A G 19: 11,899,898 (GRCm39) E230G probably damaging Het
Pbxip1 T C 3: 89,355,235 (GRCm39) S585P probably damaging Het
Pde3b T A 7: 114,015,278 (GRCm39) W165R possibly damaging Het
Pdia4 A C 6: 47,773,464 (GRCm39) D628E probably benign Het
Pigo T A 4: 43,024,724 (GRCm39) H125L probably benign Het
Platr25 A T 13: 62,847,924 (GRCm39) *313K probably null Het
Plxdc1 A T 11: 97,846,337 (GRCm39) M169K possibly damaging Het
Pxk T C 14: 8,151,496 (GRCm38) I437T probably damaging Het
Rlf T C 4: 121,004,010 (GRCm39) T1767A possibly damaging Het
Rnf185 A T 11: 3,368,052 (GRCm39) F209I probably benign Het
Rpl4 A T 9: 64,082,242 (GRCm39) N47I probably damaging Het
Rsl1d1 A T 16: 11,017,512 (GRCm39) F151L probably damaging Het
Sema3d T C 5: 12,603,191 (GRCm39) probably null Het
Serhl A G 15: 82,986,126 (GRCm39) N80D probably benign Het
Sh3tc1 C A 5: 35,863,802 (GRCm39) R795L probably benign Het
Slc2a12 A T 10: 22,521,116 (GRCm39) T7S probably benign Het
Snrnp200 A G 2: 127,068,005 (GRCm39) Y834C probably damaging Het
Ss18 G C 18: 14,774,016 (GRCm39) Q258E probably damaging Het
Telo2 G A 17: 25,321,041 (GRCm39) L725F probably damaging Het
Tnxb A G 17: 34,934,882 (GRCm39) E2497G probably damaging Het
Tox2 A G 2: 163,163,360 (GRCm39) D111G Het
Trim16 G A 11: 62,731,763 (GRCm39) E545K probably benign Het
Trpm7 A G 2: 126,664,623 (GRCm39) W919R probably damaging Het
Ttbk1 G T 17: 46,756,127 (GRCm39) S1301* probably null Het
Txk T C 5: 72,889,122 (GRCm39) N144S probably damaging Het
Ubqln4 T A 3: 88,473,090 (GRCm39) V515E probably benign Het
Ush2a C T 1: 188,581,162 (GRCm39) R3681* probably null Het
Ythdf3 A T 3: 16,258,138 (GRCm39) N106I probably damaging Het
Zfp367 A T 13: 64,292,069 (GRCm39) C187* probably null Het
Zfp735 A G 11: 73,603,000 (GRCm39) D648G possibly damaging Het
Zic1 T C 9: 91,244,701 (GRCm39) probably benign Het
Zik1 A G 7: 10,223,826 (GRCm39) S424P 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
R1502:Rnf123 UTSW 9 107,945,709 (GRCm39) splice site probably null
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
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'- ACAGACATGATGGGACTCTGGG -3'
(R):5'- TCAAAGCCTGGAGTTCTCTGC -3'

Sequencing Primer
(F):5'- ACTCTGGGCTTTGCTGAAAG -3'
(R):5'- GGAGTTCTCTGCACAGCTCATG -3'
Posted On 2021-03-08