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: 0.171) question?
Stock # R6502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107928869-107957183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107945531 bp (GRCm39)
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] [ENSMUST00000178267] [ENSMUST00000174504] [ENSMUST00000162516]
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 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 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
Predicted Effect probably benign
Transcript: ENSMUST00000174504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162152
Predicted Effect probably benign
Transcript: ENSMUST00000162516
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: 124,333,908 (GRCm39) I24K probably benign Het
Adamts9 A T 6: 92,849,316 (GRCm39) C467S probably damaging Het
Adcy7 G A 8: 89,052,107 (GRCm39) R925Q probably damaging Het
Akap6 G A 12: 53,186,998 (GRCm39) G1471S probably damaging Het
Ap2b1 T C 11: 83,233,505 (GRCm39) V506A probably damaging Het
Apob A G 12: 8,051,814 (GRCm39) I1113M probably damaging Het
Arsg A T 11: 109,408,162 (GRCm39) N105Y probably damaging Het
Blm T A 7: 80,131,223 (GRCm39) Y872F probably damaging Het
Btaf1 A T 19: 36,961,017 (GRCm39) N797Y probably benign Het
Camsap1 T C 2: 25,846,320 (GRCm39) E201G probably damaging Het
Ccdc122 T A 14: 77,279,509 (GRCm39) probably null Homo
Ccdc141 A G 2: 77,000,745 (GRCm39) V29A probably damaging Het
Cd244a T A 1: 171,405,447 (GRCm39) D277E probably benign Het
Cfap157 T C 2: 32,670,690 (GRCm39) Y186C probably damaging Het
Ciita C T 16: 10,329,774 (GRCm39) A686V probably damaging Het
Clptm1l T C 13: 73,765,884 (GRCm39) probably null Het
Col16a1 C T 4: 129,949,787 (GRCm39) P50L probably damaging Het
Crisp3 A T 17: 40,546,804 (GRCm39) V38D probably damaging Het
Cyfip2 T C 11: 46,112,173 (GRCm39) E1010G probably damaging Het
Dvl3 G A 16: 20,346,133 (GRCm39) E488K probably damaging Het
Eed C A 7: 89,626,237 (GRCm39) E45D probably benign Het
Eln A G 5: 134,754,628 (GRCm39) probably benign Het
Fah T A 7: 84,244,043 (GRCm39) I239F probably damaging Het
Fbxw5 T A 2: 25,392,448 (GRCm39) Y77N possibly damaging Het
Garnl3 T C 2: 32,896,833 (GRCm39) E602G possibly damaging Het
Gkn3 A T 6: 87,365,786 (GRCm39) M11K probably benign Het
Glt1d1 A G 5: 127,784,045 (GRCm39) Y333C probably damaging Het
Gm10762 A T 2: 128,809,090 (GRCm39) Y86* probably null Het
Gm14496 A G 2: 181,642,386 (GRCm39) M686V probably benign Het
Gse1 T A 8: 121,280,428 (GRCm39) probably null Het
Herc4 C A 10: 63,153,197 (GRCm39) T1035K probably benign Het
Hmcn2 T A 2: 31,272,490 (GRCm39) N1323K probably damaging Het
Hnrnpd T A 5: 100,114,025 (GRCm39) E3D probably damaging Het
Htr7 T A 19: 35,947,010 (GRCm39) I335F probably damaging Het
Ift70b T A 2: 75,767,448 (GRCm39) N435I possibly damaging Het
Itgae A T 11: 73,036,418 (GRCm39) I1119F probably benign Het
Lcn11 T C 2: 25,669,103 (GRCm39) F137S probably benign Het
Lrp3 T G 7: 34,903,413 (GRCm39) D311A possibly damaging Het
Lrrc1 G T 9: 77,349,473 (GRCm39) D364E probably damaging Het
Lrrc37a T A 11: 103,383,005 (GRCm39) E2456V unknown Het
Lrriq1 T C 10: 103,063,045 (GRCm39) Y87C probably damaging Het
Mcc A T 18: 44,601,457 (GRCm39) L449* probably null Het
Mcc A T 18: 44,601,458 (GRCm39) L624M probably damaging Het
Mcm9 T C 10: 53,488,935 (GRCm39) T496A probably damaging Het
Myef2 T A 2: 124,958,602 (GRCm39) D109V probably damaging Het
Myom3 C T 4: 135,489,824 (GRCm39) probably benign Het
Nanos1 G T 19: 60,744,977 (GRCm39) G92W possibly damaging Het
Ncor1 T A 11: 62,272,240 (GRCm39) K84* probably null Het
Neb T A 2: 52,181,094 (GRCm39) D1171V probably benign Het
Notch3 A G 17: 32,377,191 (GRCm39) W267R probably damaging Het
Or5d39 A T 2: 87,980,360 (GRCm39) M1K probably null Het
Or8d1 A C 9: 38,766,933 (GRCm39) T192P probably damaging Het
Per2 A G 1: 91,355,485 (GRCm39) S758P probably benign Het
Pi4k2a A G 19: 42,079,371 (GRCm39) Q144R probably benign Het
Pirb A T 7: 3,720,392 (GRCm39) V327E probably benign Het
Pla2g4a C T 1: 149,748,367 (GRCm39) W272* probably null Het
Plekha4 T A 7: 45,180,000 (GRCm39) M1K probably null Het
Ppt2 A G 17: 34,844,894 (GRCm39) C117R probably damaging Het
Prph A T 15: 98,954,267 (GRCm39) I222F probably damaging Het
Rbm43 T C 2: 51,815,588 (GRCm39) D211G probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Rnf145 T C 11: 44,415,932 (GRCm39) F49S probably damaging Het
Sall4 A G 2: 168,597,628 (GRCm39) I404T probably damaging Het
Slc25a39 G A 11: 102,295,286 (GRCm39) P228L probably damaging Het
Tbc1d14 T C 5: 36,677,825 (GRCm39) T377A possibly damaging Het
Tbc1d17 A G 7: 44,491,049 (GRCm39) I555T probably benign Het
Tmem131l A T 3: 83,829,715 (GRCm39) S980T probably damaging Het
Tmem14a G T 1: 21,299,662 (GRCm39) L97F possibly damaging Het
Tmem98 T C 11: 80,703,461 (GRCm39) V26A probably benign Het
Tmppe G T 9: 114,234,720 (GRCm39) G340W probably damaging Het
Tsc1 T C 2: 28,555,613 (GRCm39) S237P probably damaging Het
Ubr4 C T 4: 139,171,982 (GRCm39) R2992W probably damaging Het
Ugt2a2 A G 5: 87,608,318 (GRCm39) V673A possibly damaging Het
Vmn2r19 T C 6: 123,293,067 (GRCm39) Y370H possibly damaging Het
Vmn2r20 A G 6: 123,373,342 (GRCm39) F500S possibly damaging Het
Zc3h7b A G 15: 81,653,252 (GRCm39) Y47C probably benign Het
Zdhhc13 A G 7: 48,465,308 (GRCm39) E406G possibly damaging Het
Zfp418 T C 7: 7,185,599 (GRCm39) S521P possibly 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
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'- GAGGTATTACATGGCAGATCTGTC -3'
(R):5'- AGATCTTGGACCTCTTGTGGC -3'

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