Incidental Mutation 'R8296:Rnf123'
ID 638954
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 067785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R8296 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107928869-107957183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107940089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 768 (V768D)
Ref Sequence ENSEMBL: ENSMUSP00000125745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000162355] [ENSMUST00000162753] [ENSMUST00000178267]
AlphaFold Q5XPI3
Predicted Effect probably damaging
Transcript: ENSMUST00000047746
AA Change: V768D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: V768D

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: ENSMUST00000159306
SMART Domains Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
coiled coil region 172 192 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160249
AA Change: V762D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: V762D

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: V762D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: V762D

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: ENSMUST00000162355
AA Change: V768D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: V768D

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: ENSMUST00000162753
Predicted Effect probably damaging
Transcript: ENSMUST00000178267
AA Change: V762D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: V762D

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,415,896 (GRCm39) L663Q probably damaging Het
2610008E11Rik C G 10: 78,903,568 (GRCm39) R249S probably benign Het
6030469F06Rik A G 12: 31,235,058 (GRCm39) N146S noncoding transcript Het
Abcb5 G A 12: 118,838,467 (GRCm39) P1032S probably benign Het
Acvr2a A T 2: 48,789,736 (GRCm39) D493V possibly damaging Het
Amacr A G 15: 10,995,004 (GRCm39) D272G probably benign Het
Bach1 A C 16: 87,526,467 (GRCm39) K643T probably damaging Het
Bmt2 T C 6: 13,628,672 (GRCm39) Y337C probably damaging Het
Bsn A G 9: 107,994,578 (GRCm39) S566P probably benign Het
Cass4 A C 2: 172,269,094 (GRCm39) D392A probably benign Het
Cbx2 A G 11: 118,918,954 (GRCm39) E173G probably damaging Het
Ccdc166 G C 15: 75,852,860 (GRCm39) A369G probably benign Het
Ccdc77 G A 6: 120,308,870 (GRCm39) T315M possibly damaging Het
Ceacam10 C A 7: 24,480,513 (GRCm39) H215N unknown Het
Ces1e C T 8: 93,929,947 (GRCm39) M445I probably benign Het
Ces2b T G 8: 105,563,112 (GRCm39) V350G possibly damaging Het
Chtf18 A G 17: 25,941,165 (GRCm39) L611P probably benign Het
Col9a1 C A 1: 24,217,380 (GRCm39) P19T unknown Het
Csf1r A T 18: 61,250,750 (GRCm39) N487I probably damaging Het
Csl A T 10: 99,594,161 (GRCm39) H301Q probably damaging Het
Cyp24a1 G A 2: 170,332,036 (GRCm39) T330M probably damaging Het
Ddb2 T C 2: 91,042,645 (GRCm39) D405G probably damaging Het
Degs1 A G 1: 182,110,241 (GRCm39) F10L probably benign Het
Dhrs2 T A 14: 55,477,928 (GRCm39) I220N probably damaging Het
Dlg5 T C 14: 24,198,328 (GRCm39) D1535G possibly damaging Het
Dpy19l1 A G 9: 24,414,372 (GRCm39) S19P probably benign Het
Eif3l A C 15: 78,963,220 (GRCm39) E134A possibly damaging Het
Epb41 C A 4: 131,664,772 (GRCm39) V90L Het
Flad1 A T 3: 89,316,109 (GRCm39) V151D probably damaging Het
Gja10 A T 4: 32,601,568 (GRCm39) I272N probably benign Het
Glmp T A 3: 88,233,580 (GRCm39) D178E probably benign Het
Gm16494 G A 17: 47,327,750 (GRCm39) P45S probably damaging Het
Gm4553 T C 7: 141,719,458 (GRCm39) D6G unknown Het
Grid2 G A 6: 63,233,929 (GRCm39) probably null Het
Icmt A G 4: 152,387,482 (GRCm39) M226V probably benign Het
Igkv5-39 T C 6: 69,877,607 (GRCm39) S50G probably benign Het
Ints5 T C 19: 8,872,484 (GRCm39) S148P probably damaging Het
Itga2b A C 11: 102,351,985 (GRCm39) V504G possibly damaging Het
Krt20 T A 11: 99,323,063 (GRCm39) Y253F probably damaging Het
Man2a2 T A 7: 80,018,656 (GRCm39) I68L probably damaging Het
Mpi G A 9: 57,455,954 (GRCm39) T176I probably benign Het
Msh6 C T 17: 88,294,340 (GRCm39) R1032C probably damaging Het
Myot C T 18: 44,475,416 (GRCm39) T179I probably damaging Het
Neb A G 2: 52,116,601 (GRCm39) S946P Het
Notch3 G A 17: 32,341,713 (GRCm39) A2013V probably damaging Het
Nr1d1 T C 11: 98,662,133 (GRCm39) Y167C probably damaging Het
Or52h7 T A 7: 104,213,593 (GRCm39) F55Y probably benign Het
Or52n2c T C 7: 104,574,828 (GRCm39) I48V probably benign Het
Or7g32 A G 9: 19,408,377 (GRCm39) E111G probably damaging Het
Or8k40 A C 2: 86,584,893 (GRCm39) L63R probably damaging Het
P4ha3 G A 7: 99,966,309 (GRCm39) V485M probably damaging Het
Pbk T A 14: 66,054,185 (GRCm39) C243* probably null Het
Pde4b T A 4: 102,459,983 (GRCm39) L388H possibly damaging Het
Pecam1 T C 11: 106,579,745 (GRCm39) D439G probably benign Het
Pknox2 A T 9: 36,822,459 (GRCm39) M230K probably benign Het
Plekhh2 A G 17: 84,908,113 (GRCm39) I1185V probably damaging Het
Polr3g A G 13: 81,842,682 (GRCm39) V111A unknown Het
Prkcg G C 7: 3,377,580 (GRCm39) E562D probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rps16 T A 7: 28,052,008 (GRCm39) S129T probably benign Het
Scg2 A T 1: 79,413,222 (GRCm39) N460K probably benign Het
Sct T C 7: 140,858,807 (GRCm39) S42G probably damaging Het
Spef2 A T 15: 9,727,629 (GRCm39) N151K probably benign Het
Syce1l C A 8: 114,380,721 (GRCm39) D144E possibly damaging Het
Syt17 T C 7: 118,036,069 (GRCm39) Y99C probably damaging Het
Tgfbr3 T C 5: 107,287,640 (GRCm39) N520D probably damaging Het
Thsd7b A G 1: 129,523,193 (GRCm39) S76G probably benign Het
Tmem63a G T 1: 180,788,685 (GRCm39) V341F probably benign Het
Trim5 A G 7: 103,914,993 (GRCm39) S359P probably damaging Het
Tst A T 15: 78,284,020 (GRCm39) V269E probably damaging Het
Ubr3 A T 2: 69,784,706 (GRCm39) I808F probably null Het
Ugt3a1 T A 15: 9,362,024 (GRCm39) Y267N probably benign Het
Wwc1 A T 11: 35,761,384 (GRCm39) probably benign Het
Zfp36l2 G T 17: 84,494,552 (GRCm39) N28K probably damaging Het
Zfp57 A G 17: 37,321,136 (GRCm39) D330G probably benign Het
Zgrf1 C A 3: 127,377,644 (GRCm39) S963Y probably damaging Het
Zranb2 A G 3: 157,247,412 (GRCm39) K197E unknown 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
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'- AAACCTAGTCTGGACCCAGC -3'
(R):5'- CCAGGAGCTTGTGAATATTTAAGAG -3'

Sequencing Primer
(F):5'- GCCTGCAAAGTTCCCAAAATTG -3'
(R):5'- TTAAGGTCAGCCAGGTCTGCATAC -3'
Posted On 2020-07-28