Incidental Mutation 'R1817:Rnf123'
ID 204518
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 039845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R1817 (G1)
Quality Score 163
Status Validated
Chromosome 9
Chromosomal Location 107928869-107957183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107940125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 756 (V756A)
Ref Sequence ENSEMBL: ENSMUSP00000125745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047746] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000178267] [ENSMUST00000162355] [ENSMUST00000162753]
AlphaFold Q5XPI3
Predicted Effect probably benign
Transcript: ENSMUST00000047746
AA Change: V756A

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: V756A

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: ENSMUST00000159306
SMART Domains Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
coiled coil region 172 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160249
AA Change: V750A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: V750A

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: V750A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: V750A

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: ENSMUST00000160841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161673
Predicted Effect probably benign
Transcript: ENSMUST00000178267
AA Change: V750A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: V750A

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: ENSMUST00000162355
AA Change: V756A

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: V756A

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: ENSMUST00000173683
Predicted Effect probably benign
Transcript: ENSMUST00000162753
Meta Mutation Damage Score 0.1383 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
Validation Efficiency 95% (90/95)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,110,144 (GRCm39) S600T probably benign Het
Acly T A 11: 100,386,717 (GRCm39) Q615L probably benign Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afg3l1 G T 8: 124,228,670 (GRCm39) K745N probably damaging Het
Armc8 T C 9: 99,418,312 (GRCm39) T39A possibly damaging Het
Atm C A 9: 53,403,533 (GRCm39) probably benign Het
Babam2 A G 5: 32,214,890 (GRCm39) T324A probably damaging Het
Btd C A 14: 31,384,246 (GRCm39) D77E possibly damaging Het
Cadm1 T A 9: 47,740,668 (GRCm39) probably benign Het
Card11 A T 5: 140,871,315 (GRCm39) D729E probably benign Het
Ccni G T 5: 93,335,967 (GRCm39) T144K possibly damaging Het
Ceacam23 C T 7: 17,607,255 (GRCm39) noncoding transcript Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cgas A G 9: 78,341,593 (GRCm39) probably null Het
Cpsf7 T C 19: 10,512,803 (GRCm39) F296L possibly damaging Het
Cyfip1 C A 7: 55,523,196 (GRCm39) N70K possibly damaging Het
Cyp4a12b A G 4: 115,271,259 (GRCm39) probably benign Het
Ddx20 A T 3: 105,585,896 (GRCm39) Y816* probably null Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dgat1 T A 15: 76,386,703 (GRCm39) M445L probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dnmt1 T C 9: 20,838,422 (GRCm39) T215A probably benign Het
Dsg4 C T 18: 20,604,302 (GRCm39) T923M probably damaging Het
Enox1 A G 14: 77,852,915 (GRCm39) I394V possibly damaging Het
Esrp2 A T 8: 106,861,250 (GRCm39) M183K probably damaging Het
Fam171a1 C T 2: 3,179,410 (GRCm39) P79S probably benign Het
Fga A G 3: 82,939,082 (GRCm39) T486A probably benign Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Fnip1 A G 11: 54,393,279 (GRCm39) T572A probably benign Het
Fxn A C 19: 24,257,765 (GRCm39) probably null Het
Gaa C T 11: 119,175,324 (GRCm39) Q901* probably null Het
Gabrg1 A G 5: 70,911,594 (GRCm39) M344T probably benign Het
Galnt7 C T 8: 57,991,212 (GRCm39) V433M probably damaging Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Hydin A C 8: 111,259,459 (GRCm39) D2477A probably benign Het
Igsf6 T C 7: 120,670,031 (GRCm39) Y37C probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kif3a T C 11: 53,489,561 (GRCm39) Y138H probably damaging Het
Klra17 A G 6: 129,845,681 (GRCm39) probably null Het
Lcorl A T 5: 45,952,688 (GRCm39) I55N probably damaging Het
Lrrc49 A G 9: 60,510,059 (GRCm39) S398P possibly damaging Het
Ltv1 A G 10: 13,055,018 (GRCm39) L384S probably damaging Het
Mageb3 A T 2: 121,784,918 (GRCm39) Y261* probably null Het
Mical3 T G 6: 121,019,196 (GRCm39) T9P probably benign Het
Myrip C T 9: 120,217,228 (GRCm39) S49L probably damaging Het
Nrap T C 19: 56,372,487 (GRCm39) probably benign Het
Or2m12 T C 16: 19,104,627 (GRCm39) N289D probably damaging Het
Or4k5 A G 14: 50,385,728 (GRCm39) V201A probably benign Het
Otoa A T 7: 120,759,753 (GRCm39) probably benign Het
Pals2 T G 6: 50,140,411 (GRCm39) F144V probably benign Het
Parp11 T A 6: 127,467,008 (GRCm39) I133N probably damaging Het
Pcnx1 A G 12: 81,965,416 (GRCm39) T528A probably benign Het
Pde4c A G 8: 71,179,638 (GRCm39) H63R probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Pdzd7 A T 19: 45,024,615 (GRCm39) M468K probably damaging Het
Perm1 C A 4: 156,303,061 (GRCm39) P535Q possibly damaging Het
Pgap1 C A 1: 54,575,128 (GRCm39) A265S probably benign Het
Pik3c2a A T 7: 115,975,747 (GRCm39) probably null Het
Plxnd1 T C 6: 115,957,562 (GRCm39) T491A possibly damaging Het
Pms1 A T 1: 53,246,128 (GRCm39) D470E probably benign Het
Prf1 C A 10: 61,138,762 (GRCm39) T240N probably damaging Het
Prune2 A G 19: 17,099,445 (GRCm39) T1650A probably benign Het
Ptprf A G 4: 118,080,462 (GRCm39) L1264P probably benign Het
Ptprs A G 17: 56,726,527 (GRCm39) S948P probably damaging Het
Rapgef1 T C 2: 29,576,268 (GRCm39) V117A probably damaging Het
Sez6l2 A G 7: 126,566,291 (GRCm39) E741G probably damaging Het
Shc3 A T 13: 51,626,888 (GRCm39) I125K possibly damaging Het
Smr3a A T 5: 88,155,917 (GRCm39) probably benign Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
St6gal1 A T 16: 23,140,083 (GRCm39) K85* probably null Het
Taf1b T G 12: 24,597,121 (GRCm39) D353E possibly damaging Het
Tcp10b C T 17: 13,286,590 (GRCm39) P180S possibly damaging Het
Tlr9 A T 9: 106,102,142 (GRCm39) M478L probably benign Het
Tpr A T 1: 150,295,654 (GRCm39) E892D probably damaging Het
Trio C T 15: 27,742,581 (GRCm39) W22* probably null Het
Usp14 A G 18: 10,024,673 (GRCm39) V8A probably damaging Het
Vmn2r19 A T 6: 123,307,011 (GRCm39) K506N possibly damaging Het
Vmn2r45 T A 7: 8,475,372 (GRCm39) N552I probably damaging Het
Vmn2r56 A T 7: 12,449,542 (GRCm39) M232K probably benign Het
Vps13b T A 15: 35,910,788 (GRCm39) F3517L possibly damaging Het
Yif1a C T 19: 5,142,333 (GRCm39) R247* probably null Het
Zbtb5 A G 4: 44,993,767 (GRCm39) V539A probably benign Het
Zfp180 G A 7: 23,804,652 (GRCm39) R357Q probably damaging Het
Zfp536 A G 7: 37,268,042 (GRCm39) L458P probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp970 C T 2: 177,167,976 (GRCm39) H517Y probably damaging Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null 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
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'- TGGGCCTCTTCCTACAAATAC -3'
(R):5'- CCCAGGAGCTTGTGAATATTTAAG -3'

Sequencing Primer
(F):5'- TACAAATACAATATAGGTCAGGGCC -3'
(R):5'- TTAAGGTCAGCCAGGTCTGCATAC -3'
Posted On 2014-06-23