Incidental Mutation 'R7468:Rnf123'
ID 578964
Institutional Source Beutler Lab
Gene Symbol Rnf123
Ensembl Gene ENSMUSG00000041528
Gene Name ring finger protein 123
Synonyms KPC1
MMRRC Submission 045542-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R7468 (G1)
Quality Score 190.009
Status Validated
Chromosome 9
Chromosomal Location 108051534-108083346 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108069009 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 322 (H322Q)
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 benign
Transcript: ENSMUST00000047746
AA Change: H322Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: H322Q

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: ENSMUST00000160249
AA Change: H322Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: H322Q

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: H322Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: H322Q

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 benign
Transcript: ENSMUST00000161828
Predicted Effect probably benign
Transcript: ENSMUST00000162355
AA Change: H322Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: H322Q

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 benign
Transcript: ENSMUST00000178267
AA Change: H322Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: H322Q

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
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (86/88)
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
Abl2 T G 1: 156,622,534 (GRCm38) N90K possibly damaging Het
Acox1 T C 11: 116,178,175 (GRCm38) T415A possibly damaging Het
Acy1 T C 9: 106,437,722 (GRCm38) M1V probably null Het
Akap13 G A 7: 75,730,465 (GRCm38) R462H probably damaging Het
Alpk3 C A 7: 81,100,998 (GRCm38) Y1505* probably null Het
Ankrd17 T C 5: 90,243,043 (GRCm38) N2256S probably benign Het
Ankrd22 C A 19: 34,149,292 (GRCm38) C46F possibly damaging Het
Arhgef5 A T 6: 43,280,671 (GRCm38) K1291* probably null Het
Arl9 T A 5: 77,010,429 (GRCm38) Y119* probably null Het
Asb14 T C 14: 26,900,848 (GRCm38) V89A probably benign Het
Banp T G 8: 121,949,849 (GRCm38) probably null Het
BC051142 T A 17: 34,417,565 (GRCm38) probably null Het
Btn2a2 T C 13: 23,482,763 (GRCm38) N224S probably benign Het
C1ra C T 6: 124,522,444 (GRCm38) Q530* probably null Het
C2cd6 A C 1: 59,068,685 (GRCm38) S273A probably benign Het
Cd1d2 A T 3: 86,988,276 (GRCm38) probably null Het
Cdc42bpb T C 12: 111,339,873 (GRCm38) D132G probably damaging Het
Cfap45 C A 1: 172,535,310 (GRCm38) Y289* probably null Het
Chrdl2 T C 7: 100,010,125 (GRCm38) probably null Het
Cst10 C T 2: 149,405,576 (GRCm38) L71F probably benign Het
Dcaf11 T C 14: 55,565,509 (GRCm38) F292L possibly damaging Het
Dgcr8 A G 16: 18,259,623 (GRCm38) F641S probably damaging Het
Dnm3 G A 1: 162,321,629 (GRCm38) probably null Het
Eral1 T C 11: 78,075,393 (GRCm38) K320E probably damaging Het
Eva1a A G 6: 82,092,021 (GRCm38) T110A possibly damaging Het
Fbxo42 A G 4: 141,199,606 (GRCm38) D399G possibly damaging Het
Frs2 T C 10: 117,074,102 (GRCm38) T452A possibly damaging Het
Git2 T A 5: 114,733,897 (GRCm38) D542V probably damaging Het
Gm11639 G T 11: 104,749,700 (GRCm38) S1088I probably benign Het
Grk2 T A 19: 4,306,035 (GRCm38) probably benign Het
Gsg1l2 A G 11: 67,785,284 (GRCm38) N158S possibly damaging Het
Hc T C 2: 35,028,051 (GRCm38) N740S probably benign Het
Hectd1 T C 12: 51,744,805 (GRCm38) probably null Het
Hemk1 A G 9: 107,331,089 (GRCm38) probably null Het
Hormad2 G T 11: 4,412,245 (GRCm38) Y126* probably null Het
Hr A G 14: 70,558,212 (GRCm38) E399G possibly damaging Het
Ick A G 9: 78,157,939 (GRCm38) K377R probably benign Het
Ilf3 C A 9: 21,403,411 (GRCm38) H780N unknown Het
Inpp5e A T 2: 26,408,149 (GRCm38) S147T probably benign Het
Jmjd6 T C 11: 116,842,449 (GRCm38) D134G probably damaging Het
Kif23 G T 9: 61,937,175 (GRCm38) Y120* probably null Het
Klk12 T A 7: 43,773,356 (GRCm38) Y236N probably damaging Het
Kmt5b C A 19: 3,802,799 (GRCm38) Y186* probably null Het
Krtap9-5 A G 11: 99,949,306 (GRCm38) T278A unknown Het
Lca5 T A 9: 83,423,456 (GRCm38) D99V probably damaging Het
Leng9 A G 7: 4,148,801 (GRCm38) V292A probably benign Het
Lime1 A G 2: 181,383,342 (GRCm38) R231G probably benign Het
Lrmp C A 6: 145,173,701 (GRCm38) probably null Het
Mctp2 T A 7: 72,211,690 (GRCm38) E402D probably damaging Het
Mrpl28 T A 17: 26,124,615 (GRCm38) S116R probably damaging Het
Muc15 A T 2: 110,731,517 (GRCm38) R99S probably benign Het
Myh2 G A 11: 67,192,542 (GRCm38) A1444T probably benign Het
Mynn T A 3: 30,603,676 (GRCm38) Y48N probably damaging Het
Myo1b A T 1: 51,797,480 (GRCm38) V274E possibly damaging Het
Nemp1 T A 10: 127,693,054 (GRCm38) M209K possibly damaging Het
Nlrc4 G T 17: 74,445,512 (GRCm38) D625E probably benign Het
Olfr1192-ps1 T C 2: 88,652,278 (GRCm38) L42P probably damaging Het
Olfr122 C T 17: 37,772,019 (GRCm38) A122V probably damaging Het
Olfr96 T C 17: 37,225,385 (GRCm38) F87L probably benign Het
Otog T C 7: 46,264,119 (GRCm38) V792A probably benign Het
Paqr8 T C 1: 20,935,218 (GRCm38) Y199H probably damaging Het
Popdc3 A G 10: 45,315,021 (GRCm38) D76G probably damaging Het
Ppme1 T C 7: 100,341,862 (GRCm38) N210D probably benign Het
Prdm15 A C 16: 97,835,642 (GRCm38) Y158* probably null Het
Prrg2 A T 7: 45,060,263 (GRCm38) L70Q probably benign Het
Psmg4 C T 13: 34,177,983 (GRCm38) R85W probably damaging Het
Rab11fip4 A T 11: 79,689,652 (GRCm38) T437S probably benign Het
Rap2a T A 14: 120,478,926 (GRCm38) M67K probably damaging Het
Rxfp2 A T 5: 150,067,336 (GRCm38) T521S possibly damaging Het
Scrn2 T G 11: 97,033,166 (GRCm38) V292G possibly damaging Het
Serpina3n C A 12: 104,411,397 (GRCm38) P303H probably benign Het
Spop C T 11: 95,485,901 (GRCm38) T260M probably damaging Het
Surf2 G A 2: 26,919,342 (GRCm38) G224D probably benign Het
Synm T G 7: 67,733,223 (GRCm38) N669T unknown Het
Tmprss13 T C 9: 45,328,423 (GRCm38) S10P unknown Het
Trav9d-1 T A 14: 52,792,513 (GRCm38) S25T probably benign Het
Trpc3 A T 3: 36,624,416 (GRCm38) I840K probably damaging Het
Tssc4 C A 7: 143,069,262 (GRCm38) probably benign Het
Ttc39d G T 17: 80,216,150 (GRCm38) R79S possibly damaging Het
Txlnb T A 10: 17,799,334 (GRCm38) S78R probably damaging Het
Vmn1r142 T A 7: 22,163,359 (GRCm38) Q226L possibly damaging Het
Vmn1r230 T C 17: 20,846,884 (GRCm38) S112P probably damaging Het
Wrnip1 T C 13: 32,816,377 (GRCm38) F456L possibly damaging Het
Zc3h8 G T 2: 128,933,295 (GRCm38) H148Q probably benign Het
Zcchc3 A G 2: 152,414,695 (GRCm38) V28A probably benign Het
Zdbf2 T A 1: 63,307,510 (GRCm38) C1683S probably benign Het
Zfp874a T C 13: 67,425,604 (GRCm38) probably null Het
Zmym4 A G 4: 126,882,236 (GRCm38) S1260P probably benign 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
R4767:Rnf123 UTSW 9 108,052,089 (GRCm38) missense probably damaging 1.00
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
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'- GTTTCCTTAGCCTGGGACATC -3'
(R):5'- TTCCAGGCAGTGCTAAGTGTG -3'

Sequencing Primer
(F):5'- TTCCTTAGCCTGGGACATCACAAC -3'
(R):5'- TAAGTGTGGAGCTGGACCC -3'
Posted On 2019-10-07