Incidental Mutation 'IGL02543:Rnf123'
ID |
298285 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf123
|
Ensembl Gene |
ENSMUSG00000041528 |
Gene Name |
ring finger protein 123 |
Synonyms |
KPC1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
IGL02543
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107943547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 563
(S563P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000161828]
[ENSMUST00000162355]
[ENSMUST00000178267]
[ENSMUST00000174504]
|
AlphaFold |
Q5XPI3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047746
AA Change: S563P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040803 Gene: ENSMUSG00000041528 AA Change: S563P
Domain | Start | End | E-Value | Type |
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: S563P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124548 Gene: ENSMUSG00000041528 AA Change: S563P
Domain | Start | End | E-Value | Type |
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: S563P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125495 Gene: ENSMUSG00000041528 AA Change: S563P
Domain | Start | End | E-Value | Type |
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: ENSMUST00000161828
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162355
AA Change: S563P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125745 Gene: ENSMUSG00000041528 AA Change: S563P
Domain | Start | End | E-Value | Type |
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: S563P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136953 Gene: ENSMUSG00000041528 AA Change: S563P
Domain | Start | End | E-Value | Type |
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
|
Coding Region Coverage |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
T |
19: 31,895,495 (GRCm39) |
A193S |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,006,627 (GRCm39) |
T1069A |
probably benign |
Het |
Arg2 |
A |
T |
12: 79,197,533 (GRCm39) |
I184F |
probably benign |
Het |
Asb18 |
G |
A |
1: 89,942,113 (GRCm39) |
P63S |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,883,634 (GRCm39) |
H85R |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,291,413 (GRCm39) |
|
probably null |
Het |
Cog2 |
A |
G |
8: 125,256,698 (GRCm39) |
N148S |
probably benign |
Het |
Csgalnact1 |
T |
C |
8: 68,913,720 (GRCm39) |
T162A |
probably damaging |
Het |
Ddi1 |
C |
T |
9: 6,266,183 (GRCm39) |
G62D |
possibly damaging |
Het |
Dhx33 |
T |
C |
11: 70,878,066 (GRCm39) |
Y435C |
probably damaging |
Het |
Dsc3 |
A |
T |
18: 20,098,885 (GRCm39) |
C765S |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,722,529 (GRCm39) |
D362E |
probably benign |
Het |
Gm28040 |
A |
T |
1: 133,247,069 (GRCm39) |
I26F |
possibly damaging |
Het |
Gm28778 |
T |
C |
1: 53,338,202 (GRCm39) |
M22T |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,799,303 (GRCm39) |
E98G |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,680,436 (GRCm39) |
I968T |
possibly damaging |
Het |
Hlx |
T |
G |
1: 184,462,948 (GRCm39) |
S235R |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,933,867 (GRCm39) |
|
probably benign |
Het |
Kdr |
A |
G |
5: 76,125,607 (GRCm39) |
|
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,166,685 (GRCm39) |
E435G |
probably damaging |
Het |
L3mbtl4 |
T |
C |
17: 68,768,607 (GRCm39) |
|
probably benign |
Het |
Large1 |
T |
A |
8: 73,775,042 (GRCm39) |
M223L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,760,413 (GRCm39) |
K2838E |
possibly damaging |
Het |
Ncan |
T |
C |
8: 70,561,221 (GRCm39) |
D582G |
probably benign |
Het |
Nedd9 |
T |
C |
13: 41,470,211 (GRCm39) |
D314G |
probably damaging |
Het |
Nip7 |
T |
C |
8: 107,784,825 (GRCm39) |
|
probably benign |
Het |
Or10j27 |
T |
G |
1: 172,957,901 (GRCm39) |
K294N |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,389,710 (GRCm39) |
C246S |
possibly damaging |
Het |
Or7a42 |
C |
A |
10: 78,791,773 (GRCm39) |
H245N |
probably damaging |
Het |
P3h1 |
T |
C |
4: 119,095,053 (GRCm39) |
|
probably benign |
Het |
Pcp4l1 |
C |
T |
1: 171,003,133 (GRCm39) |
|
probably benign |
Het |
Plekhm2 |
C |
T |
4: 141,369,330 (GRCm39) |
G118D |
probably benign |
Het |
Prkg1 |
T |
C |
19: 30,602,134 (GRCm39) |
D374G |
possibly damaging |
Het |
Ptcd1 |
A |
G |
5: 145,091,497 (GRCm39) |
L534P |
possibly damaging |
Het |
Scart1 |
A |
G |
7: 139,800,491 (GRCm39) |
M91V |
probably benign |
Het |
Sdk2 |
A |
T |
11: 113,759,747 (GRCm39) |
I418N |
possibly damaging |
Het |
Slc26a4 |
A |
G |
12: 31,578,688 (GRCm39) |
I655T |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,993,618 (GRCm39) |
K524R |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,123,372 (GRCm39) |
A135V |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,751,991 (GRCm39) |
W942G |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 130,092,840 (GRCm39) |
V1247I |
probably benign |
Het |
Treml1 |
A |
G |
17: 48,667,459 (GRCm39) |
T115A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,540,306 (GRCm39) |
T34227A |
probably benign |
Het |
Ugt2b38 |
T |
A |
5: 87,571,342 (GRCm39) |
D230V |
probably benign |
Het |
Vmn1r203 |
G |
A |
13: 22,709,074 (GRCm39) |
G285D |
probably damaging |
Het |
Vmn2r76 |
A |
G |
7: 85,879,356 (GRCm39) |
S315P |
probably benign |
Het |
Vmn2r98 |
T |
G |
17: 19,286,083 (GRCm39) |
S194A |
probably benign |
Het |
Wdr1 |
G |
A |
5: 38,703,165 (GRCm39) |
S137F |
probably damaging |
Het |
Wnt7b |
C |
T |
15: 85,443,097 (GRCm39) |
|
probably benign |
Het |
Zfp668 |
A |
T |
7: 127,467,494 (GRCm39) |
C27* |
probably null |
Het |
|
Other mutations in Rnf123 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2015-04-16 |