Incidental Mutation 'R5717:Rnf123'
ID |
451224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf123
|
Ensembl Gene |
ENSMUSG00000041528 |
Gene Name |
ring finger protein 123 |
Synonyms |
KPC1 |
MMRRC Submission |
043337-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R5717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 107944623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 456
(T456I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000161828]
[ENSMUST00000162355]
[ENSMUST00000178267]
[ENSMUST00000162516]
[ENSMUST00000174504]
|
AlphaFold |
Q5XPI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047746
AA Change: T456I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040803 Gene: ENSMUSG00000041528 AA Change: T456I
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 |
probably damaging
Transcript: ENSMUST00000160249
AA Change: T456I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124548 Gene: ENSMUSG00000041528 AA Change: T456I
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: ENSMUST00000160649
AA Change: T456I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125495 Gene: ENSMUSG00000041528 AA Change: T456I
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: ENSMUST00000161673
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162152
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162355
AA Change: T456I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125745 Gene: ENSMUSG00000041528 AA Change: T456I
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 |
probably damaging
Transcript: ENSMUST00000178267
AA Change: T456I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136953 Gene: ENSMUSG00000041528 AA Change: T456I
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: ENSMUST00000162516
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174504
|
Meta Mutation Damage Score |
0.1965 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (48/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
A |
T |
19: 42,041,484 (GRCm39) |
H205L |
probably benign |
Het |
Acss2 |
T |
C |
2: 155,403,073 (GRCm39) |
L617S |
probably damaging |
Het |
Adgrl4 |
T |
C |
3: 151,197,971 (GRCm39) |
V77A |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,171,479 (GRCm39) |
S977P |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,619,377 (GRCm39) |
K1492E |
possibly damaging |
Het |
B4galt5 |
G |
A |
2: 167,148,549 (GRCm39) |
R190C |
probably damaging |
Het |
Bbs1 |
A |
G |
19: 4,947,354 (GRCm39) |
V355A |
possibly damaging |
Het |
Cenpj |
GTTTT |
GTTTTT |
14: 56,790,978 (GRCm39) |
|
probably null |
Het |
Ckap2 |
T |
C |
8: 22,665,063 (GRCm39) |
E467G |
probably damaging |
Het |
Cry1 |
A |
T |
10: 84,982,280 (GRCm39) |
H355Q |
probably damaging |
Het |
Cspg4 |
G |
T |
9: 56,793,082 (GRCm39) |
M272I |
probably benign |
Het |
Dicer1 |
T |
A |
12: 104,671,387 (GRCm39) |
Y961F |
probably damaging |
Het |
Epha2 |
A |
T |
4: 141,049,382 (GRCm39) |
M689L |
probably benign |
Het |
Foxc1 |
C |
T |
13: 31,991,471 (GRCm39) |
A94V |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,929,596 (GRCm39) |
V4000A |
possibly damaging |
Het |
Frmd8 |
G |
T |
19: 5,923,396 (GRCm39) |
|
probably benign |
Het |
Gm5218 |
A |
G |
15: 81,383,478 (GRCm39) |
|
noncoding transcript |
Het |
Gm7735 |
T |
C |
16: 88,966,430 (GRCm39) |
L18P |
unknown |
Het |
Hr |
C |
T |
14: 70,803,616 (GRCm39) |
T808I |
probably benign |
Het |
Hyal6 |
T |
C |
6: 24,743,690 (GRCm39) |
M462T |
probably benign |
Het |
Igkv6-20 |
T |
A |
6: 70,313,412 (GRCm39) |
|
probably benign |
Het |
Igkv8-27 |
T |
A |
6: 70,148,918 (GRCm39) |
T59S |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,659,531 (GRCm39) |
T428A |
probably benign |
Het |
Klk1b16 |
A |
G |
7: 43,788,913 (GRCm39) |
I49V |
probably benign |
Het |
Matn2 |
G |
T |
15: 34,399,237 (GRCm39) |
E375* |
probably null |
Het |
Msgn1 |
T |
C |
12: 11,258,519 (GRCm39) |
Y144C |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,099,782 (GRCm39) |
N564S |
probably benign |
Het |
Mypn |
A |
G |
10: 62,963,555 (GRCm39) |
V972A |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,740,366 (GRCm39) |
I124V |
possibly damaging |
Het |
Or5an11 |
A |
G |
19: 12,246,520 (GRCm39) |
K309E |
probably benign |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Ppp2r5d |
A |
G |
17: 46,998,820 (GRCm39) |
S81P |
probably damaging |
Het |
Ptgis |
C |
T |
2: 167,050,284 (GRCm39) |
|
probably benign |
Het |
Ptprr |
A |
G |
10: 115,884,018 (GRCm39) |
N25S |
probably benign |
Het |
Rpl6l |
T |
C |
10: 110,961,884 (GRCm39) |
|
noncoding transcript |
Het |
Rps25 |
A |
G |
9: 44,320,047 (GRCm39) |
Y23C |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,598,037 (GRCm39) |
V879A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,382,330 (GRCm39) |
A739V |
probably benign |
Het |
Senp6 |
A |
T |
9: 79,999,594 (GRCm39) |
I4F |
probably damaging |
Het |
Slc49a4 |
A |
G |
16: 35,539,799 (GRCm39) |
F341L |
probably benign |
Het |
Stoml3 |
A |
T |
3: 53,412,937 (GRCm39) |
Q197L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,578,091 (GRCm39) |
K24267N |
probably damaging |
Het |
Vmn1r43 |
T |
C |
6: 89,846,905 (GRCm39) |
S194G |
probably damaging |
Het |
Vmn2r17 |
C |
T |
5: 109,575,140 (GRCm39) |
T149I |
possibly damaging |
Het |
Wdr72 |
T |
A |
9: 74,055,487 (GRCm39) |
Y239N |
probably damaging |
Het |
Zfp423 |
A |
T |
8: 88,413,187 (GRCm39) |
|
probably null |
Het |
Zfp759 |
T |
A |
13: 67,286,772 (GRCm39) |
C114S |
probably damaging |
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 |
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 |
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'- CTCTACGCAGGGGTAGAGAATG -3'
(R):5'- ACCTTTGATGGTGGGAGAGC -3'
Sequencing Primer
(F):5'- TCCTAGGAACTGATTTACACAGGAC -3'
(R):5'- AGAGCTGTGGTGGGTATATCAATG -3'
|
Posted On |
2017-01-03 |