Incidental Mutation 'R7003:Rnf123'
ID |
544677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf123
|
Ensembl Gene |
ENSMUSG00000041528 |
Gene Name |
ring finger protein 123 |
Synonyms |
KPC1 |
MMRRC Submission |
045108-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
R7003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 107940882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000162355]
[ENSMUST00000162753]
[ENSMUST00000178267]
|
AlphaFold |
Q5XPI3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047746
|
SMART Domains |
Protein: ENSMUSP00000040803 Gene: ENSMUSG00000041528
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 benign
Transcript: ENSMUST00000159306
|
SMART Domains |
Protein: ENSMUSP00000125695 Gene: ENSMUSG00000041528
Domain | Start | End | E-Value | Type |
coiled coil region
|
172 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160249
|
SMART Domains |
Protein: ENSMUSP00000124548 Gene: ENSMUSG00000041528
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 null
Transcript: ENSMUST00000160649
|
SMART Domains |
Protein: ENSMUSP00000125495 Gene: ENSMUSG00000041528
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 |
probably null
Transcript: ENSMUST00000162355
|
SMART Domains |
Protein: ENSMUSP00000125745 Gene: ENSMUSG00000041528
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 benign
Transcript: ENSMUST00000162753
|
Predicted Effect |
probably null
Transcript: ENSMUST00000178267
|
SMART Domains |
Protein: ENSMUSP00000136953 Gene: ENSMUSG00000041528
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
A |
13: 111,392,490 (GRCm39) |
I275N |
probably damaging |
Het |
Actr3b |
A |
C |
5: 26,003,461 (GRCm39) |
Y21S |
probably damaging |
Het |
Adam6b |
C |
T |
12: 113,453,662 (GRCm39) |
Q160* |
probably null |
Het |
Adgrv1 |
C |
T |
13: 81,670,223 (GRCm39) |
|
probably null |
Het |
Akr1c6 |
A |
G |
13: 4,504,514 (GRCm39) |
N300D |
probably benign |
Het |
Alox8 |
T |
C |
11: 69,082,416 (GRCm39) |
D170G |
possibly damaging |
Het |
Amhr2 |
A |
G |
15: 102,354,768 (GRCm39) |
N40S |
probably benign |
Het |
Ap2a2 |
A |
G |
7: 141,209,109 (GRCm39) |
N767S |
probably benign |
Het |
Armc3 |
T |
C |
2: 19,274,839 (GRCm39) |
I358T |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,620,508 (GRCm39) |
S732P |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,610,837 (GRCm39) |
Y327C |
possibly damaging |
Het |
Bcr |
T |
C |
10: 74,897,393 (GRCm39) |
V179A |
probably benign |
Het |
Cep104 |
T |
C |
4: 154,078,018 (GRCm39) |
L642P |
probably benign |
Het |
Clspn |
T |
A |
4: 126,486,513 (GRCm39) |
S1302R |
possibly damaging |
Het |
Cmip |
T |
C |
8: 118,111,727 (GRCm39) |
F153L |
probably benign |
Het |
Cplane1 |
T |
G |
15: 8,258,246 (GRCm39) |
L2164R |
probably damaging |
Het |
D630039A03Rik |
T |
C |
4: 57,910,521 (GRCm39) |
D97G |
probably damaging |
Het |
Dok7 |
A |
T |
5: 35,236,899 (GRCm39) |
T396S |
probably benign |
Het |
Dsel |
C |
T |
1: 111,788,025 (GRCm39) |
V837I |
probably benign |
Het |
Etl4 |
C |
T |
2: 20,810,695 (GRCm39) |
T926I |
probably benign |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gpr155 |
A |
G |
2: 73,173,961 (GRCm39) |
I816T |
probably damaging |
Het |
Hpn |
C |
T |
7: 30,810,367 (GRCm39) |
|
probably benign |
Het |
Inpp5e |
A |
G |
2: 26,287,877 (GRCm39) |
S640P |
probably benign |
Het |
Irs3 |
C |
T |
5: 137,643,539 (GRCm39) |
V82I |
probably benign |
Het |
Kif16b |
A |
C |
2: 142,600,749 (GRCm39) |
D461E |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,390,014 (GRCm39) |
T592A |
possibly damaging |
Het |
Lgsn |
T |
A |
1: 31,243,024 (GRCm39) |
S369T |
possibly damaging |
Het |
Lrrc4b |
C |
T |
7: 44,094,580 (GRCm39) |
P83S |
probably damaging |
Het |
Mplkipl1 |
A |
G |
19: 61,164,319 (GRCm39) |
S39P |
possibly damaging |
Het |
Neil3 |
T |
C |
8: 54,054,001 (GRCm39) |
T343A |
possibly damaging |
Het |
Nt5e |
A |
G |
9: 88,246,805 (GRCm39) |
Y347C |
probably damaging |
Het |
Or1j1 |
A |
G |
2: 36,703,047 (GRCm39) |
I19T |
possibly damaging |
Het |
Or2d3b |
A |
T |
7: 106,514,319 (GRCm39) |
T305S |
probably benign |
Het |
Or2f2 |
C |
T |
6: 42,767,399 (GRCm39) |
T142I |
probably benign |
Het |
Or8g26 |
A |
T |
9: 39,096,239 (GRCm39) |
Y255F |
probably benign |
Het |
P2rx5 |
T |
C |
11: 73,058,800 (GRCm39) |
|
probably null |
Het |
Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
Plekhd1 |
T |
C |
12: 80,768,734 (GRCm39) |
C406R |
possibly damaging |
Het |
Plod3 |
T |
A |
5: 137,018,498 (GRCm39) |
N245K |
probably damaging |
Het |
Polr3c |
G |
T |
3: 96,630,954 (GRCm39) |
H155Q |
possibly damaging |
Het |
Psap |
T |
A |
10: 60,135,276 (GRCm39) |
C317S |
probably damaging |
Het |
Rif1 |
A |
G |
2: 51,967,001 (GRCm39) |
I97V |
probably benign |
Het |
Rnf19a |
G |
A |
15: 36,254,650 (GRCm39) |
R303* |
probably null |
Het |
Sdk1 |
G |
A |
5: 142,082,489 (GRCm39) |
V1036I |
probably benign |
Het |
Shc3 |
T |
A |
13: 51,620,588 (GRCm39) |
Y146F |
probably benign |
Het |
Skint6 |
A |
G |
4: 112,963,109 (GRCm39) |
Y441H |
probably benign |
Het |
Slc7a12 |
T |
C |
3: 14,570,580 (GRCm39) |
I173T |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,189,302 (GRCm39) |
S15T |
possibly damaging |
Het |
Tarm1 |
A |
T |
7: 3,545,939 (GRCm39) |
|
probably null |
Het |
Tenm3 |
T |
C |
8: 48,693,479 (GRCm39) |
Y1817C |
probably damaging |
Het |
Ttc9c |
A |
T |
19: 8,795,904 (GRCm39) |
L45Q |
probably damaging |
Het |
Ube3a |
C |
T |
7: 58,926,188 (GRCm39) |
T322I |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,439,430 (GRCm39) |
V669E |
probably damaging |
Het |
Vmn1r225 |
A |
G |
17: 20,723,416 (GRCm39) |
M286V |
probably null |
Het |
Zfp658 |
A |
G |
7: 43,224,172 (GRCm39) |
K816E |
possibly damaging |
Het |
Zfp846 |
T |
C |
9: 20,499,188 (GRCm39) |
M1T |
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 |
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 |
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'- GGGTCCTCTGTTCCACATTCAG -3'
(R):5'- ACAGGTAGAGGCTGCTTCATG -3'
Sequencing Primer
(F):5'- CATTCAGTGAGCGAACTTTGAC -3'
(R):5'- CTGTAGGCAGGGGTATGACC -3'
|
Posted On |
2019-05-13 |