Incidental Mutation 'R7092:Rnf123'
| ID |
550301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf123
|
| Ensembl Gene |
ENSMUSG00000041528 |
| Gene Name |
ring finger protein 123 |
| Synonyms |
KPC1 |
| MMRRC Submission |
045186-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107945799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 329
(R329L)
|
| 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: R329L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: R329L
| 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: ENSMUST00000160249
AA Change: R329L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: R329L
| 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: R329L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: R329L
| 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 benign
Transcript: ENSMUST00000161828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162355
AA Change: R329L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: R329L
| 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: ENSMUST00000162516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178267
AA Change: R329L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: R329L
| 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 |
99% (88/89) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,889,506 (GRCm39) |
C37Y |
probably benign |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,451 (GRCm39) |
|
probably null |
Het |
| Aadacl2fm3 |
T |
C |
3: 59,768,500 (GRCm39) |
F10S |
probably benign |
Het |
| Abca4 |
C |
G |
3: 121,932,218 (GRCm39) |
P1499A |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,743,619 (GRCm39) |
N330D |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,223,901 (GRCm39) |
Y1466H |
probably damaging |
Het |
| Asz1 |
A |
C |
6: 18,071,818 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 80,011,546 (GRCm39) |
N1307K |
possibly damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,648,549 (GRCm39) |
F688L |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,953,740 (GRCm39) |
T3349I |
probably damaging |
Het |
| Ccp110 |
C |
A |
7: 118,334,494 (GRCm39) |
A989E |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,612 (GRCm39) |
S191P |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,944,800 (GRCm39) |
|
probably null |
Het |
| Cdcp1 |
T |
A |
9: 123,012,678 (GRCm39) |
T290S |
probably benign |
Het |
| Cep43 |
C |
T |
17: 8,391,802 (GRCm39) |
P161S |
probably benign |
Het |
| Clec2m |
T |
A |
6: 129,299,963 (GRCm39) |
T172S |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,430,387 (GRCm39) |
Y502H |
probably damaging |
Het |
| Cyba |
T |
G |
8: 123,154,437 (GRCm39) |
T29P |
probably damaging |
Het |
| Dcaf12 |
A |
T |
4: 41,301,366 (GRCm39) |
I190N |
probably damaging |
Het |
| Depp1 |
C |
A |
6: 116,628,749 (GRCm39) |
P31T |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,341,179 (GRCm39) |
T512A |
probably benign |
Het |
| Fancg |
G |
A |
4: 43,004,831 (GRCm39) |
P454L |
probably benign |
Het |
| Fasn |
A |
C |
11: 120,710,946 (GRCm39) |
V268G |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,697,504 (GRCm39) |
L42Q |
probably damaging |
Het |
| Fjx1 |
A |
G |
2: 102,281,101 (GRCm39) |
L278P |
possibly damaging |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Fundc2b |
T |
A |
3: 40,856,809 (GRCm39) |
D22V |
possibly damaging |
Het |
| Gm1527 |
T |
A |
3: 28,968,696 (GRCm39) |
|
probably null |
Het |
| Gng3 |
T |
A |
19: 8,815,611 (GRCm39) |
M42L |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,947 (GRCm39) |
Q408L |
probably damaging |
Het |
| Gtpbp3 |
T |
A |
8: 71,944,909 (GRCm39) |
I388K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,479,997 (GRCm39) |
W4534R |
probably damaging |
Het |
| Inhca |
G |
A |
9: 103,158,242 (GRCm39) |
S106L |
possibly damaging |
Het |
| Ist1 |
A |
T |
8: 110,409,228 (GRCm39) |
|
probably null |
Het |
| Kifbp |
C |
A |
10: 62,414,079 (GRCm39) |
K26N |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,435,556 (GRCm39) |
I276T |
probably damaging |
Het |
| Lipm |
C |
T |
19: 34,098,758 (GRCm39) |
P411S |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,591,092 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
C |
A |
12: 72,510,238 (GRCm39) |
Q446K |
possibly damaging |
Het |
| Mfsd4a |
G |
T |
1: 131,995,401 (GRCm39) |
T77N |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,386,981 (GRCm39) |
D77V |
probably damaging |
Het |
| Mrgprb4 |
A |
G |
7: 47,847,984 (GRCm39) |
S315P |
probably benign |
Het |
| Mroh2b |
C |
A |
15: 4,964,160 (GRCm39) |
N887K |
possibly damaging |
Het |
| Mto1 |
A |
G |
9: 78,377,955 (GRCm39) |
K599R |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,363,385 (GRCm39) |
|
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,110 (GRCm39) |
N295S |
probably benign |
Het |
| Nr1i3 |
G |
A |
1: 171,041,747 (GRCm39) |
|
probably null |
Het |
| Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
| Odc1 |
G |
A |
12: 17,598,314 (GRCm39) |
V152I |
possibly damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,150 (GRCm39) |
G86D |
probably benign |
Het |
| Or1l4b |
T |
A |
2: 37,036,623 (GRCm39) |
M133K |
probably damaging |
Het |
| Or5m10b |
A |
T |
2: 85,698,951 (GRCm39) |
N5I |
probably damaging |
Het |
| Or7g16 |
G |
A |
9: 18,727,353 (GRCm39) |
P79L |
probably damaging |
Het |
| Pde1b |
G |
T |
15: 103,435,458 (GRCm39) |
V438L |
probably benign |
Het |
| Pde4b |
G |
A |
4: 102,459,048 (GRCm39) |
V523M |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,111,659 (GRCm39) |
P205S |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,349,153 (GRCm39) |
S1073P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,198,965 (GRCm39) |
T1051I |
probably damaging |
Het |
| Ppme1 |
A |
T |
7: 100,021,029 (GRCm39) |
M1K |
probably null |
Het |
| Prokr2 |
A |
T |
2: 132,223,236 (GRCm39) |
V102D |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptprh |
C |
A |
7: 4,583,860 (GRCm39) |
|
probably null |
Het |
| Rbsn |
T |
C |
6: 92,166,607 (GRCm39) |
N679S |
probably damaging |
Het |
| Rce1 |
T |
C |
19: 4,673,118 (GRCm39) |
T303A |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,753,531 (GRCm39) |
N782I |
probably damaging |
Het |
| Ror2 |
A |
C |
13: 53,264,272 (GRCm39) |
V940G |
probably benign |
Het |
| Rpe65 |
C |
T |
3: 159,321,228 (GRCm39) |
R347C |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,383,316 (GRCm39) |
F317I |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,120,192 (GRCm39) |
V163A |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,474,498 (GRCm39) |
|
probably null |
Het |
| Slamf1 |
A |
G |
1: 171,604,757 (GRCm39) |
T176A |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,671,855 (GRCm39) |
A922D |
probably damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,194,401 (GRCm39) |
Q414L |
probably benign |
Het |
| Snx11 |
C |
A |
11: 96,663,665 (GRCm39) |
R58L |
probably damaging |
Het |
| Sp9 |
A |
G |
2: 73,104,115 (GRCm39) |
D223G |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,119 (GRCm39) |
I1107V |
possibly damaging |
Het |
| Stap2 |
T |
C |
17: 56,309,954 (GRCm39) |
R66G |
probably benign |
Het |
| Synrg |
T |
G |
11: 83,899,683 (GRCm39) |
F552V |
possibly damaging |
Het |
| Trim60 |
C |
T |
8: 65,453,700 (GRCm39) |
R183H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,733,760 (GRCm39) |
D4505G |
unknown |
Het |
| Ubxn4 |
A |
G |
1: 128,179,959 (GRCm39) |
I34M |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,442,128 (GRCm39) |
M702K |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,885 (GRCm39) |
I200M |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,701,338 (GRCm39) |
Y54F |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,640,780 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,117,754 (GRCm39) |
I834T |
probably damaging |
Het |
| Zfp970 |
T |
A |
2: 177,167,085 (GRCm39) |
C220S |
probably damaging |
Het |
| Zkscan5 |
T |
G |
5: 145,156,899 (GRCm39) |
I467S |
probably benign |
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 |
|
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 |
|
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'- ATGAAGTCCAACAGCCTGGC -3'
(R):5'- TGTGATGTCCCAGGCTAAGG -3'
Sequencing Primer
(F):5'- GCCTAAGCCTGGAGTCAGAAATC -3'
(R):5'- CAGGGCCATGAATAGAGCCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation