Incidental Mutation 'R2483:Rnf123'
ID |
250676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf123
|
Ensembl Gene |
ENSMUSG00000041528 |
Gene Name |
ring finger protein 123 |
Synonyms |
KPC1 |
MMRRC Submission |
040407-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R2483 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107940720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 707
(V707A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000178267]
[ENSMUST00000162355]
[ENSMUST00000162753]
|
AlphaFold |
Q5XPI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047746
AA Change: V713A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000040803 Gene: ENSMUSG00000041528 AA Change: V713A
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 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 benign
Transcript: ENSMUST00000160249
AA Change: V707A
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124548 Gene: ENSMUSG00000041528 AA Change: V707A
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: V707A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000125495 Gene: ENSMUSG00000041528 AA Change: V707A
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: ENSMUST00000178267
AA Change: V707A
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000136953 Gene: ENSMUSG00000041528 AA Change: V707A
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: ENSMUST00000162355
AA Change: V713A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125745 Gene: ENSMUSG00000041528 AA Change: V713A
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: ENSMUST00000173683
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162753
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
Adpgk |
G |
A |
9: 59,221,036 (GRCm39) |
V281I |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
Ankrd13d |
T |
C |
19: 4,331,968 (GRCm39) |
E110G |
probably damaging |
Het |
Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
Ano6 |
A |
T |
15: 95,863,855 (GRCm39) |
T792S |
probably benign |
Het |
Atm |
A |
T |
9: 53,421,566 (GRCm39) |
V715D |
probably damaging |
Het |
Avl9 |
A |
G |
6: 56,713,828 (GRCm39) |
D362G |
probably benign |
Het |
Bin1 |
T |
A |
18: 32,547,280 (GRCm39) |
S152R |
probably damaging |
Het |
Bscl2 |
T |
A |
19: 8,818,514 (GRCm39) |
C40S |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
Btrc |
A |
G |
19: 45,504,497 (GRCm39) |
D397G |
probably damaging |
Het |
Cables2 |
A |
T |
2: 179,902,222 (GRCm39) |
V379E |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,389,221 (GRCm39) |
L228P |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,574,639 (GRCm39) |
D541V |
probably damaging |
Het |
Cdh26 |
A |
T |
2: 178,108,382 (GRCm39) |
S327C |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,938,344 (GRCm39) |
K535E |
probably damaging |
Het |
Ces1a |
A |
G |
8: 93,753,969 (GRCm39) |
Y345H |
probably damaging |
Het |
Col6a5 |
C |
A |
9: 105,741,347 (GRCm39) |
R2524I |
probably damaging |
Het |
Cracd |
A |
T |
5: 77,004,256 (GRCm39) |
I206F |
probably damaging |
Het |
Dctn1 |
G |
A |
6: 83,171,169 (GRCm39) |
R661H |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,508,800 (GRCm39) |
T372A |
probably benign |
Het |
Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
Emx1 |
T |
C |
6: 85,165,237 (GRCm39) |
S105P |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,867,102 (GRCm39) |
Y1014C |
unknown |
Het |
Fam193a |
A |
T |
5: 34,623,102 (GRCm39) |
K1230M |
possibly damaging |
Het |
Fgf9 |
A |
G |
14: 58,347,028 (GRCm39) |
Q207R |
probably benign |
Het |
Gm5460 |
G |
A |
14: 33,767,775 (GRCm39) |
C461Y |
possibly damaging |
Het |
Gpc1 |
T |
C |
1: 92,783,660 (GRCm39) |
I249T |
probably benign |
Het |
Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,897,275 (GRCm39) |
E1097G |
probably benign |
Het |
Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
Kcnh5 |
A |
T |
12: 75,161,245 (GRCm39) |
I221N |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
Kyat1 |
T |
C |
2: 30,076,710 (GRCm39) |
H218R |
possibly damaging |
Het |
Lamb2 |
T |
G |
9: 108,357,758 (GRCm39) |
C94G |
probably damaging |
Het |
Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,102,052 (GRCm39) |
M811L |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,210,838 (GRCm39) |
E1693G |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,755,565 (GRCm39) |
T979A |
probably benign |
Het |
Myo18b |
A |
T |
5: 113,006,274 (GRCm39) |
C879S |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,384,807 (GRCm39) |
T733A |
probably damaging |
Het |
Ndufa9 |
A |
T |
6: 126,821,362 (GRCm39) |
M76K |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,215,542 (GRCm39) |
C74R |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,970,972 (GRCm39) |
F2514L |
probably damaging |
Het |
Or4a69 |
G |
A |
2: 89,313,471 (GRCm39) |
Q3* |
probably null |
Het |
Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
P2ry2 |
A |
T |
7: 100,647,706 (GRCm39) |
S200T |
probably benign |
Het |
Pcdha5 |
G |
T |
18: 37,094,542 (GRCm39) |
M350I |
probably benign |
Het |
Pcdha5 |
G |
A |
18: 37,094,834 (GRCm39) |
V448M |
probably damaging |
Het |
Pex12 |
C |
T |
11: 83,188,455 (GRCm39) |
R180H |
possibly damaging |
Het |
Pip4p1 |
C |
G |
14: 51,167,749 (GRCm39) |
V59L |
probably damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,912,701 (GRCm39) |
V168E |
probably damaging |
Het |
Prokr2 |
T |
A |
2: 132,223,095 (GRCm39) |
D149V |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,406,117 (GRCm39) |
F134L |
probably damaging |
Het |
Sfxn5 |
A |
G |
6: 85,309,260 (GRCm39) |
|
probably null |
Het |
Shfl |
A |
T |
9: 20,784,473 (GRCm39) |
I186F |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,330,986 (GRCm39) |
E1472G |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,445,556 (GRCm39) |
V433D |
probably damaging |
Het |
Snapc1 |
A |
G |
12: 74,011,417 (GRCm39) |
T28A |
probably benign |
Het |
Soat1 |
T |
C |
1: 156,258,669 (GRCm39) |
Y528C |
probably damaging |
Het |
Spem1 |
G |
A |
11: 69,712,344 (GRCm39) |
R107C |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,141,319 (GRCm39) |
S1639P |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,016,388 (GRCm39) |
N691K |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,142,311 (GRCm39) |
I6183F |
probably damaging |
Het |
Tas2r110 |
A |
T |
6: 132,845,433 (GRCm39) |
M155L |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,693,305 (GRCm39) |
T1859I |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,030,809 (GRCm39) |
V1048D |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,248,482 (GRCm39) |
L43P |
probably damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,883,189 (GRCm39) |
|
probably null |
Het |
Vps37c |
T |
A |
19: 10,683,569 (GRCm39) |
|
probably null |
Het |
Wwp2 |
A |
G |
8: 108,275,167 (GRCm39) |
D388G |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,355,336 (GRCm39) |
T3366S |
probably benign |
Het |
Zbtb49 |
A |
C |
5: 38,360,701 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGACTGTGCTTCCTGTGC -3'
(R):5'- GAGTTCTACATAGGCCCTAGTCTTGG -3'
Sequencing Primer
(F):5'- GCTTCCTGTGCCCTTGGG -3'
(R):5'- CTAGTCTTGGAAGCCAGACTAGC -3'
|
Posted On |
2014-12-04 |