Incidental Mutation 'R1682:Rnf123'
ID |
189255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf123
|
Ensembl Gene |
ENSMUSG00000041528 |
Gene Name |
ring finger protein 123 |
Synonyms |
KPC1 |
MMRRC Submission |
039718-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
R1682 (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 C
at 107954597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 40
(Y40D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035211]
[ENSMUST00000047746]
[ENSMUST00000159372]
[ENSMUST00000160249]
[ENSMUST00000162516]
[ENSMUST00000174504]
[ENSMUST00000178267]
[ENSMUST00000161828]
[ENSMUST00000160649]
[ENSMUST00000162355]
[ENSMUST00000162886]
|
AlphaFold |
Q5XPI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035211
|
SMART Domains |
Protein: ENSMUSP00000035211 Gene: ENSMUSG00000032591
Domain | Start | End | E-Value | Type |
PAN_AP
|
21 |
104 |
2.65e-9 |
SMART |
KR
|
108 |
188 |
3.13e-39 |
SMART |
KR
|
189 |
270 |
8.57e-46 |
SMART |
KR
|
290 |
372 |
7.94e-41 |
SMART |
KR
|
377 |
459 |
6.59e-47 |
SMART |
Tryp_SPc
|
488 |
709 |
2.27e-55 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047746
AA Change: Y40D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000040803 Gene: ENSMUSG00000041528 AA Change: Y40D
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: ENSMUST00000159372
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160249
AA Change: Y40D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000124548 Gene: ENSMUSG00000041528 AA Change: Y40D
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
AA Change: Y40D
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174504
AA Change: Y40D
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178267
AA Change: Y40D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000136953 Gene: ENSMUSG00000041528 AA Change: Y40D
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: ENSMUST00000161828
AA Change: Y40D
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160649
AA Change: Y40D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000125495 Gene: ENSMUSG00000041528 AA Change: Y40D
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: ENSMUST00000162355
AA Change: Y40D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000125745 Gene: ENSMUSG00000041528 AA Change: Y40D
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: ENSMUST00000184227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162152
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162886
|
SMART Domains |
Protein: ENSMUSP00000125175 Gene: ENSMUSG00000032591
Domain | Start | End | E-Value | Type |
PAN_AP
|
21 |
104 |
2.65e-9 |
SMART |
KR
|
108 |
188 |
3.13e-39 |
SMART |
KR
|
189 |
270 |
1.07e-46 |
SMART |
KR
|
281 |
363 |
7.94e-41 |
SMART |
KR
|
368 |
450 |
6.59e-47 |
SMART |
Tryp_SPc
|
479 |
700 |
2.27e-55 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,283,043 (GRCm39) |
D2203G |
probably benign |
Het |
Acin1 |
A |
G |
14: 54,901,175 (GRCm39) |
S629P |
probably damaging |
Het |
Agbl2 |
T |
A |
2: 90,614,434 (GRCm39) |
I22N |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,599,343 (GRCm39) |
E796G |
probably damaging |
Het |
Ankrd13d |
A |
G |
19: 4,332,961 (GRCm39) |
L13P |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,557,143 (GRCm39) |
S364P |
possibly damaging |
Het |
Ap2a1 |
T |
C |
7: 44,565,362 (GRCm39) |
T126A |
probably benign |
Het |
Apob |
A |
G |
12: 8,062,365 (GRCm39) |
I3616V |
probably benign |
Het |
Arl5a |
A |
T |
2: 52,306,214 (GRCm39) |
N39K |
probably benign |
Het |
Baiap2 |
G |
A |
11: 119,888,366 (GRCm39) |
R334H |
probably damaging |
Het |
Bbox1 |
T |
A |
2: 110,122,893 (GRCm39) |
N132I |
possibly damaging |
Het |
Bcl11b |
A |
G |
12: 107,882,908 (GRCm39) |
L469P |
probably damaging |
Het |
Brca1 |
A |
G |
11: 101,416,391 (GRCm39) |
I581T |
probably damaging |
Het |
Cacng2 |
T |
C |
15: 78,002,997 (GRCm39) |
Y32C |
probably damaging |
Het |
Capn9 |
G |
T |
8: 125,338,304 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,400,671 (GRCm39) |
T290A |
probably benign |
Het |
Cdk5rap2 |
C |
T |
4: 70,220,387 (GRCm39) |
V593I |
possibly damaging |
Het |
Cep128 |
G |
C |
12: 91,197,596 (GRCm39) |
D91E |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,245,217 (GRCm39) |
M1080V |
probably benign |
Het |
Coq8b |
T |
A |
7: 26,939,549 (GRCm39) |
M193K |
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,970,162 (GRCm39) |
Y131C |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,066,539 (GRCm39) |
S779P |
probably damaging |
Het |
Dgat1 |
C |
T |
15: 76,387,219 (GRCm39) |
C356Y |
probably benign |
Het |
Dipk1c |
A |
T |
18: 84,754,988 (GRCm39) |
I155F |
possibly damaging |
Het |
Dnah12 |
A |
T |
14: 26,500,840 (GRCm39) |
T1543S |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,851,040 (GRCm39) |
S821G |
probably damaging |
Het |
Dock4 |
G |
A |
12: 40,775,779 (GRCm39) |
C574Y |
probably damaging |
Het |
Dr1 |
T |
C |
5: 108,417,604 (GRCm39) |
I50T |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,778,780 (GRCm39) |
|
probably null |
Het |
Eln |
C |
A |
5: 134,732,636 (GRCm39) |
*861L |
probably null |
Het |
Eml6 |
T |
A |
11: 29,709,065 (GRCm39) |
H24L |
probably benign |
Het |
Eps8l3 |
A |
C |
3: 107,798,622 (GRCm39) |
T503P |
possibly damaging |
Het |
Fgf1 |
C |
A |
18: 38,974,985 (GRCm39) |
D155Y |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,242,431 (GRCm39) |
M507K |
probably damaging |
Het |
Flnb |
A |
T |
14: 7,913,121 (GRCm38) |
R1463S |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,793,732 (GRCm39) |
T1018I |
probably benign |
Het |
Gm10803 |
T |
A |
2: 93,394,533 (GRCm39) |
C102S |
probably damaging |
Het |
Gpatch1 |
C |
A |
7: 35,002,812 (GRCm39) |
V233L |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,842,325 (GRCm39) |
|
probably null |
Het |
Gsk3a |
T |
C |
7: 24,935,133 (GRCm39) |
T106A |
possibly damaging |
Het |
Hap1 |
A |
G |
11: 100,240,302 (GRCm39) |
V136A |
possibly damaging |
Het |
Helq |
A |
T |
5: 100,940,679 (GRCm39) |
S307T |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,738,148 (GRCm39) |
S264T |
possibly damaging |
Het |
Htr4 |
A |
G |
18: 62,561,137 (GRCm39) |
M133V |
possibly damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Jakmip2 |
A |
G |
18: 43,714,896 (GRCm39) |
|
probably null |
Het |
Ldhd |
T |
A |
8: 112,354,745 (GRCm39) |
S358C |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,801,782 (GRCm39) |
D700G |
probably benign |
Het |
Magel2 |
T |
G |
7: 62,029,983 (GRCm39) |
S962R |
unknown |
Het |
Map2 |
A |
C |
1: 66,454,781 (GRCm39) |
|
probably null |
Het |
Map3k1 |
T |
A |
13: 111,893,684 (GRCm39) |
E704V |
probably damaging |
Het |
Mrpl39 |
A |
T |
16: 84,527,347 (GRCm39) |
V180D |
probably damaging |
Het |
Myef2 |
T |
C |
2: 124,939,978 (GRCm39) |
M383V |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,979,891 (GRCm39) |
Y610C |
probably damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,778 (GRCm39) |
L89P |
probably damaging |
Het |
Or51h1 |
T |
C |
7: 102,308,904 (GRCm39) |
V292A |
probably damaging |
Het |
Or8g54 |
T |
A |
9: 39,706,954 (GRCm39) |
Y94* |
probably null |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pabpc1 |
T |
A |
15: 36,605,785 (GRCm39) |
N135I |
possibly damaging |
Het |
Pcsk6 |
T |
A |
7: 65,559,976 (GRCm39) |
H100Q |
probably damaging |
Het |
Pdss1 |
A |
G |
2: 22,805,531 (GRCm39) |
K270E |
probably damaging |
Het |
Pigx |
A |
T |
16: 31,906,268 (GRCm39) |
S18T |
possibly damaging |
Het |
Plbd2 |
T |
A |
5: 120,623,849 (GRCm39) |
T558S |
probably damaging |
Het |
Plppr1 |
A |
T |
4: 49,325,617 (GRCm39) |
|
probably null |
Het |
Plppr2 |
T |
A |
9: 21,855,717 (GRCm39) |
V230E |
possibly damaging |
Het |
Pola2 |
A |
G |
19: 6,003,091 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
G |
9: 101,089,505 (GRCm39) |
S273P |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,494,853 (GRCm39) |
E741G |
probably benign |
Het |
Prom2 |
C |
A |
2: 127,382,082 (GRCm39) |
V111L |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,056,912 (GRCm39) |
D557G |
possibly damaging |
Het |
Rgs10 |
T |
C |
7: 127,975,694 (GRCm39) |
T158A |
probably benign |
Het |
Rnf14 |
A |
G |
18: 38,441,242 (GRCm39) |
T211A |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,266,417 (GRCm39) |
S668T |
probably damaging |
Het |
Sema6d |
T |
A |
2: 124,507,069 (GRCm39) |
L946Q |
probably benign |
Het |
Sgcd |
T |
G |
11: 47,085,869 (GRCm39) |
K94Q |
probably benign |
Het |
Skor2 |
A |
T |
18: 76,947,211 (GRCm39) |
D311V |
unknown |
Het |
Slc34a1 |
A |
T |
13: 23,996,623 (GRCm39) |
I43F |
probably damaging |
Het |
Spdye4c |
C |
A |
2: 128,434,542 (GRCm39) |
P40T |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,135,717 (GRCm39) |
Q216K |
possibly damaging |
Het |
Tmem62 |
C |
T |
2: 120,837,538 (GRCm39) |
T485I |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,681,056 (GRCm39) |
V432L |
probably damaging |
Het |
Trio |
T |
C |
15: 27,744,232 (GRCm39) |
|
probably null |
Het |
Uggt2 |
A |
T |
14: 119,292,055 (GRCm39) |
D581E |
probably benign |
Het |
Unc5d |
T |
A |
8: 29,249,109 (GRCm39) |
S319C |
probably damaging |
Het |
Vmn1r211 |
T |
C |
13: 23,035,813 (GRCm39) |
I285V |
probably damaging |
Het |
Vmn2r68 |
A |
G |
7: 84,882,574 (GRCm39) |
Y393H |
possibly damaging |
Het |
Vmn2r99 |
A |
C |
17: 19,598,207 (GRCm39) |
N77T |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCCTGGAAAAGAGCTACTGCTG -3'
(R):5'- TGCTGACACCCATAGAAAAGTGCG -3'
Sequencing Primer
(F):5'- AAAGAGCTACTGCTGTCTGG -3'
(R):5'- CGCTCAGTGTGGTTGCTC -3'
|
Posted On |
2014-05-14 |