Incidental Mutation 'R9432:Rnf123'
| ID |
713032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf123
|
| Ensembl Gene |
ENSMUSG00000041528 |
| Gene Name |
ring finger protein 123 |
| Synonyms |
KPC1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R9432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107937008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 849
(R849H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000085060]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000162355]
[ENSMUST00000162753]
[ENSMUST00000178267]
|
| AlphaFold |
Q5XPI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047746
AA Change: R849H
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: R849H
| 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: ENSMUST00000085060
|
| SMART Domains |
Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
2.55e-2 |
SMART |
|
LRR
|
65 |
83 |
6.97e1 |
SMART |
|
LRR_TYP
|
84 |
107 |
1.56e-2 |
SMART |
|
LRR
|
109 |
131 |
2.84e1 |
SMART |
|
LRR
|
132 |
155 |
7.05e-1 |
SMART |
|
LRR
|
156 |
176 |
3.98e1 |
SMART |
|
LRR
|
182 |
206 |
5.56e0 |
SMART |
|
Blast:LRRCT
|
219 |
274 |
8e-23 |
BLAST |
|
IG
|
285 |
372 |
1.59e-6 |
SMART |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
| 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 damaging
Transcript: ENSMUST00000160249
AA Change: R843H
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: R843H
| 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 damaging
Transcript: ENSMUST00000160649
AA Change: R843H
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: R843H
| 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 damaging
Transcript: ENSMUST00000162355
AA Change: R849H
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: R849H
| 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 damaging
Transcript: ENSMUST00000178267
AA Change: R843H
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: R843H
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,884,917 (GRCm39) |
R314G |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,244,559 (GRCm39) |
V2141M |
probably benign |
Het |
| Abcc10 |
G |
A |
17: 46,634,710 (GRCm39) |
A431V |
possibly damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,414 (GRCm39) |
R313G |
probably damaging |
Het |
| Adam3 |
G |
T |
8: 25,193,928 (GRCm39) |
S361R |
probably damaging |
Het |
| Ahcyl2 |
C |
T |
6: 29,768,874 (GRCm39) |
T113M |
possibly damaging |
Het |
| Ano8 |
C |
A |
8: 71,933,561 (GRCm39) |
R577L |
unknown |
Het |
| Arhgef7 |
T |
A |
8: 11,869,646 (GRCm39) |
S653R |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,469,418 (GRCm39) |
V1090I |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
| C3 |
G |
A |
17: 57,530,950 (GRCm39) |
P384S |
probably damaging |
Het |
| Camkk1 |
A |
T |
11: 72,928,757 (GRCm39) |
E432V |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,726,032 (GRCm39) |
V3087D |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,363,543 (GRCm39) |
S507P |
probably damaging |
Het |
| Coq6 |
G |
A |
12: 84,420,464 (GRCm39) |
M471I |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,171,004 (GRCm39) |
H332Q |
|
Het |
| Cxcr1 |
T |
A |
1: 74,231,231 (GRCm39) |
N264Y |
probably damaging |
Het |
| Dchs2 |
C |
A |
3: 83,036,032 (GRCm39) |
R260S |
possibly damaging |
Het |
| Elmod2 |
C |
A |
8: 84,057,761 (GRCm39) |
A41S |
possibly damaging |
Het |
| Emilin2 |
G |
A |
17: 71,581,781 (GRCm39) |
T315I |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,482,842 (GRCm39) |
N487S |
probably benign |
Het |
| Epn1 |
G |
T |
7: 5,096,369 (GRCm39) |
R221L |
probably benign |
Het |
| Faah |
A |
G |
4: 115,874,772 (GRCm39) |
V28A |
probably benign |
Het |
| Fbl |
G |
A |
7: 27,876,689 (GRCm39) |
R230H |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,805,907 (GRCm39) |
S742F |
probably damaging |
Het |
| Gm5460 |
A |
G |
14: 33,767,769 (GRCm39) |
D184G |
possibly damaging |
Het |
| Gpatch2l |
T |
C |
12: 86,307,408 (GRCm39) |
V262A |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,142,052 (GRCm39) |
L789* |
probably null |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,460,864 (GRCm39) |
T948A |
probably benign |
Het |
| Herc2 |
G |
A |
7: 55,780,932 (GRCm39) |
G1199D |
probably damaging |
Het |
| Hoxb7 |
G |
T |
11: 96,177,617 (GRCm39) |
A22S |
possibly damaging |
Het |
| Ifih1 |
T |
A |
2: 62,439,618 (GRCm39) |
I519F |
probably damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,498 (GRCm39) |
I320F |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,774,261 (GRCm39) |
T1320A |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
| Kat6b |
A |
C |
14: 21,672,077 (GRCm39) |
H329P |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,260,056 (GRCm39) |
L54P |
probably benign |
Het |
| Kntc1 |
A |
T |
5: 123,925,112 (GRCm39) |
I1142F |
possibly damaging |
Het |
| Lipo3 |
A |
G |
19: 33,533,864 (GRCm39) |
Y323H |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,441,994 (GRCm39) |
V351I |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,633,888 (GRCm39) |
S787P |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,660,058 (GRCm39) |
I1179T |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,028,631 (GRCm39) |
D269G |
probably benign |
Het |
| Mfsd13a |
T |
G |
19: 46,354,868 (GRCm39) |
I15R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,499,366 (GRCm39) |
V143I |
possibly damaging |
Het |
| Naaladl1 |
T |
C |
19: 6,156,917 (GRCm39) |
I187T |
possibly damaging |
Het |
| Nos1 |
G |
A |
5: 118,034,871 (GRCm39) |
V416M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,065 (GRCm39) |
R263C |
possibly damaging |
Het |
| Or14j8 |
A |
G |
17: 38,263,559 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8k30 |
T |
G |
2: 86,338,914 (GRCm39) |
I37S |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,460,170 (GRCm39) |
T1373A |
probably damaging |
Het |
| Pcdh18 |
T |
G |
3: 49,699,667 (GRCm39) |
M932L |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,683 (GRCm39) |
H638Q |
probably benign |
Het |
| Pcdhb19 |
A |
G |
18: 37,630,628 (GRCm39) |
E141G |
possibly damaging |
Het |
| Pds5b |
T |
G |
5: 150,693,256 (GRCm39) |
L656R |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,445,587 (GRCm39) |
L14P |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,499,128 (GRCm39) |
I173N |
|
Het |
| Sfrp5 |
T |
C |
19: 42,188,225 (GRCm39) |
D198G |
probably damaging |
Het |
| Sftpb |
G |
C |
6: 72,283,843 (GRCm39) |
A147P |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc30a6 |
A |
G |
17: 74,719,699 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,615 (GRCm39) |
V224D |
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,875,417 (GRCm39) |
Y202N |
probably benign |
Het |
| Smok2b |
A |
G |
17: 13,453,881 (GRCm39) |
I14V |
probably damaging |
Het |
| Tas2r108 |
T |
A |
6: 40,471,121 (GRCm39) |
I199K |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,322,227 (GRCm39) |
I10V |
probably damaging |
Het |
| Tfg |
G |
A |
16: 56,524,868 (GRCm39) |
R113* |
probably null |
Het |
| Tubb4a |
A |
T |
17: 57,388,034 (GRCm39) |
L331I |
probably benign |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,046 (GRCm39) |
V195A |
probably damaging |
Het |
| Umad1 |
A |
G |
6: 8,401,096 (GRCm39) |
H55R |
unknown |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,743 (GRCm39) |
Y137N |
probably damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,473 (GRCm39) |
M73K |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,233 (GRCm39) |
T69A |
|
Het |
| Vmn2r59 |
A |
T |
7: 41,696,254 (GRCm39) |
Y163N |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,830,137 (GRCm39) |
D1514E |
probably benign |
Het |
| Vsir |
A |
G |
10: 60,193,732 (GRCm39) |
D65G |
possibly damaging |
Het |
| Ypel3 |
A |
T |
7: 126,379,262 (GRCm39) |
M112L |
probably benign |
Het |
| Zfp26 |
T |
A |
9: 20,347,830 (GRCm39) |
K911N |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,670,980 (GRCm39) |
R346Q |
probably damaging |
Het |
| Zfp595 |
A |
T |
13: 67,465,407 (GRCm39) |
Y288* |
probably null |
Het |
| Zfyve28 |
G |
T |
5: 34,400,633 (GRCm39) |
Q22K |
possibly damaging |
Het |
| Zswim4 |
T |
G |
8: 84,963,539 (GRCm39) |
D32A |
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 |
|
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 |
|
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'- AGATCGTGAATGGCCCCATC -3'
(R):5'- ACCTTTCGTAATGGGTTCTCG -3'
Sequencing Primer
(F):5'- TGAATGGCCCCATCACCTG -3'
(R):5'- GGGTTCTTGCCTGCCAAAAAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation