Incidental Mutation 'R4849:Rnf123'
| ID |
373406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf123
|
| Ensembl Gene |
ENSMUSG00000041528 |
| Gene Name |
ring finger protein 123 |
| Synonyms |
KPC1 |
| MMRRC Submission |
042461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4849 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108051534-108083346 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108056091 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1149
(L1149Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000178267]
[ENSMUST00000162355]
[ENSMUST00000162753]
|
| AlphaFold |
Q5XPI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047746
AA Change: L1155Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: L1155Q
| 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: ENSMUST00000047947
|
| SMART Domains |
Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
234 |
8e-48 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
202 |
6.6e-12 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
1.8e-9 |
PFAM |
|
| 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: ENSMUST00000112295
|
| SMART Domains |
Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
2 |
235 |
2.1e-51 |
PFAM |
|
Pfam:NTP_transf_3
|
3 |
199 |
1.1e-11 |
PFAM |
|
Pfam:Hexapep
|
259 |
294 |
9.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145330
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160249
AA Change: L1149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: L1149Q
| 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: L1149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: L1149Q
| 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: ENSMUST00000162123
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178267
AA Change: L1149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: L1149Q
| 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: ENSMUST00000162355
AA Change: L1155Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: L1155Q
| 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: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162753
|
| Meta Mutation Damage Score |
0.6386 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
T |
7: 28,615,452 (GRCm38) |
R239S |
possibly damaging |
Het |
| Angptl1 |
C |
A |
1: 156,857,165 (GRCm38) |
N301K |
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,532,296 (GRCm38) |
T603S |
probably benign |
Het |
| App |
T |
C |
16: 85,056,434 (GRCm38) |
D252G |
unknown |
Het |
| Atxn3 |
A |
G |
12: 101,934,368 (GRCm38) |
S219P |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,647,388 (GRCm38) |
S3397P |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,142,873 (GRCm38) |
I414V |
possibly damaging |
Het |
| Cemip |
A |
G |
7: 83,935,737 (GRCm38) |
F1324L |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,615,271 (GRCm38) |
N1724K |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,302,835 (GRCm38) |
M1035L |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,873,315 (GRCm38) |
I711T |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,201,601 (GRCm38) |
W98R |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,294,533 (GRCm38) |
S580P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,811,772 (GRCm38) |
|
probably null |
Het |
| Dusp15 |
T |
A |
2: 152,949,082 (GRCm38) |
T32S |
probably damaging |
Het |
| Eogt |
T |
A |
6: 97,116,055 (GRCm38) |
N387I |
probably damaging |
Het |
| Evx2 |
T |
C |
2: 74,659,331 (GRCm38) |
D29G |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,012,970 (GRCm38) |
N1422S |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,310,637 (GRCm38) |
D537G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,377,948 (GRCm38) |
I93S |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,797,294 (GRCm38) |
E228G |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,620,506 (GRCm38) |
T25A |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,459,948 (GRCm38) |
W695R |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,272,987 (GRCm38) |
V222I |
possibly damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,032,973 (GRCm38) |
|
probably null |
Het |
| Gipc1 |
A |
G |
8: 83,662,127 (GRCm38) |
Y154C |
probably benign |
Het |
| Gm5356 |
G |
T |
8: 89,187,042 (GRCm38) |
|
noncoding transcript |
Het |
| Gnl1 |
T |
A |
17: 35,987,711 (GRCm38) |
|
probably null |
Het |
| Gpcpd1 |
C |
T |
2: 132,534,099 (GRCm38) |
G605R |
probably damaging |
Het |
| Guca1a |
T |
C |
17: 47,394,737 (GRCm38) |
T177A |
possibly damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,594,676 (GRCm38) |
E127G |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,591,219 (GRCm38) |
I350N |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,275,267 (GRCm38) |
|
probably null |
Het |
| Ing4 |
A |
G |
6: 125,043,983 (GRCm38) |
R23G |
probably damaging |
Het |
| Ins1 |
A |
G |
19: 52,264,946 (GRCm38) |
N108S |
probably damaging |
Het |
| Iqce |
A |
T |
5: 140,693,459 (GRCm38) |
M72K |
possibly damaging |
Het |
| Itga3 |
C |
A |
11: 95,076,271 (GRCm38) |
M22I |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,961,993 (GRCm38) |
E201G |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,781,695 (GRCm38) |
N344S |
probably damaging |
Het |
| Klrb1f |
A |
T |
6: 129,056,384 (GRCm38) |
I192F |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,630,279 (GRCm38) |
|
probably null |
Het |
| Kntc1 |
A |
C |
5: 123,759,065 (GRCm38) |
I164L |
probably benign |
Het |
| Ltf |
T |
A |
9: 111,025,990 (GRCm38) |
I357K |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,130,690 (GRCm38) |
T304A |
probably benign |
Het |
| Msh6 |
C |
T |
17: 87,983,519 (GRCm38) |
R178C |
possibly damaging |
Het |
| Mtch1 |
T |
C |
17: 29,347,591 (GRCm38) |
D66G |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 40,608,997 (GRCm38) |
V15A |
probably benign |
Het |
| Mtss2 |
A |
T |
8: 110,726,243 (GRCm38) |
H40L |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,840,874 (GRCm38) |
|
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,244,909 (GRCm38) |
L535P |
probably damaging |
Het |
| Neurl2 |
T |
A |
2: 164,832,819 (GRCm38) |
|
probably null |
Het |
| Nfia |
A |
C |
4: 98,081,811 (GRCm38) |
T503P |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,306,332 (GRCm38) |
E487G |
possibly damaging |
Het |
| Nuak1 |
A |
T |
10: 84,375,279 (GRCm38) |
V315D |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,230,570 (GRCm38) |
N1519S |
possibly damaging |
Het |
| Olfr364-ps1 |
T |
C |
2: 37,146,254 (GRCm38) |
L14P |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,369,400 (GRCm38) |
I161K |
probably damaging |
Het |
| Or1o1 |
T |
C |
17: 37,405,698 (GRCm38) |
V50A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 103,098,319 (GRCm38) |
I193V |
possibly damaging |
Het |
| Or6b13 |
G |
T |
7: 140,202,427 (GRCm38) |
C114* |
probably null |
Het |
| Or9s18 |
G |
A |
13: 65,152,679 (GRCm38) |
V152M |
possibly damaging |
Het |
| Peli1 |
T |
A |
11: 21,148,528 (GRCm38) |
|
probably benign |
Het |
| Ppp6r1 |
A |
G |
7: 4,643,207 (GRCm38) |
L175P |
probably damaging |
Het |
| Prkcd |
A |
G |
14: 30,599,743 (GRCm38) |
L498P |
probably damaging |
Het |
| Prss30 |
T |
A |
17: 23,972,795 (GRCm38) |
I251F |
probably benign |
Het |
| Psme3 |
A |
T |
11: 101,317,081 (GRCm38) |
N21Y |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,532,161 (GRCm38) |
Y271H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,698,803 (GRCm38) |
N1303Y |
probably damaging |
Het |
| Rims4 |
T |
C |
2: 163,865,543 (GRCm38) |
I121V |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,908,462 (GRCm38) |
L593F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,585,599 (GRCm38) |
F582S |
probably damaging |
Het |
| Sgpl1 |
T |
C |
10: 61,104,518 (GRCm38) |
K335R |
probably benign |
Het |
| Sirpa |
C |
T |
2: 129,609,243 (GRCm38) |
T141I |
probably damaging |
Het |
| Slit1 |
G |
T |
19: 41,649,544 (GRCm38) |
A270E |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,792,560 (GRCm38) |
T533A |
possibly damaging |
Het |
| Sphkap |
T |
G |
1: 83,277,384 (GRCm38) |
E881D |
probably benign |
Het |
| Sptan1 |
C |
A |
2: 30,011,042 (GRCm38) |
R1407S |
probably damaging |
Het |
| Tfdp1 |
A |
G |
8: 13,373,895 (GRCm38) |
T353A |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,122,534 (GRCm38) |
I62V |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,196,048 (GRCm38) |
V326D |
possibly damaging |
Het |
| Zfp398 |
T |
C |
6: 47,859,512 (GRCm38) |
I82T |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,918,834 (GRCm38) |
Y176H |
possibly damaging |
Het |
|
| Other mutations in Rnf123 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Rnf123
|
APN |
9 |
108,067,395 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01358:Rnf123
|
APN |
9 |
108,069,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01464:Rnf123
|
APN |
9 |
108,052,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01637:Rnf123
|
APN |
9 |
108,058,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01669:Rnf123
|
APN |
9 |
108,058,356 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01905:Rnf123
|
APN |
9 |
108,071,370 (GRCm38) |
splice site |
probably benign |
|
|
IGL02070:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02072:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02073:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02074:Rnf123
|
APN |
9 |
108,066,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02079:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02080:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02231:Rnf123
|
APN |
9 |
108,066,399 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02281:Rnf123
|
APN |
9 |
108,071,452 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02336:Rnf123
|
APN |
9 |
108,061,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02543:Rnf123
|
APN |
9 |
108,066,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02565:Rnf123
|
APN |
9 |
108,052,212 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02571:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02572:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02574:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02586:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02589:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02600:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02601:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02602:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02603:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02609:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02628:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02629:Rnf123
|
APN |
9 |
108,070,789 (GRCm38) |
splice site |
probably benign |
|
|
IGL02629:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02630:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02631:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02632:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02650:Rnf123
|
APN |
9 |
108,069,748 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL02690:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02691:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02692:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02693:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02713:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02736:Rnf123
|
APN |
9 |
108,068,302 (GRCm38) |
nonsense |
probably null |
|
|
IGL02929:Rnf123
|
APN |
9 |
108,069,076 (GRCm38) |
missense |
probably benign |
|
|
R1175:Rnf123
|
UTSW |
9 |
108,077,373 (GRCm38) |
missense |
probably benign |
|
|
R1465:Rnf123
|
UTSW |
9 |
108,071,466 (GRCm38) |
splice site |
probably benign |
|
|
R1502:Rnf123
|
UTSW |
9 |
108,068,510 (GRCm38) |
splice site |
probably null |
|
|
R1682:Rnf123
|
UTSW |
9 |
108,077,398 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1817:Rnf123
|
UTSW |
9 |
108,062,926 (GRCm38) |
missense |
probably benign |
0.41 |
|
R1855:Rnf123
|
UTSW |
9 |
108,061,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2394:Rnf123
|
UTSW |
9 |
108,063,536 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2483:Rnf123
|
UTSW |
9 |
108,063,521 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3896:Rnf123
|
UTSW |
9 |
108,069,103 (GRCm38) |
splice site |
probably benign |
|
|
R3940:Rnf123
|
UTSW |
9 |
108,064,035 (GRCm38) |
splice site |
probably benign |
|
|
R4206:Rnf123
|
UTSW |
9 |
108,063,963 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4641:Rnf123
|
UTSW |
9 |
108,058,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4714:Rnf123
|
UTSW |
9 |
108,052,439 (GRCm38) |
splice site |
probably null |
|
|
R4767:Rnf123
|
UTSW |
9 |
108,052,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4899:Rnf123
|
UTSW |
9 |
108,063,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5274:Rnf123
|
UTSW |
9 |
108,064,003 (GRCm38) |
frame shift |
probably null |
|
|
R5275:Rnf123
|
UTSW |
9 |
108,064,003 (GRCm38) |
frame shift |
probably null |
|
|
R5276:Rnf123
|
UTSW |
9 |
108,064,003 (GRCm38) |
frame shift |
probably null |
|
|
R5294:Rnf123
|
UTSW |
9 |
108,064,003 (GRCm38) |
frame shift |
probably null |
|
|
R5295:Rnf123
|
UTSW |
9 |
108,064,003 (GRCm38) |
frame shift |
probably null |
|
|
R5394:Rnf123
|
UTSW |
9 |
108,070,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5717:Rnf123
|
UTSW |
9 |
108,067,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6186:Rnf123
|
UTSW |
9 |
108,069,958 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6449:Rnf123
|
UTSW |
9 |
108,056,053 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6502:Rnf123
|
UTSW |
9 |
108,068,332 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6944:Rnf123
|
UTSW |
9 |
108,063,623 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7003:Rnf123
|
UTSW |
9 |
108,063,683 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7088:Rnf123
|
UTSW |
9 |
108,058,536 (GRCm38) |
missense |
probably null |
1.00 |
|
R7092:Rnf123
|
UTSW |
9 |
108,068,600 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7100:Rnf123
|
UTSW |
9 |
108,056,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7257:Rnf123
|
UTSW |
9 |
108,069,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7453:Rnf123
|
UTSW |
9 |
108,070,408 (GRCm38) |
splice site |
probably null |
|
|
R7468:Rnf123
|
UTSW |
9 |
108,069,009 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7517:Rnf123
|
UTSW |
9 |
108,070,274 (GRCm38) |
nonsense |
probably null |
|
|
R7577:Rnf123
|
UTSW |
9 |
108,070,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8296:Rnf123
|
UTSW |
9 |
108,062,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8322:Rnf123
|
UTSW |
9 |
108,068,507 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8754:Rnf123
|
UTSW |
9 |
108,071,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8783:Rnf123
|
UTSW |
9 |
108,069,073 (GRCm38) |
missense |
probably benign |
|
|
R9052:Rnf123
|
UTSW |
9 |
108,059,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9156:Rnf123
|
UTSW |
9 |
108,063,028 (GRCm38) |
splice site |
probably benign |
|
|
R9170:Rnf123
|
UTSW |
9 |
108,071,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9332:Rnf123
|
UTSW |
9 |
108,067,505 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9385:Rnf123
|
UTSW |
9 |
108,052,268 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9394:Rnf123
|
UTSW |
9 |
108,065,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9432:Rnf123
|
UTSW |
9 |
108,059,809 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9717:Rnf123
|
UTSW |
9 |
108,077,764 (GRCm38) |
missense |
probably benign |
0.43 |
|
Z1176:Rnf123
|
UTSW |
9 |
108,062,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Rnf123
|
UTSW |
9 |
108,058,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCAAACTAGACTCTGAAGTTC -3'
(R):5'- CTTAGCTTCTCTGCCAGGAG -3'
Sequencing Primer
(F):5'- CTGAAGTTCATTCTGAGACAAGG -3'
(R):5'- ACGCTAGAGTCCCCATTCAGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation