Incidental Mutation 'R4714:Rnf123'
| ID |
397192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf123
|
| Ensembl Gene |
ENSMUSG00000041528 |
| Gene Name |
ring finger protein 123 |
| Synonyms |
KPC1 |
| MMRRC Submission |
041956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R4714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107928869-107957183 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 107929638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047746]
[ENSMUST00000047746]
[ENSMUST00000047746]
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000160249]
[ENSMUST00000160249]
[ENSMUST00000160249]
[ENSMUST00000160249]
[ENSMUST00000160649]
[ENSMUST00000160649]
[ENSMUST00000160649]
[ENSMUST00000160649]
[ENSMUST00000162355]
[ENSMUST00000162355]
[ENSMUST00000178267]
[ENSMUST00000178267]
[ENSMUST00000178267]
[ENSMUST00000178267]
[ENSMUST00000162753]
|
| AlphaFold |
Q5XPI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035214
|
| SMART Domains |
Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
207 |
426 |
2.2e-67 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000047746
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000047746
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000047746
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000047746
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
| 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 |
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: ENSMUST00000159306
|
| SMART Domains |
Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
172 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160249
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000160649
|
| SMART Domains |
Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000162355
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000162355
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| 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 null
Transcript: ENSMUST00000178267
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
| 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 |
noncoding transcript
Transcript: ENSMUST00000161673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162753
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930486L24Rik |
A |
G |
13: 60,992,132 (GRCm39) |
V298A |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,360,609 (GRCm39) |
V534A |
probably benign |
Het |
| Abcb4 |
A |
G |
5: 8,980,906 (GRCm39) |
|
probably null |
Het |
| Adam30 |
A |
T |
3: 98,070,170 (GRCm39) |
S668C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,556,252 (GRCm39) |
V196D |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,888,543 (GRCm39) |
V738I |
probably benign |
Het |
| Cast |
C |
T |
13: 74,946,834 (GRCm39) |
V27I |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,651,780 (GRCm39) |
I3090T |
probably benign |
Het |
| Cgn |
C |
A |
3: 94,686,748 (GRCm39) |
G185W |
probably damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,063 (GRCm39) |
Y74H |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,511,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,845 (GRCm39) |
T141A |
probably benign |
Het |
| Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
| Defb8 |
A |
G |
8: 19,497,575 (GRCm39) |
L12P |
probably damaging |
Het |
| Dlg1 |
A |
T |
16: 31,609,079 (GRCm39) |
I225F |
probably damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,118,932 (GRCm39) |
H2178N |
possibly damaging |
Het |
| Enam |
A |
G |
5: 88,651,395 (GRCm39) |
E893G |
probably damaging |
Het |
| Flt4 |
T |
A |
11: 49,518,034 (GRCm39) |
L358Q |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,785 (GRCm39) |
Q1202R |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,349,879 (GRCm39) |
D433V |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,057,383 (GRCm39) |
D328N |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,779,577 (GRCm39) |
D349G |
probably benign |
Het |
| Helz |
T |
C |
11: 107,517,542 (GRCm39) |
|
probably null |
Het |
| Hif3a |
A |
G |
7: 16,790,196 (GRCm39) |
L69P |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,563 (GRCm39) |
E233G |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,733 (GRCm39) |
F307S |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,000,771 (GRCm39) |
V2151E |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,454 (GRCm39) |
N92S |
probably damaging |
Het |
| Metrnl |
C |
T |
11: 121,606,839 (GRCm39) |
A216V |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,026,217 (GRCm39) |
T732A |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,194,334 (GRCm39) |
L270P |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,804,157 (GRCm39) |
K74E |
probably benign |
Het |
| Oas2 |
A |
T |
5: 120,871,537 (GRCm39) |
L702Q |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,703,047 (GRCm39) |
I19N |
probably benign |
Het |
| Or2n1d |
A |
C |
17: 38,646,731 (GRCm39) |
I228L |
possibly damaging |
Het |
| Or4k1 |
A |
G |
14: 50,377,436 (GRCm39) |
I220T |
possibly damaging |
Het |
| Or4k6 |
C |
A |
14: 50,475,824 (GRCm39) |
V173L |
possibly damaging |
Het |
| Or6c216 |
A |
T |
10: 129,678,814 (GRCm39) |
N32K |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,525,745 (GRCm39) |
H376R |
possibly damaging |
Het |
| Pnkd |
C |
T |
1: 74,390,941 (GRCm39) |
R376C |
probably damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,342,696 (GRCm39) |
F484S |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,782,573 (GRCm39) |
H909Q |
probably benign |
Het |
| Rasip1 |
CGG |
CGGG |
7: 45,281,820 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
T |
5: 66,182,395 (GRCm39) |
Y413N |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,461,412 (GRCm39) |
M259K |
possibly damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,097,950 (GRCm39) |
H134R |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,248,330 (GRCm39) |
D447G |
possibly damaging |
Het |
| Tank |
C |
T |
2: 61,480,573 (GRCm39) |
P370S |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,544,131 (GRCm39) |
E2049G |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,226 (GRCm39) |
H426R |
possibly damaging |
Het |
| Trpm6 |
C |
A |
19: 18,831,564 (GRCm39) |
S1476R |
possibly damaging |
Het |
| Trpm7 |
G |
A |
2: 126,682,703 (GRCm39) |
Q389* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,433,095 (GRCm39) |
R2043Q |
possibly damaging |
Het |
| Tymp |
A |
G |
15: 89,260,510 (GRCm39) |
S103P |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,894,901 (GRCm39) |
|
probably null |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,977 (GRCm39) |
N147Y |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,688 (GRCm39) |
S64P |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,727,220 (GRCm39) |
D229E |
probably benign |
Het |
| Vps52 |
A |
G |
17: 34,180,153 (GRCm39) |
I354V |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,235,557 (GRCm39) |
F90L |
probably damaging |
Het |
| Zfp36l1 |
T |
C |
12: 80,157,270 (GRCm39) |
D37G |
possibly damaging |
Het |
| Zfp467 |
A |
G |
6: 48,404,751 (GRCm39) |
S109P |
unknown |
Het |
| Zzef1 |
T |
A |
11: 72,728,038 (GRCm39) |
C535S |
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 |
|
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'- TGAGCCAGCATCTGTTCCAC -3'
(R):5'- CCCACGTGGAGAAAATGTTCAC -3'
Sequencing Primer
(F):5'- AGCATCTGTTCCACCTGGG -3'
(R):5'- TGGAGAAAATGTTCACACAGGCTC -3'
|
| Posted On |
2016-06-28 |
Incidental Mutation