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 |
|
Is this an essential gene? |
Possibly non essential
(E-score: 0.332)
|
Stock # |
R4714 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108051534-108083346 bp(-) (GRCm38) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 108052439 bp (GRCm38)
|
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 |
noncoding transcript
Transcript: ENSMUST00000150700
|
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: 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 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: ENSMUST00000173683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162123
|
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: 71,164,546 |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,164,547 |
E685V |
possibly damaging |
Het |
4930486L24Rik |
A |
G |
13: 60,844,318 |
V298A |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,321,450 |
V534A |
probably benign |
Het |
Abcb4 |
A |
G |
5: 8,930,906 |
|
probably null |
Het |
Adam30 |
A |
T |
3: 98,162,854 |
S668C |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 109,829,620 |
V196D |
probably damaging |
Het |
Atp11b |
G |
A |
3: 35,834,394 |
V738I |
probably benign |
Het |
Cast |
C |
T |
13: 74,798,715 |
V27I |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,815,918 |
I3090T |
probably benign |
Het |
Cgn |
C |
A |
3: 94,779,438 |
G185W |
probably damaging |
Het |
Champ1 |
T |
C |
8: 13,878,063 |
Y74H |
probably damaging |
Het |
Cpm |
T |
C |
10: 117,675,985 |
I278T |
probably damaging |
Het |
Dcaf15 |
T |
C |
8: 84,102,216 |
T141A |
probably benign |
Het |
Dcun1d1 |
C |
T |
3: 35,895,670 |
V244M |
probably damaging |
Het |
Defb8 |
A |
G |
8: 19,447,559 |
L12P |
probably damaging |
Het |
Dlg1 |
A |
T |
16: 31,790,261 |
I225F |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,118,932 |
H2178N |
possibly damaging |
Het |
Enam |
A |
G |
5: 88,503,536 |
E893G |
probably damaging |
Het |
Flt4 |
T |
A |
11: 49,627,207 |
L358Q |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,284,785 |
Q1202R |
probably benign |
Het |
Ghr |
T |
A |
15: 3,320,397 |
D433V |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,080,422 |
D328N |
possibly damaging |
Het |
Haus4 |
T |
C |
14: 54,542,120 |
D349G |
probably benign |
Het |
Helz |
T |
C |
11: 107,626,716 |
|
probably null |
Het |
Hif3a |
A |
G |
7: 17,056,271 |
L69P |
probably damaging |
Het |
Ifit1 |
A |
G |
19: 34,648,163 |
E233G |
probably damaging |
Het |
Kcnc2 |
T |
C |
10: 112,455,828 |
F307S |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 41,110,759 |
V2151E |
possibly damaging |
Het |
Lrp5 |
T |
C |
19: 3,659,454 |
N92S |
probably damaging |
Het |
Metrnl |
C |
T |
11: 121,716,013 |
A216V |
probably damaging |
Het |
Msh2 |
A |
G |
17: 87,718,789 |
T732A |
probably damaging |
Het |
Necab2 |
T |
C |
8: 119,467,595 |
L270P |
probably damaging |
Het |
Noc3l |
T |
C |
19: 38,815,713 |
K74E |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,733,472 |
L702Q |
probably damaging |
Het |
Olfr136 |
A |
C |
17: 38,335,840 |
I228L |
possibly damaging |
Het |
Olfr3 |
A |
T |
2: 36,813,035 |
I19N |
probably benign |
Het |
Olfr728 |
A |
G |
14: 50,139,979 |
I220T |
possibly damaging |
Het |
Olfr731 |
C |
A |
14: 50,238,367 |
V173L |
possibly damaging |
Het |
Olfr812 |
A |
T |
10: 129,842,945 |
N32K |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,695,400 |
H376R |
possibly damaging |
Het |
Pnkd |
C |
T |
1: 74,351,782 |
R376C |
probably damaging |
Het |
Pnpla8 |
T |
C |
12: 44,295,913 |
F484S |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,832,573 |
H909Q |
probably benign |
Het |
Rasip1 |
CGG |
CGGG |
7: 45,632,396 |
|
probably null |
Het |
Rbm47 |
A |
T |
5: 66,025,052 |
Y413N |
probably damaging |
Het |
Ruvbl1 |
T |
A |
6: 88,484,430 |
M259K |
possibly damaging |
Het |
Sohlh2 |
A |
G |
3: 55,190,529 |
H134R |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 45,795,293 |
D447G |
possibly damaging |
Het |
Tank |
C |
T |
2: 61,650,229 |
P370S |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,894,924 |
E2049G |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,594,077 |
H426R |
possibly damaging |
Het |
Trpm6 |
C |
A |
19: 18,854,200 |
S1476R |
possibly damaging |
Het |
Trpm7 |
G |
A |
2: 126,840,783 |
Q389* |
probably null |
Het |
Ttc28 |
G |
A |
5: 111,285,229 |
R2043Q |
possibly damaging |
Het |
Tymp |
A |
G |
15: 89,376,307 |
S103P |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,967,179 |
|
probably null |
Het |
Vmn1r202 |
T |
A |
13: 22,501,807 |
N147Y |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,452,231 |
S64P |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,749,856 |
D229E |
probably benign |
Het |
Vps52 |
A |
G |
17: 33,961,179 |
I354V |
probably benign |
Het |
Zbtb8os |
T |
C |
4: 129,341,764 |
F90L |
probably damaging |
Het |
Zfp36l1 |
T |
C |
12: 80,110,496 |
D37G |
possibly damaging |
Het |
Zfp467 |
A |
G |
6: 48,427,817 |
S109P |
unknown |
Het |
Zzef1 |
T |
A |
11: 72,837,212 |
C535S |
probably damaging |
Het |
|
Other mutations in Rnf123 |
|
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 |