Incidental Mutation 'R4767:Rnf123'
| ID |
366225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf123
|
| Ensembl Gene |
ENSMUSG00000041528 |
| Gene Name |
ring finger protein 123 |
| Synonyms |
KPC1 |
| MMRRC Submission |
042408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108051534-108083346 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108052089 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 1257
(C1257F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035214]
[ENSMUST00000047746]
[ENSMUST00000047947]
[ENSMUST00000085060]
[ENSMUST00000112295]
[ENSMUST00000160249]
[ENSMUST00000178267]
[ENSMUST00000162355]
[ENSMUST00000162753]
[ENSMUST00000160649]
|
| 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 damaging
Transcript: ENSMUST00000047746
AA Change: C1263F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: C1263F
| 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 |
noncoding transcript
Transcript: ENSMUST00000159523
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160249
AA Change: C1257F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: C1257F
| 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: ENSMUST00000178267
AA Change: C1257F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: C1257F
| 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: C1263F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: C1263F
| 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: ENSMUST00000162123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162753
|
| Predicted Effect |
probably benign
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 |
|
| Meta Mutation Damage Score |
0.9697 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
95% (62/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,138,977 (GRCm38) |
|
probably null |
Het |
| Aig1 |
T |
C |
10: 13,801,858 (GRCm38) |
N130S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 103,025,186 (GRCm38) |
Y160* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 127,060,438 (GRCm38) |
I755T |
probably benign |
Het |
| Apoc3 |
C |
A |
9: 46,234,535 (GRCm38) |
E21* |
probably null |
Het |
| Atp9b |
G |
T |
18: 80,753,070 (GRCm38) |
H919Q |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,973,306 (GRCm38) |
Y555S |
probably damaging |
Het |
| Cic |
T |
C |
7: 25,271,600 (GRCm38) |
V252A |
possibly damaging |
Het |
| Cracr2a |
A |
T |
6: 127,611,507 (GRCm38) |
N210Y |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,202,856 (GRCm38) |
R953Q |
possibly damaging |
Het |
| Csnk1d |
A |
G |
11: 120,969,128 (GRCm38) |
S318P |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,591,972 (GRCm38) |
L384P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,270,474 (GRCm38) |
T974I |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,333,441 (GRCm38) |
Y863C |
possibly damaging |
Het |
| Epg5 |
C |
A |
18: 78,023,283 (GRCm38) |
P2133T |
possibly damaging |
Het |
| Ephb6 |
A |
T |
6: 41,614,185 (GRCm38) |
Q92L |
possibly damaging |
Het |
| Ercc4 |
C |
A |
16: 13,122,095 (GRCm38) |
A73D |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,904,347 (GRCm38) |
Y290F |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 58,028,144 (GRCm38) |
V798E |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,548,885 (GRCm38) |
E149G |
probably damaging |
Het |
| Ighv1-13 |
A |
G |
12: 114,630,936 (GRCm38) |
Y86C |
unknown |
Het |
| Igkv9-120 |
G |
T |
6: 68,050,367 (GRCm38) |
R88S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,500,563 (GRCm38) |
V1584A |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,308,011 (GRCm38) |
E1119G |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,967,988 (GRCm38) |
L335P |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,260,565 (GRCm38) |
D375G |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,144,076 (GRCm38) |
I317T |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,570,466 (GRCm38) |
V128I |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,328,024 (GRCm38) |
D458N |
probably damaging |
Het |
| Olfr107 |
T |
A |
17: 37,406,200 (GRCm38) |
C217* |
probably null |
Het |
| Olfr1497 |
A |
T |
19: 13,795,045 (GRCm38) |
C189S |
probably damaging |
Het |
| Olfr347 |
A |
T |
2: 36,734,323 (GRCm38) |
M1L |
probably benign |
Het |
| Olfr76 |
G |
T |
19: 12,119,936 (GRCm38) |
H247N |
probably damaging |
Het |
| Olfr938 |
T |
C |
9: 39,078,692 (GRCm38) |
T18A |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 116,868,536 (GRCm38) |
H663R |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,695,360 (GRCm38) |
S377P |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,602,766 (GRCm38) |
D63G |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,586,258 (GRCm38) |
|
probably benign |
Het |
| Rbm5 |
C |
A |
9: 107,745,213 (GRCm38) |
W546C |
probably damaging |
Het |
| Rnf185 |
A |
G |
11: 3,432,551 (GRCm38) |
S45P |
possibly damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,904,497 (GRCm38) |
S241P |
possibly damaging |
Het |
| Slfn8 |
G |
A |
11: 83,003,197 (GRCm38) |
A872V |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,104,773 (GRCm38) |
|
probably null |
Het |
| Sox14 |
A |
T |
9: 99,875,633 (GRCm38) |
W18R |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,701,155 (GRCm38) |
E1053G |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,344,866 (GRCm38) |
K1246* |
probably null |
Het |
| Tbrg4 |
A |
C |
11: 6,620,909 (GRCm38) |
S188A |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,134,295 (GRCm38) |
D196E |
probably damaging |
Het |
| Tmem266 |
C |
T |
9: 55,380,741 (GRCm38) |
T34I |
probably damaging |
Het |
| Tmem59l |
C |
A |
8: 70,486,098 (GRCm38) |
R111L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,430,529 (GRCm38) |
|
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,643,686 (GRCm38) |
S491P |
probably damaging |
Het |
| Tspan10 |
A |
T |
11: 120,446,166 (GRCm38) |
N254I |
probably damaging |
Het |
| Ubox5 |
A |
T |
2: 130,591,894 (GRCm38) |
L511Q |
probably damaging |
Het |
| Vmn1r183 |
TATCCATC |
TATC |
7: 24,055,106 (GRCm38) |
|
probably null |
Het |
| Vmn2r4 |
C |
T |
3: 64,390,976 (GRCm38) |
C577Y |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,455,737 (GRCm38) |
M53K |
probably benign |
Het |
| Zfp948 |
T |
A |
17: 21,588,307 (GRCm38) |
I587N |
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 |
|
|
R4849:Rnf123
|
UTSW |
9 |
108,056,091 (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'- GCTTTGCAGAAGAAGCAGTCC -3'
(R):5'- ACAGATTATATCAGCGCTGAGG -3'
Sequencing Primer
(F):5'- CAGAAGAAGCAGTCCTTGTTGTTC -3'
(R):5'- TGGAACAGATGCTGGCTCAC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation