Incidental Mutation 'IGL01554:Pdzrn3'
| ID |
90650 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzrn3
|
| Ensembl Gene |
ENSMUSG00000035357 |
| Gene Name |
PDZ domain containing RING finger 3 |
| Synonyms |
1110020C07Rik, semaphorin cytoplasmic domain-associated protein 3A, LNX3, Semcap3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
IGL01554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
101126570-101354858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101127502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1055
(N1055D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075994]
|
| AlphaFold |
Q69ZS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075994
AA Change: N1055D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: N1055D
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
55 |
3.93e-3 |
SMART |
|
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
PDZ
|
257 |
339 |
3.38e-21 |
SMART |
|
PDZ
|
429 |
504 |
3.86e-16 |
SMART |
|
low complexity region
|
512 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1029 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205008
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
| Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
| Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
| Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
| Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
| Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
| Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
| Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
| Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
| Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
| Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
| Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly damaging |
Het |
|
| Other mutations in Pdzrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Pdzrn3
|
APN |
6 |
101,331,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01511:Pdzrn3
|
APN |
6 |
101,130,217 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02450:Pdzrn3
|
APN |
6 |
101,331,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Pdzrn3
|
APN |
6 |
101,128,899 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03061:Pdzrn3
|
APN |
6 |
101,128,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Pdzrn3
|
APN |
6 |
101,133,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
gefilte
|
UTSW |
6 |
101,131,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
implevit_bonis
|
UTSW |
6 |
101,127,983 (GRCm39) |
missense |
probably benign |
0.15 |
|
predisposition
|
UTSW |
6 |
101,128,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tendency
|
UTSW |
6 |
101,128,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Pdzrn3
|
UTSW |
6 |
101,128,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0110:Pdzrn3
|
UTSW |
6 |
101,128,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Pdzrn3
|
UTSW |
6 |
101,128,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Pdzrn3
|
UTSW |
6 |
101,127,531 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0510:Pdzrn3
|
UTSW |
6 |
101,128,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Pdzrn3
|
UTSW |
6 |
101,132,903 (GRCm39) |
splice site |
probably null |
|
|
R1171:Pdzrn3
|
UTSW |
6 |
101,127,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Pdzrn3
|
UTSW |
6 |
101,128,473 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1496:Pdzrn3
|
UTSW |
6 |
101,127,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1596:Pdzrn3
|
UTSW |
6 |
101,127,966 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2033:Pdzrn3
|
UTSW |
6 |
101,127,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Pdzrn3
|
UTSW |
6 |
101,127,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2084:Pdzrn3
|
UTSW |
6 |
101,131,256 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2432:Pdzrn3
|
UTSW |
6 |
101,127,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3727:Pdzrn3
|
UTSW |
6 |
101,133,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3861:Pdzrn3
|
UTSW |
6 |
101,149,332 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4616:Pdzrn3
|
UTSW |
6 |
101,128,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4967:Pdzrn3
|
UTSW |
6 |
101,128,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Pdzrn3
|
UTSW |
6 |
101,130,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Pdzrn3
|
UTSW |
6 |
101,130,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Pdzrn3
|
UTSW |
6 |
101,130,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Pdzrn3
|
UTSW |
6 |
101,130,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Pdzrn3
|
UTSW |
6 |
101,128,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Pdzrn3
|
UTSW |
6 |
101,130,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Pdzrn3
|
UTSW |
6 |
101,128,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Pdzrn3
|
UTSW |
6 |
101,149,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6026:Pdzrn3
|
UTSW |
6 |
101,339,105 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6213:Pdzrn3
|
UTSW |
6 |
101,354,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Pdzrn3
|
UTSW |
6 |
101,127,475 (GRCm39) |
makesense |
probably null |
|
|
R6657:Pdzrn3
|
UTSW |
6 |
101,127,983 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6951:Pdzrn3
|
UTSW |
6 |
101,131,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7055:Pdzrn3
|
UTSW |
6 |
101,128,735 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Pdzrn3
|
UTSW |
6 |
101,128,206 (GRCm39) |
missense |
probably benign |
|
|
R7608:Pdzrn3
|
UTSW |
6 |
101,128,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Pdzrn3
|
UTSW |
6 |
101,128,156 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8199:Pdzrn3
|
UTSW |
6 |
101,128,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Pdzrn3
|
UTSW |
6 |
101,127,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8734:Pdzrn3
|
UTSW |
6 |
101,128,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8783:Pdzrn3
|
UTSW |
6 |
101,132,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Pdzrn3
|
UTSW |
6 |
101,146,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9378:Pdzrn3
|
UTSW |
6 |
101,127,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Pdzrn3
|
UTSW |
6 |
101,127,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Pdzrn3
|
UTSW |
6 |
101,149,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9551:Pdzrn3
|
UTSW |
6 |
101,127,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9639:Pdzrn3
|
UTSW |
6 |
101,146,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9743:Pdzrn3
|
UTSW |
6 |
101,354,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pdzrn3
|
UTSW |
6 |
101,128,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation