Incidental Mutation 'IGL01511:Pdzrn3'
| ID |
89239 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzrn3
|
| Ensembl Gene |
ENSMUSG00000035357 |
| Gene Name |
PDZ domain containing RING finger 3 |
| Synonyms |
LNX3, semaphorin cytoplasmic domain-associated protein 3A, Semcap3, 1110020C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.792)
|
| Stock # |
IGL01511
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
101149609-101377897 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101153256 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 533
(H533R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075994]
|
| AlphaFold |
Q69ZS0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075994
AA Change: H533R
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: H533R
| 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: ENSMUST00000124884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203474
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,244,310 (GRCm38) |
D216E |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,599,341 (GRCm38) |
L669F |
probably benign |
Het |
| Adam29 |
C |
T |
8: 55,871,421 (GRCm38) |
G666D |
probably damaging |
Het |
| Adat2 |
T |
G |
10: 13,560,238 (GRCm38) |
M109R |
probably null |
Het |
| Atf3 |
T |
A |
1: 191,171,496 (GRCm38) |
T178S |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,627,003 (GRCm38) |
Y2522* |
probably null |
Het |
| Ccr8 |
G |
A |
9: 120,094,625 (GRCm38) |
G269R |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,045,098 (GRCm38) |
P24T |
probably damaging |
Het |
| Chrna4 |
C |
T |
2: 181,028,668 (GRCm38) |
V432I |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,165,379 (GRCm38) |
V65A |
probably benign |
Het |
| Cyp2j13 |
A |
G |
4: 96,077,315 (GRCm38) |
F52L |
possibly damaging |
Het |
| Desi1 |
T |
A |
15: 82,002,588 (GRCm38) |
K45* |
probably null |
Het |
| Dmbt1 |
T |
A |
7: 131,116,728 (GRCm38) |
M1552K |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,955,314 (GRCm38) |
M197I |
possibly damaging |
Het |
| Dnah7a |
A |
C |
1: 53,419,595 (GRCm38) |
L3795V |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,135 (GRCm38) |
|
probably null |
Het |
| Fbxw18 |
A |
T |
9: 109,688,821 (GRCm38) |
S366T |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,293 (GRCm38) |
Y125C |
unknown |
Het |
| Gcsam |
T |
C |
16: 45,615,952 (GRCm38) |
Y11H |
probably damaging |
Het |
| Gucy2f |
G |
T |
X: 142,161,734 (GRCm38) |
D410E |
probably damaging |
Het |
| Hdac3 |
C |
T |
18: 37,952,595 (GRCm38) |
A53T |
probably benign |
Het |
| Lamp2 |
A |
G |
X: 38,431,875 (GRCm38) |
L244P |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 66,265,450 (GRCm38) |
F1630Y |
possibly damaging |
Het |
| M1ap |
C |
A |
6: 83,028,412 (GRCm38) |
D434E |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,707,164 (GRCm38) |
Y378H |
probably damaging |
Het |
| Mvb12a |
T |
A |
8: 71,545,302 (GRCm38) |
V120E |
probably damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,629,234 (GRCm38) |
W2063G |
probably damaging |
Het |
| Neto1 |
A |
C |
18: 86,395,908 (GRCm38) |
H9P |
possibly damaging |
Het |
| Nmu |
C |
T |
5: 76,340,821 (GRCm38) |
V126M |
probably damaging |
Het |
| Odf2 |
T |
C |
2: 29,914,309 (GRCm38) |
|
probably benign |
Het |
| Olfr1387 |
A |
G |
11: 49,460,216 (GRCm38) |
E179G |
probably damaging |
Het |
| Pikfyve |
G |
T |
1: 65,258,869 (GRCm38) |
E1586* |
probably null |
Het |
| Plcb3 |
C |
A |
19: 6,955,843 (GRCm38) |
R970L |
probably damaging |
Het |
| Plxna3 |
A |
G |
X: 74,335,308 (GRCm38) |
E686G |
probably damaging |
Het |
| Polrmt |
T |
A |
10: 79,740,151 (GRCm38) |
Y586F |
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,854,425 (GRCm38) |
F225I |
probably damaging |
Het |
| Prcc |
T |
G |
3: 87,872,241 (GRCm38) |
D162A |
probably damaging |
Het |
| Ripor1 |
T |
C |
8: 105,619,930 (GRCm38) |
|
probably benign |
Het |
| Rnaseh1 |
A |
G |
12: 28,659,009 (GRCm38) |
H263R |
probably damaging |
Het |
| Rnf19b |
T |
A |
4: 129,080,418 (GRCm38) |
S490R |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,784,726 (GRCm38) |
T23S |
probably damaging |
Het |
| Slc17a2 |
T |
C |
13: 23,819,138 (GRCm38) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,298,877 (GRCm38) |
M434V |
probably benign |
Het |
| Slc52a3 |
C |
T |
2: 152,004,644 (GRCm38) |
T175I |
probably benign |
Het |
| Slc5a2 |
C |
T |
7: 128,270,622 (GRCm38) |
T409M |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,181,918 (GRCm38) |
S108P |
probably benign |
Het |
| Thnsl2 |
T |
G |
6: 71,139,793 (GRCm38) |
Q125P |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 124,676,371 (GRCm38) |
D672G |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,753,745 (GRCm38) |
H14013N |
possibly damaging |
Het |
| Unc5a |
T |
C |
13: 55,004,816 (GRCm38) |
F792L |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 110,712,798 (GRCm38) |
V669A |
possibly damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,210,329 (GRCm38) |
M158L |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,184,214 (GRCm38) |
V104D |
probably damaging |
Het |
| Wdr78 |
T |
C |
4: 103,048,361 (GRCm38) |
D741G |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,683,401 (GRCm38) |
|
probably null |
Het |
| Zscan5b |
A |
C |
7: 6,231,422 (GRCm38) |
H149P |
probably benign |
Het |
|
| Other mutations in Pdzrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Pdzrn3
|
APN |
6 |
101,354,486 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01554:Pdzrn3
|
APN |
6 |
101,150,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02450:Pdzrn3
|
APN |
6 |
101,354,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02505:Pdzrn3
|
APN |
6 |
101,151,938 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03061:Pdzrn3
|
APN |
6 |
101,151,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03210:Pdzrn3
|
APN |
6 |
101,156,952 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
gefilte
|
UTSW |
6 |
101,154,192 (GRCm38) |
critical splice donor site |
probably null |
|
|
implevit_bonis
|
UTSW |
6 |
101,151,022 (GRCm38) |
missense |
probably benign |
0.15 |
|
predisposition
|
UTSW |
6 |
101,151,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tendency
|
UTSW |
6 |
101,151,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Pdzrn3
|
UTSW |
6 |
101,151,503 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0110:Pdzrn3
|
UTSW |
6 |
101,151,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0469:Pdzrn3
|
UTSW |
6 |
101,151,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0496:Pdzrn3
|
UTSW |
6 |
101,150,570 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0510:Pdzrn3
|
UTSW |
6 |
101,151,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0883:Pdzrn3
|
UTSW |
6 |
101,155,942 (GRCm38) |
splice site |
probably null |
|
|
R1171:Pdzrn3
|
UTSW |
6 |
101,150,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1471:Pdzrn3
|
UTSW |
6 |
101,151,512 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1496:Pdzrn3
|
UTSW |
6 |
101,150,969 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1596:Pdzrn3
|
UTSW |
6 |
101,151,005 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2033:Pdzrn3
|
UTSW |
6 |
101,150,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2068:Pdzrn3
|
UTSW |
6 |
101,150,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2084:Pdzrn3
|
UTSW |
6 |
101,154,295 (GRCm38) |
missense |
probably benign |
0.35 |
|
R2432:Pdzrn3
|
UTSW |
6 |
101,150,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3727:Pdzrn3
|
UTSW |
6 |
101,156,945 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3861:Pdzrn3
|
UTSW |
6 |
101,172,371 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4616:Pdzrn3
|
UTSW |
6 |
101,152,009 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4967:Pdzrn3
|
UTSW |
6 |
101,151,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5224:Pdzrn3
|
UTSW |
6 |
101,153,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5226:Pdzrn3
|
UTSW |
6 |
101,153,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5227:Pdzrn3
|
UTSW |
6 |
101,153,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5230:Pdzrn3
|
UTSW |
6 |
101,153,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5320:Pdzrn3
|
UTSW |
6 |
101,151,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5414:Pdzrn3
|
UTSW |
6 |
101,153,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5686:Pdzrn3
|
UTSW |
6 |
101,151,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5772:Pdzrn3
|
UTSW |
6 |
101,172,314 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6026:Pdzrn3
|
UTSW |
6 |
101,362,144 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6213:Pdzrn3
|
UTSW |
6 |
101,377,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6518:Pdzrn3
|
UTSW |
6 |
101,150,514 (GRCm38) |
makesense |
probably null |
|
|
R6657:Pdzrn3
|
UTSW |
6 |
101,151,022 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6951:Pdzrn3
|
UTSW |
6 |
101,154,192 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7055:Pdzrn3
|
UTSW |
6 |
101,151,774 (GRCm38) |
nonsense |
probably null |
|
|
R7290:Pdzrn3
|
UTSW |
6 |
101,151,245 (GRCm38) |
missense |
probably benign |
|
|
R7608:Pdzrn3
|
UTSW |
6 |
101,151,752 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7834:Pdzrn3
|
UTSW |
6 |
101,151,195 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8199:Pdzrn3
|
UTSW |
6 |
101,151,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8338:Pdzrn3
|
UTSW |
6 |
101,150,822 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8734:Pdzrn3
|
UTSW |
6 |
101,151,606 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8783:Pdzrn3
|
UTSW |
6 |
101,155,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9082:Pdzrn3
|
UTSW |
6 |
101,169,133 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9378:Pdzrn3
|
UTSW |
6 |
101,150,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9499:Pdzrn3
|
UTSW |
6 |
101,150,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9542:Pdzrn3
|
UTSW |
6 |
101,172,274 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9551:Pdzrn3
|
UTSW |
6 |
101,150,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9639:Pdzrn3
|
UTSW |
6 |
101,169,211 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9743:Pdzrn3
|
UTSW |
6 |
101,377,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Pdzrn3
|
UTSW |
6 |
101,151,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation