Incidental Mutation 'R8199:Pdzrn3'
| ID |
635586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn3
|
| Ensembl Gene |
ENSMUSG00000035357 |
| Gene Name |
PDZ domain containing RING finger 3 |
| Synonyms |
1110020C07Rik, semaphorin cytoplasmic domain-associated protein 3A, LNX3, Semcap3 |
| MMRRC Submission |
067622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
R8199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
101126570-101354858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101128918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 583
(S583G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075994]
|
| AlphaFold |
Q69ZS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075994
AA Change: S583G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: S583G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
| 4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
| Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
| Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
| Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
| Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
| Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
| Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
| Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
| Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
| Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
| Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
| Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
| Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
| Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
| Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
| Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
| Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
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 |
|
IGL01554:Pdzrn3
|
APN |
6 |
101,127,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGAGCTCCAGCAGTTCG -3'
(R):5'- GATCACACTGGATACCTCCTCC -3'
Sequencing Primer
(F):5'- AGTTCGCGAAAACGCTCG -3'
(R):5'- TGGATACCTCCTCCCAAACTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation