Incidental Mutation 'R5775:Pdzrn4'
ID |
448754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzrn4
|
Ensembl Gene |
ENSMUSG00000036218 |
Gene Name |
PDZ domain containing RING finger 4 |
Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
MMRRC Submission |
043374-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R5775 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92655562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 485
(E485V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035399]
[ENSMUST00000169942]
|
AlphaFold |
E9PUZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035399
AA Change: E246V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000040456 Gene: ENSMUSG00000036218 AA Change: E246V
Domain | Start | End | E-Value | Type |
Blast:PDZ
|
1 |
56 |
4e-24 |
BLAST |
SCOP:d1qaua_
|
20 |
61 |
1e-3 |
SMART |
PDB:1UHP|A
|
21 |
64 |
9e-12 |
PDB |
PDZ
|
154 |
229 |
3.01e-18 |
SMART |
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
coiled coil region
|
394 |
430 |
N/A |
INTRINSIC |
low complexity region
|
563 |
577 |
N/A |
INTRINSIC |
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
low complexity region
|
732 |
741 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169942
AA Change: E485V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133159 Gene: ENSMUSG00000036218 AA Change: E485V
Domain | Start | End | E-Value | Type |
RING
|
22 |
56 |
1.38e-1 |
SMART |
low complexity region
|
101 |
124 |
N/A |
INTRINSIC |
PDZ
|
213 |
295 |
3.82e-20 |
SMART |
PDZ
|
393 |
468 |
3.01e-18 |
SMART |
low complexity region
|
479 |
498 |
N/A |
INTRINSIC |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
coiled coil region
|
633 |
669 |
N/A |
INTRINSIC |
low complexity region
|
802 |
816 |
N/A |
INTRINSIC |
low complexity region
|
935 |
948 |
N/A |
INTRINSIC |
low complexity region
|
971 |
980 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1919 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
A |
G |
12: 113,509,886 (GRCm39) |
D753G |
possibly damaging |
Het |
Arpc2 |
T |
A |
1: 74,295,108 (GRCm39) |
|
probably null |
Het |
Atxn2 |
C |
T |
5: 121,951,512 (GRCm39) |
T619M |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,035,860 (GRCm39) |
Y1120H |
probably damaging |
Het |
Calm5 |
T |
C |
13: 3,904,435 (GRCm39) |
L20S |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,460,520 (GRCm39) |
I20V |
probably benign |
Het |
Cd177 |
T |
C |
7: 24,451,693 (GRCm39) |
E441G |
probably damaging |
Het |
Cd63 |
T |
A |
10: 128,746,299 (GRCm39) |
C9S |
probably damaging |
Het |
Cep250 |
A |
C |
2: 155,811,294 (GRCm39) |
D380A |
possibly damaging |
Het |
Col5a3 |
G |
T |
9: 20,712,368 (GRCm39) |
P509Q |
unknown |
Het |
Cyp11b2 |
A |
G |
15: 74,725,327 (GRCm39) |
V264A |
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,340,528 (GRCm39) |
L214* |
probably null |
Het |
Dna2 |
A |
G |
10: 62,785,021 (GRCm39) |
N46S |
possibly damaging |
Het |
Elovl1 |
G |
A |
4: 118,288,094 (GRCm39) |
V77I |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,472,813 (GRCm39) |
Y207F |
probably damaging |
Het |
Epha6 |
C |
T |
16: 59,639,357 (GRCm39) |
R839Q |
possibly damaging |
Het |
Erlec1 |
A |
T |
11: 30,893,848 (GRCm39) |
S105T |
probably benign |
Het |
Esp3 |
T |
A |
17: 40,944,468 (GRCm39) |
S37T |
possibly damaging |
Het |
Foxh1 |
G |
A |
15: 76,554,049 (GRCm39) |
A8V |
probably benign |
Het |
Fut1 |
A |
C |
7: 45,268,886 (GRCm39) |
D280A |
probably damaging |
Het |
Gm13998 |
G |
T |
2: 119,708,892 (GRCm39) |
|
noncoding transcript |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
H2az1 |
T |
C |
3: 137,571,380 (GRCm39) |
Y61H |
probably damaging |
Het |
Kcns1 |
T |
C |
2: 164,006,686 (GRCm39) |
I426V |
probably damaging |
Het |
Kdm4c |
T |
G |
4: 74,277,668 (GRCm39) |
V774G |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,228,639 (GRCm39) |
V673I |
probably benign |
Het |
Mtnr1b |
G |
A |
9: 15,774,168 (GRCm39) |
A297V |
possibly damaging |
Het |
Or5d43 |
A |
T |
2: 88,105,045 (GRCm39) |
M116K |
probably damaging |
Het |
Or8b40 |
A |
T |
9: 38,027,423 (GRCm39) |
E110D |
probably damaging |
Het |
Osbpl5 |
A |
T |
7: 143,258,266 (GRCm39) |
V346D |
probably benign |
Het |
Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
Pmm1 |
A |
T |
15: 81,836,156 (GRCm39) |
I152N |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,757,297 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
G |
T |
1: 134,803,780 (GRCm39) |
L460I |
probably benign |
Het |
Prrc2a |
T |
C |
17: 35,377,463 (GRCm39) |
D565G |
unknown |
Het |
Psd |
C |
A |
19: 46,303,211 (GRCm39) |
E724* |
probably null |
Het |
Rasa2 |
C |
T |
9: 96,459,521 (GRCm39) |
|
probably null |
Het |
Rsbn1 |
A |
T |
3: 103,869,888 (GRCm39) |
Q783L |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,784,848 (GRCm39) |
Y1035C |
probably damaging |
Het |
Sec24d |
C |
T |
3: 123,084,109 (GRCm39) |
A96V |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,887,585 (GRCm39) |
|
probably null |
Het |
Sec62 |
A |
G |
3: 30,847,436 (GRCm39) |
|
probably benign |
Het |
Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
Tmem132b |
T |
A |
5: 125,715,394 (GRCm39) |
|
probably null |
Het |
Tnip3 |
A |
G |
6: 65,591,741 (GRCm39) |
S247G |
probably benign |
Het |
Traf3 |
A |
G |
12: 111,219,162 (GRCm39) |
K263R |
possibly damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,534,281 (GRCm39) |
E860G |
probably damaging |
Het |
Usp44 |
A |
G |
10: 93,681,840 (GRCm39) |
S97G |
possibly damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vps37a |
A |
G |
8: 40,982,160 (GRCm39) |
H109R |
probably damaging |
Het |
Wfikkn2 |
G |
T |
11: 94,129,114 (GRCm39) |
D342E |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,813,647 (GRCm39) |
F426Y |
probably benign |
Het |
Zfp462 |
C |
A |
4: 55,010,590 (GRCm39) |
T852N |
probably damaging |
Het |
Zfp987 |
T |
G |
4: 146,061,505 (GRCm39) |
S312R |
probably benign |
Het |
|
Other mutations in Pdzrn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01932:Pdzrn4
|
APN |
15 |
92,644,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01991:Pdzrn4
|
APN |
15 |
92,299,807 (GRCm39) |
splice site |
probably null |
|
IGL02103:Pdzrn4
|
APN |
15 |
92,667,768 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02243:Pdzrn4
|
APN |
15 |
92,668,577 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02269:Pdzrn4
|
APN |
15 |
92,667,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03005:Pdzrn4
|
APN |
15 |
92,668,272 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4362001:Pdzrn4
|
UTSW |
15 |
92,667,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0243:Pdzrn4
|
UTSW |
15 |
92,668,200 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0367:Pdzrn4
|
UTSW |
15 |
92,655,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0972:Pdzrn4
|
UTSW |
15 |
92,655,592 (GRCm39) |
missense |
probably benign |
0.00 |
R1168:Pdzrn4
|
UTSW |
15 |
92,668,152 (GRCm39) |
missense |
probably benign |
0.16 |
R1411:Pdzrn4
|
UTSW |
15 |
92,668,894 (GRCm39) |
makesense |
probably null |
|
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1489:Pdzrn4
|
UTSW |
15 |
92,575,593 (GRCm39) |
missense |
probably benign |
|
R1503:Pdzrn4
|
UTSW |
15 |
92,297,685 (GRCm39) |
missense |
probably damaging |
0.99 |
R1561:Pdzrn4
|
UTSW |
15 |
92,575,518 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1584:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
R1733:Pdzrn4
|
UTSW |
15 |
92,299,855 (GRCm39) |
missense |
probably benign |
0.06 |
R1965:Pdzrn4
|
UTSW |
15 |
92,644,190 (GRCm39) |
splice site |
probably null |
|
R2061:Pdzrn4
|
UTSW |
15 |
92,668,041 (GRCm39) |
missense |
probably damaging |
0.99 |
R3010:Pdzrn4
|
UTSW |
15 |
92,667,692 (GRCm39) |
missense |
probably benign |
0.32 |
R4016:Pdzrn4
|
UTSW |
15 |
92,297,630 (GRCm39) |
missense |
probably benign |
|
R4032:Pdzrn4
|
UTSW |
15 |
92,667,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R4110:Pdzrn4
|
UTSW |
15 |
92,668,745 (GRCm39) |
missense |
probably benign |
0.26 |
R4180:Pdzrn4
|
UTSW |
15 |
92,299,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4539:Pdzrn4
|
UTSW |
15 |
92,668,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Pdzrn4
|
UTSW |
15 |
92,667,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Pdzrn4
|
UTSW |
15 |
92,668,133 (GRCm39) |
nonsense |
probably null |
|
R4900:Pdzrn4
|
UTSW |
15 |
92,668,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R5422:Pdzrn4
|
UTSW |
15 |
92,575,502 (GRCm39) |
missense |
probably benign |
0.01 |
R5444:Pdzrn4
|
UTSW |
15 |
92,668,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R5772:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Pdzrn4
|
UTSW |
15 |
92,295,255 (GRCm39) |
missense |
probably benign |
0.01 |
R6192:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6391:Pdzrn4
|
UTSW |
15 |
92,578,418 (GRCm39) |
missense |
probably damaging |
0.99 |
R6613:Pdzrn4
|
UTSW |
15 |
92,575,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R7046:Pdzrn4
|
UTSW |
15 |
92,668,303 (GRCm39) |
nonsense |
probably null |
|
R7096:Pdzrn4
|
UTSW |
15 |
92,295,384 (GRCm39) |
missense |
probably benign |
0.00 |
R7451:Pdzrn4
|
UTSW |
15 |
92,667,948 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8075:Pdzrn4
|
UTSW |
15 |
92,575,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R8125:Pdzrn4
|
UTSW |
15 |
92,641,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Pdzrn4
|
UTSW |
15 |
92,668,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Pdzrn4
|
UTSW |
15 |
92,295,216 (GRCm39) |
missense |
probably benign |
|
R9555:Pdzrn4
|
UTSW |
15 |
92,297,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R9558:Pdzrn4
|
UTSW |
15 |
92,299,877 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9622:Pdzrn4
|
UTSW |
15 |
92,294,949 (GRCm39) |
missense |
probably benign |
|
R9763:Pdzrn4
|
UTSW |
15 |
92,668,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Pdzrn4
|
UTSW |
15 |
92,578,353 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0018:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0020:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0021:Pdzrn4
|
UTSW |
15 |
92,575,590 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0027:Pdzrn4
|
UTSW |
15 |
92,578,393 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0027:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
X0065:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Pdzrn4
|
UTSW |
15 |
92,294,838 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCTAAAGCTGTTTCAGGAGAGG -3'
(R):5'- AAGATCGTTTGCCCCGAAAG -3'
Sequencing Primer
(F):5'- CTTCTTTCTGAGAGGTGACCAGAG -3'
(R):5'- CGTTTGCCCCGAAAGATTATG -3'
|
Posted On |
2016-12-15 |