Incidental Mutation 'R9682:Pdzph1'
ID |
728655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzph1
|
Ensembl Gene |
ENSMUSG00000024227 |
Gene Name |
PDZ and pleckstrin homology domains 1 |
Synonyms |
2610034M16Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R9682 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 59257262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 925
(K925N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025064
AA Change: K925N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: K925N
Domain | Start | End | E-Value | Type |
Blast:PDZ
|
780 |
844 |
6e-20 |
BLAST |
PDZ
|
915 |
984 |
3.31e-15 |
SMART |
PH
|
993 |
1096 |
9.4e-19 |
SMART |
PH
|
1120 |
1218 |
2.83e-13 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,752,507 (GRCm39) |
M493L |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,896,328 (GRCm39) |
I334F |
probably damaging |
Het |
Acad9 |
C |
T |
3: 36,136,268 (GRCm39) |
A351V |
possibly damaging |
Het |
Adgrg6 |
A |
T |
10: 14,316,128 (GRCm39) |
N536K |
possibly damaging |
Het |
Alk |
A |
T |
17: 72,182,058 (GRCm39) |
L1322M |
possibly damaging |
Het |
Atp2b1 |
T |
C |
10: 98,815,662 (GRCm39) |
V102A |
possibly damaging |
Het |
Atp8b3 |
T |
C |
10: 80,371,230 (GRCm39) |
N48S |
probably damaging |
Het |
B3gnt4 |
A |
T |
5: 123,649,516 (GRCm39) |
I294L |
probably benign |
Het |
Bnip3 |
A |
G |
7: 138,496,445 (GRCm39) |
S88P |
probably damaging |
Het |
Ccr2 |
A |
G |
9: 123,906,176 (GRCm39) |
Y152C |
probably damaging |
Het |
Cd28 |
T |
C |
1: 60,804,505 (GRCm39) |
L161P |
probably damaging |
Het |
Clcn4 |
C |
T |
7: 7,299,797 (GRCm39) |
V11M |
probably benign |
Het |
Clec4g |
T |
A |
8: 3,757,713 (GRCm39) |
S79C |
unknown |
Het |
Cux1 |
A |
T |
5: 136,337,116 (GRCm39) |
S799T |
probably benign |
Het |
Cyp2t4 |
A |
T |
7: 26,857,611 (GRCm39) |
H408L |
probably damaging |
Het |
Cyp3a41a |
A |
T |
5: 145,652,326 (GRCm39) |
W58R |
possibly damaging |
Het |
Dicer1 |
A |
G |
12: 104,672,484 (GRCm39) |
V921A |
probably damaging |
Het |
Dpysl3 |
A |
G |
18: 43,491,313 (GRCm39) |
L268P |
probably damaging |
Het |
Dus3l |
G |
A |
17: 57,076,770 (GRCm39) |
V626I |
probably benign |
Het |
Epb41 |
C |
A |
4: 131,655,820 (GRCm39) |
D337Y |
|
Het |
Fer1l6 |
A |
G |
15: 58,422,113 (GRCm39) |
T104A |
probably benign |
Het |
Fgd4 |
T |
C |
16: 16,302,202 (GRCm39) |
T118A |
probably benign |
Het |
Gabra4 |
T |
A |
5: 71,798,415 (GRCm39) |
Y188F |
possibly damaging |
Het |
Gm28168 |
A |
T |
1: 117,875,824 (GRCm39) |
H151L |
probably damaging |
Het |
Gm7995 |
A |
G |
14: 42,133,395 (GRCm39) |
I91V |
|
Het |
Heg1 |
A |
G |
16: 33,541,298 (GRCm39) |
E485G |
probably benign |
Het |
Hirip3 |
A |
G |
7: 126,462,021 (GRCm39) |
D73G |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,091,332 (GRCm39) |
D684G |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,815,712 (GRCm39) |
E502G |
probably damaging |
Het |
Lrrc31 |
C |
T |
3: 30,743,423 (GRCm39) |
V181I |
probably damaging |
Het |
Lrrc7 |
G |
T |
3: 157,882,954 (GRCm39) |
S446R |
possibly damaging |
Het |
Lyst |
A |
G |
13: 13,831,526 (GRCm39) |
E1650G |
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,975,419 (GRCm39) |
Y718C |
possibly damaging |
Het |
Mta1 |
T |
C |
12: 113,095,384 (GRCm39) |
|
probably null |
Het |
Muc16 |
C |
T |
9: 18,553,874 (GRCm39) |
G4140R |
unknown |
Het |
Nfe2l1 |
A |
C |
11: 96,710,944 (GRCm39) |
I428M |
probably benign |
Het |
Nup210l |
T |
A |
3: 90,051,469 (GRCm39) |
Y538N |
possibly damaging |
Het |
Nxpe4 |
G |
A |
9: 48,304,248 (GRCm39) |
V112M |
probably benign |
Het |
Or1e16 |
C |
T |
11: 73,286,025 (GRCm39) |
M274I |
probably benign |
Het |
Or4c112 |
T |
A |
2: 88,854,296 (GRCm39) |
Q17L |
possibly damaging |
Het |
Or4k40 |
T |
A |
2: 111,250,737 (GRCm39) |
K186N |
probably benign |
Het |
Or52d3 |
G |
T |
7: 104,229,434 (GRCm39) |
A194S |
probably damaging |
Het |
Or8g24 |
G |
A |
9: 38,989,874 (GRCm39) |
H56Y |
possibly damaging |
Het |
Palm |
A |
G |
10: 79,655,039 (GRCm39) |
T266A |
possibly damaging |
Het |
Pfkfb3 |
G |
T |
2: 11,491,058 (GRCm39) |
Q179K |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,901,214 (GRCm39) |
Q421R |
possibly damaging |
Het |
Pip5k1b |
A |
T |
19: 24,356,318 (GRCm39) |
S207T |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
Plcxd1 |
A |
T |
5: 110,251,477 (GRCm39) |
N351I |
probably damaging |
Het |
Prr14l |
G |
A |
5: 32,988,023 (GRCm39) |
P491S |
probably benign |
Het |
Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
Saxo2 |
T |
G |
7: 82,292,881 (GRCm39) |
K72T |
probably benign |
Het |
Sema3b |
T |
A |
9: 107,481,013 (GRCm39) |
D108V |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,295,748 (GRCm39) |
D150G |
probably damaging |
Het |
Slc6a12 |
G |
A |
6: 121,340,704 (GRCm39) |
M544I |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,646,981 (GRCm39) |
|
probably null |
Het |
Stat3 |
A |
G |
11: 100,785,593 (GRCm39) |
F512L |
probably benign |
Het |
Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
Tjp3 |
C |
T |
10: 81,109,645 (GRCm39) |
E853K |
probably benign |
Het |
Tmem30c |
A |
T |
16: 57,111,180 (GRCm39) |
S31T |
probably benign |
Het |
Tpte |
A |
T |
8: 22,841,493 (GRCm39) |
D495V |
probably damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,522 (GRCm39) |
M215K |
probably damaging |
Het |
Vinac1 |
T |
C |
2: 128,875,529 (GRCm39) |
S1246G |
unknown |
Het |
Vsig2 |
T |
C |
9: 37,451,771 (GRCm39) |
L135S |
probably benign |
Het |
|
Other mutations in Pdzph1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Pdzph1
|
APN |
17 |
59,281,791 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL00644:Pdzph1
|
APN |
17 |
59,195,105 (GRCm39) |
missense |
probably benign |
|
IGL01413:Pdzph1
|
APN |
17 |
59,186,147 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01530:Pdzph1
|
APN |
17 |
59,229,710 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02089:Pdzph1
|
APN |
17 |
59,274,334 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02201:Pdzph1
|
APN |
17 |
59,274,506 (GRCm39) |
splice site |
probably benign |
|
IGL02548:Pdzph1
|
APN |
17 |
59,280,386 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02618:Pdzph1
|
APN |
17 |
59,186,068 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02660:Pdzph1
|
APN |
17 |
59,187,642 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02749:Pdzph1
|
APN |
17 |
59,239,478 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02876:Pdzph1
|
APN |
17 |
59,281,064 (GRCm39) |
missense |
probably benign |
|
IGL03304:Pdzph1
|
APN |
17 |
59,187,641 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03336:Pdzph1
|
APN |
17 |
59,281,229 (GRCm39) |
missense |
probably benign |
0.00 |
R0008:Pdzph1
|
UTSW |
17 |
59,229,756 (GRCm39) |
splice site |
probably benign |
|
R0008:Pdzph1
|
UTSW |
17 |
59,229,756 (GRCm39) |
splice site |
probably benign |
|
R0498:Pdzph1
|
UTSW |
17 |
59,280,825 (GRCm39) |
missense |
probably benign |
0.00 |
R0553:Pdzph1
|
UTSW |
17 |
59,229,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Pdzph1
|
UTSW |
17 |
59,261,474 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1306:Pdzph1
|
UTSW |
17 |
59,239,427 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1370:Pdzph1
|
UTSW |
17 |
59,281,082 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1382:Pdzph1
|
UTSW |
17 |
59,281,742 (GRCm39) |
missense |
probably benign |
0.10 |
R1463:Pdzph1
|
UTSW |
17 |
59,239,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Pdzph1
|
UTSW |
17 |
59,280,747 (GRCm39) |
missense |
probably benign |
0.16 |
R1773:Pdzph1
|
UTSW |
17 |
59,281,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R1862:Pdzph1
|
UTSW |
17 |
59,229,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Pdzph1
|
UTSW |
17 |
59,281,092 (GRCm39) |
missense |
probably benign |
0.04 |
R2071:Pdzph1
|
UTSW |
17 |
59,281,092 (GRCm39) |
missense |
probably benign |
0.04 |
R2229:Pdzph1
|
UTSW |
17 |
59,239,407 (GRCm39) |
splice site |
probably benign |
|
R2264:Pdzph1
|
UTSW |
17 |
59,195,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2334:Pdzph1
|
UTSW |
17 |
59,229,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R3750:Pdzph1
|
UTSW |
17 |
59,280,331 (GRCm39) |
nonsense |
probably null |
|
R4700:Pdzph1
|
UTSW |
17 |
59,281,541 (GRCm39) |
missense |
probably damaging |
0.98 |
R4847:Pdzph1
|
UTSW |
17 |
59,280,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4868:Pdzph1
|
UTSW |
17 |
59,281,751 (GRCm39) |
missense |
probably benign |
0.00 |
R5130:Pdzph1
|
UTSW |
17 |
59,229,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5329:Pdzph1
|
UTSW |
17 |
59,281,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R5574:Pdzph1
|
UTSW |
17 |
59,280,942 (GRCm39) |
missense |
probably benign |
0.00 |
R5770:Pdzph1
|
UTSW |
17 |
59,186,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R5795:Pdzph1
|
UTSW |
17 |
59,192,862 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5842:Pdzph1
|
UTSW |
17 |
59,281,407 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5851:Pdzph1
|
UTSW |
17 |
59,280,741 (GRCm39) |
missense |
probably benign |
0.02 |
R6158:Pdzph1
|
UTSW |
17 |
59,280,622 (GRCm39) |
missense |
probably damaging |
0.96 |
R6813:Pdzph1
|
UTSW |
17 |
59,281,431 (GRCm39) |
missense |
probably benign |
0.08 |
R7022:Pdzph1
|
UTSW |
17 |
59,281,121 (GRCm39) |
missense |
probably benign |
0.02 |
R7395:Pdzph1
|
UTSW |
17 |
59,186,154 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7525:Pdzph1
|
UTSW |
17 |
59,274,336 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7944:Pdzph1
|
UTSW |
17 |
59,239,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R7945:Pdzph1
|
UTSW |
17 |
59,239,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R7992:Pdzph1
|
UTSW |
17 |
59,186,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8016:Pdzph1
|
UTSW |
17 |
59,239,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R8116:Pdzph1
|
UTSW |
17 |
59,282,138 (GRCm39) |
missense |
probably benign |
0.01 |
R8273:Pdzph1
|
UTSW |
17 |
59,280,009 (GRCm39) |
missense |
probably benign |
0.00 |
R8523:Pdzph1
|
UTSW |
17 |
59,191,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8819:Pdzph1
|
UTSW |
17 |
59,187,715 (GRCm39) |
nonsense |
probably null |
|
R8820:Pdzph1
|
UTSW |
17 |
59,187,715 (GRCm39) |
nonsense |
probably null |
|
R8839:Pdzph1
|
UTSW |
17 |
59,257,237 (GRCm39) |
missense |
probably benign |
0.02 |
R8871:Pdzph1
|
UTSW |
17 |
59,195,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R8898:Pdzph1
|
UTSW |
17 |
59,281,334 (GRCm39) |
missense |
probably benign |
0.00 |
R8959:Pdzph1
|
UTSW |
17 |
59,281,599 (GRCm39) |
missense |
probably damaging |
0.97 |
R9043:Pdzph1
|
UTSW |
17 |
59,280,535 (GRCm39) |
missense |
probably benign |
0.05 |
R9083:Pdzph1
|
UTSW |
17 |
59,261,395 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9092:Pdzph1
|
UTSW |
17 |
59,280,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R9757:Pdzph1
|
UTSW |
17 |
59,281,898 (GRCm39) |
nonsense |
probably null |
|
R9774:Pdzph1
|
UTSW |
17 |
59,281,751 (GRCm39) |
missense |
probably benign |
0.00 |
X0028:Pdzph1
|
UTSW |
17 |
59,186,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTATCCGAGGAGTGTATTCATAC -3'
(R):5'- TTAAGCCTGACATGGAATCAAACAG -3'
Sequencing Primer
(F):5'- ATATGGTCATGGTCTGAGAACTTCTC -3'
(R):5'- CAGTAAACATGCTACTTGTACCATAC -3'
|
Posted On |
2022-10-06 |