Incidental Mutation 'R5770:Pdzph1'
ID |
446526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzph1
|
Ensembl Gene |
ENSMUSG00000024227 |
Gene Name |
PDZ and pleckstrin homology domains 1 |
Synonyms |
2610034M16Rik |
MMRRC Submission |
043370-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R5770 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59186146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1215
(I1215N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
[ENSMUST00000177360]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025064
AA Change: I1215N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: I1215N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177108
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177360
AA Change: I175N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000135180 Gene: ENSMUSG00000024227 AA Change: I175N
Domain | Start | End | E-Value | Type |
SCOP:d1faoa_
|
1 |
54 |
1e-4 |
SMART |
Blast:PH
|
1 |
56 |
4e-33 |
BLAST |
PH
|
80 |
178 |
2.83e-13 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
93% (64/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030C10Rik |
T |
C |
12: 20,865,460 (GRCm39) |
|
noncoding transcript |
Het |
Abhd8 |
A |
G |
8: 71,909,972 (GRCm39) |
V392A |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,728,310 (GRCm39) |
E480G |
probably benign |
Het |
Ankfy1 |
C |
G |
11: 72,651,082 (GRCm39) |
H1011D |
probably damaging |
Het |
Aoc3 |
T |
G |
11: 101,222,578 (GRCm39) |
Y271* |
probably null |
Het |
Bcl9 |
T |
C |
3: 97,122,491 (GRCm39) |
I103V |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,552,769 (GRCm39) |
|
probably null |
Het |
Cyp2c23 |
T |
A |
19: 44,010,018 (GRCm39) |
D109V |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,965,669 (GRCm39) |
W13R |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,037,500 (GRCm39) |
|
probably benign |
Het |
Desi2 |
A |
T |
1: 178,084,061 (GRCm39) |
|
probably benign |
Het |
Dll3 |
T |
C |
7: 27,998,434 (GRCm39) |
E177G |
possibly damaging |
Het |
Ern2 |
C |
T |
7: 121,779,130 (GRCm39) |
G238D |
possibly damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm6133 |
A |
G |
18: 78,393,464 (GRCm39) |
K153E |
probably benign |
Het |
Gpr68 |
A |
T |
12: 100,845,080 (GRCm39) |
Y155N |
probably benign |
Het |
Hcrtr2 |
T |
A |
9: 76,166,948 (GRCm39) |
I130F |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,122,228 (GRCm39) |
K489R |
probably benign |
Het |
Ints13 |
T |
C |
6: 146,456,571 (GRCm39) |
N425S |
probably damaging |
Het |
Itpkc |
T |
C |
7: 26,912,413 (GRCm39) |
D578G |
probably damaging |
Het |
Kcns3 |
A |
G |
12: 11,142,250 (GRCm39) |
S150P |
probably benign |
Het |
Khdrbs3 |
T |
A |
15: 68,921,312 (GRCm39) |
|
probably null |
Het |
Kif11 |
A |
G |
19: 37,379,313 (GRCm39) |
I335V |
probably benign |
Het |
Lrrn4 |
C |
G |
2: 132,714,076 (GRCm39) |
C290S |
probably damaging |
Het |
Macrod2 |
T |
C |
2: 141,074,102 (GRCm39) |
|
probably benign |
Het |
Mgam |
A |
G |
6: 40,646,738 (GRCm39) |
N688S |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,188,026 (GRCm39) |
E933K |
probably damaging |
Het |
Nat8f5 |
T |
C |
6: 85,794,657 (GRCm39) |
Y101C |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,168,188 (GRCm39) |
V23A |
probably benign |
Het |
Nkx2-3 |
T |
A |
19: 43,602,972 (GRCm39) |
F193I |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,449,414 (GRCm39) |
V172E |
probably benign |
Het |
Nmrk1 |
G |
T |
19: 18,622,438 (GRCm39) |
R172S |
probably benign |
Het |
Nudcd3 |
T |
C |
11: 6,063,286 (GRCm39) |
D201G |
probably damaging |
Het |
Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
Or10g9b |
C |
T |
9: 39,917,634 (GRCm39) |
V204I |
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,190,856 (GRCm39) |
Y259C |
probably damaging |
Het |
Or2t44 |
G |
A |
11: 58,677,420 (GRCm39) |
R120H |
probably benign |
Het |
Or2y14 |
A |
G |
11: 49,405,419 (GRCm39) |
E318G |
unknown |
Het |
Or4c12b |
T |
A |
2: 89,646,893 (GRCm39) |
D68E |
probably damaging |
Het |
Or56a3 |
A |
T |
7: 104,740,102 (GRCm39) |
I248N |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,514 (GRCm39) |
Y119* |
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
Pcdh9 |
G |
A |
14: 94,124,379 (GRCm39) |
T597I |
probably damaging |
Het |
Pcdhb19 |
A |
G |
18: 37,631,090 (GRCm39) |
N295S |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,731,607 (GRCm39) |
|
probably benign |
Het |
Phf21a |
C |
T |
2: 92,182,199 (GRCm39) |
T405I |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,781,757 (GRCm39) |
G763W |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,134,154 (GRCm39) |
F591L |
probably benign |
Het |
Robo3 |
T |
A |
9: 37,330,497 (GRCm39) |
H1033L |
possibly damaging |
Het |
Sdha |
A |
T |
13: 74,471,239 (GRCm39) |
C222* |
probably null |
Het |
Sec16a |
T |
C |
2: 26,304,402 (GRCm39) |
D2303G |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,092,466 (GRCm39) |
I238M |
probably benign |
Het |
Slc16a5 |
A |
G |
11: 115,363,604 (GRCm39) |
K422E |
possibly damaging |
Het |
Slc22a30 |
A |
T |
19: 8,363,891 (GRCm39) |
M232K |
probably damaging |
Het |
Slc35b3 |
A |
T |
13: 39,121,734 (GRCm39) |
F300I |
probably damaging |
Het |
Spata2l |
A |
G |
8: 123,962,459 (GRCm39) |
V34A |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,256,885 (GRCm39) |
Q1597L |
possibly damaging |
Het |
Tgfb1i1 |
A |
T |
7: 127,847,719 (GRCm39) |
|
probably benign |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,807 (GRCm39) |
T234A |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,520 (GRCm39) |
Y684C |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,163,536 (GRCm39) |
M585K |
unknown |
Het |
Zfp292 |
A |
G |
4: 34,806,747 (GRCm39) |
I2099T |
probably damaging |
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 |
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 |
R9682:Pdzph1
|
UTSW |
17 |
59,257,262 (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'- GCCTAGGCTTTAATGTAAGTGC -3'
(R):5'- ATCCACAGAGCATGTTTATCCC -3'
Sequencing Primer
(F):5'- CCTAGGCTTTAATGTAAGTGCAGTAC -3'
(R):5'- CAGAGCATGTTTATCCCATTAATTCC -3'
|
Posted On |
2016-11-21 |