Incidental Mutation 'R8959:Pdzph1'
ID |
682237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzph1
|
Ensembl Gene |
ENSMUSG00000024227 |
Gene Name |
PDZ and pleckstrin homology domains 1 |
Synonyms |
2610034M16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R8959 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59281599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 228
(K228E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025064
AA Change: K228E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: K228E
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: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
G |
T |
7: 43,906,399 (GRCm39) |
T51K |
possibly damaging |
Het |
Angel2 |
C |
T |
1: 190,665,332 (GRCm39) |
R88C |
probably damaging |
Het |
Ankrd13b |
G |
A |
11: 77,367,452 (GRCm39) |
R181C |
probably damaging |
Het |
Bmal2 |
T |
C |
6: 146,722,142 (GRCm39) |
C238R |
probably benign |
Het |
Brd3 |
C |
T |
2: 27,354,013 (GRCm39) |
R33Q |
probably damaging |
Het |
Ccdc106 |
T |
A |
7: 5,060,500 (GRCm39) |
L20Q |
probably benign |
Het |
Ccdc117 |
A |
T |
11: 5,491,421 (GRCm39) |
V62D |
possibly damaging |
Het |
Ccnt1 |
T |
C |
15: 98,441,096 (GRCm39) |
|
probably benign |
Het |
Cfap95 |
T |
C |
19: 23,536,385 (GRCm39) |
E174G |
possibly damaging |
Het |
Cmip |
G |
A |
8: 118,138,054 (GRCm39) |
V178I |
probably benign |
Het |
Cnnm3 |
A |
G |
1: 36,558,096 (GRCm39) |
E436G |
probably damaging |
Het |
Dcaf11 |
A |
G |
14: 55,806,761 (GRCm39) |
N488S |
probably benign |
Het |
Dlg2 |
A |
T |
7: 90,501,927 (GRCm39) |
K80* |
probably null |
Het |
Dnase1l2 |
T |
A |
17: 24,661,642 (GRCm39) |
D39V |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
Enpep |
A |
T |
3: 129,113,090 (GRCm39) |
L278Q |
probably damaging |
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Flt3 |
T |
G |
5: 147,303,774 (GRCm39) |
Q388P |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,136,936 (GRCm39) |
Y329C |
probably damaging |
Het |
Hmcn2 |
C |
T |
2: 31,282,159 (GRCm39) |
P1924S |
probably damaging |
Het |
Iba57 |
A |
G |
11: 59,052,461 (GRCm39) |
V122A |
probably benign |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Irak2 |
T |
A |
6: 113,624,702 (GRCm39) |
M66K |
probably damaging |
Het |
Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
Mpped1 |
G |
A |
15: 83,676,342 (GRCm39) |
R36Q |
probably damaging |
Het |
Myh1 |
C |
A |
11: 67,102,328 (GRCm39) |
A873E |
probably benign |
Het |
Nedd9 |
G |
T |
13: 41,469,758 (GRCm39) |
A465D |
probably damaging |
Het |
Nr2f1 |
G |
T |
13: 78,337,873 (GRCm39) |
Y257* |
probably null |
Het |
Omd |
A |
G |
13: 49,745,790 (GRCm39) |
E400G |
possibly damaging |
Het |
Or5j1 |
T |
A |
2: 86,879,551 (GRCm39) |
T10S |
possibly damaging |
Het |
Or6c202 |
A |
G |
10: 128,996,484 (GRCm39) |
I123T |
probably damaging |
Het |
Patj |
T |
C |
4: 98,480,212 (GRCm39) |
S1306P |
probably damaging |
Het |
Prl2c5 |
A |
G |
13: 13,365,392 (GRCm39) |
|
probably benign |
Het |
Rad18 |
T |
C |
6: 112,605,444 (GRCm39) |
E410G |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,419,650 (GRCm39) |
|
probably benign |
Het |
Runx3 |
C |
T |
4: 134,902,968 (GRCm39) |
S366L |
probably damaging |
Het |
Ssh3 |
T |
A |
19: 4,318,590 (GRCm39) |
R30S |
probably damaging |
Het |
Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
Taf6l |
A |
G |
19: 8,750,690 (GRCm39) |
F128S |
possibly damaging |
Het |
Tmc6 |
A |
C |
11: 117,661,293 (GRCm39) |
|
probably null |
Het |
Trpc3 |
T |
G |
3: 36,709,258 (GRCm39) |
Q406P |
probably benign |
Het |
Uncx |
C |
A |
5: 139,529,826 (GRCm39) |
Y26* |
probably null |
Het |
Urb1 |
T |
C |
16: 90,571,005 (GRCm39) |
D1268G |
probably benign |
Het |
Wif1 |
T |
C |
10: 120,931,957 (GRCm39) |
C294R |
probably damaging |
Het |
Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,382,380 (GRCm39) |
R477G |
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 |
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 |
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'- AGCATTAACACTACAGGGAGC -3'
(R):5'- CACCAACATTATTCTGTCCAGC -3'
Sequencing Primer
(F):5'- CATGAAAAGCATCTGAACTCTGGTG -3'
(R):5'- CATTATTCTGTCCAGCAAGTATGG -3'
|
Posted On |
2021-08-31 |