Incidental Mutation 'IGL02548:Pdzph1'
| ID |
297930 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.084)
|
| Stock # |
IGL02548
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59280386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 632
(T632I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: T632I
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T632I
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,654,686 (GRCm39) |
A545V |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,902 (GRCm39) |
L184* |
probably null |
Het |
| Ap1g1 |
C |
T |
8: 110,576,254 (GRCm39) |
A432V |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,814,202 (GRCm39) |
T716I |
probably damaging |
Het |
| Bahd1 |
C |
A |
2: 118,747,526 (GRCm39) |
Q382K |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,603,391 (GRCm39) |
V256A |
probably benign |
Het |
| Camta2 |
A |
G |
11: 70,561,511 (GRCm39) |
F1113L |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,485,901 (GRCm39) |
T38K |
probably benign |
Het |
| Cmtm3 |
T |
C |
8: 105,071,437 (GRCm39) |
L111P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,236,492 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,576,058 (GRCm39) |
R650L |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,096,915 (GRCm39) |
E358V |
probably benign |
Het |
| Ggnbp2 |
A |
T |
11: 84,753,112 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,077,299 (GRCm39) |
T958A |
probably benign |
Het |
| Gm3573 |
A |
G |
14: 42,009,452 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
T |
C |
7: 4,684,840 (GRCm39) |
|
probably benign |
Het |
| Jhy |
G |
T |
9: 40,828,471 (GRCm39) |
Y478* |
probably null |
Het |
| Kiz |
A |
G |
2: 146,712,690 (GRCm39) |
E118G |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,300,492 (GRCm39) |
Y144C |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,810,674 (GRCm39) |
Y848F |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,269 (GRCm39) |
E204G |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,305,594 (GRCm39) |
C202S |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,741,113 (GRCm39) |
S282G |
probably damaging |
Het |
| Or2j6 |
T |
A |
7: 139,980,575 (GRCm39) |
Y128F |
probably damaging |
Het |
| Or5b111 |
T |
C |
19: 13,291,302 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5k8 |
C |
A |
16: 58,644,691 (GRCm39) |
C127F |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,505,281 (GRCm39) |
|
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,545,743 (GRCm39) |
I273T |
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,154,600 (GRCm39) |
Y225C |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,770 (GRCm39) |
Y410F |
probably damaging |
Het |
| Prcp |
T |
C |
7: 92,550,382 (GRCm39) |
F60L |
probably damaging |
Het |
| Psg21 |
C |
T |
7: 18,388,961 (GRCm39) |
V44I |
possibly damaging |
Het |
| Ptgdr |
C |
T |
14: 45,096,071 (GRCm39) |
V214M |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,556,748 (GRCm39) |
R181W |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,286,585 (GRCm39) |
I343M |
probably damaging |
Het |
| Retreg1 |
C |
T |
15: 25,895,204 (GRCm39) |
Q128* |
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,791,679 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,588,273 (GRCm39) |
M726L |
unknown |
Het |
| Slc6a18 |
T |
C |
13: 73,818,114 (GRCm39) |
Y301C |
probably damaging |
Het |
| Slc8a3 |
G |
A |
12: 81,250,930 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
C |
A |
3: 134,535,232 (GRCm39) |
Q67K |
probably damaging |
Het |
| Tfrc |
A |
T |
16: 32,443,640 (GRCm39) |
K534* |
probably null |
Het |
| Timp3 |
T |
A |
10: 86,174,315 (GRCm39) |
M67K |
probably benign |
Het |
| Tmem120a |
C |
T |
5: 135,765,628 (GRCm39) |
E179K |
probably damaging |
Het |
| Tomm40l |
G |
A |
1: 171,049,216 (GRCm39) |
|
probably benign |
Het |
| Tubal3 |
A |
G |
13: 3,980,554 (GRCm39) |
R89G |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 9,074,297 (GRCm39) |
N976I |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,805,416 (GRCm39) |
T2543A |
probably damaging |
Het |
| Zfp976 |
T |
A |
7: 42,261,953 (GRCm39) |
H628L |
unknown |
Het |
| Zmynd8 |
A |
G |
2: 165,675,325 (GRCm39) |
V301A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation