Incidental Mutation 'IGL02089:Pdzph1'
| ID |
279348 |
| 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: 0.091)
|
| Stock # |
IGL02089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59274334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 837
(I837F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025064
AA Change: I837F
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: I837F
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330160F10Rik |
C |
T |
11: 68,951,013 (GRCm39) |
|
silent |
Het |
| Adck1 |
G |
T |
12: 88,413,480 (GRCm39) |
V271F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,507,437 (GRCm39) |
D116G |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,505,853 (GRCm39) |
V661E |
probably damaging |
Het |
| Apoa5 |
T |
C |
9: 46,180,437 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
C |
T |
14: 60,264,369 (GRCm39) |
|
probably null |
Het |
| Bnipl |
A |
T |
3: 95,157,577 (GRCm39) |
|
probably benign |
Het |
| Cbs |
T |
G |
17: 31,834,519 (GRCm39) |
D490A |
probably benign |
Het |
| Chrdl1 |
G |
T |
X: 142,086,510 (GRCm39) |
H199N |
possibly damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,740,310 (GRCm39) |
T1232I |
probably benign |
Het |
| Ddx19b |
T |
C |
8: 111,735,477 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,369,024 (GRCm39) |
K805E |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,852,395 (GRCm39) |
N135D |
probably benign |
Het |
| Fbxw18 |
C |
T |
9: 109,530,390 (GRCm39) |
V74I |
probably benign |
Het |
| Fmo4 |
G |
T |
1: 162,626,649 (GRCm39) |
T299N |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,953,147 (GRCm39) |
K540E |
probably damaging |
Het |
| H60c |
T |
A |
10: 3,209,826 (GRCm39) |
S154C |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,388,151 (GRCm39) |
L3812S |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,261,724 (GRCm39) |
D937G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,398 (GRCm39) |
D1079G |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,631,774 (GRCm39) |
W438R |
probably benign |
Het |
| Lypla2 |
C |
T |
4: 135,696,932 (GRCm39) |
V117I |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,216,220 (GRCm39) |
Y516C |
probably damaging |
Het |
| Mmp24 |
G |
A |
2: 155,654,213 (GRCm39) |
G397D |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,416,987 (GRCm39) |
V3311G |
probably benign |
Het |
| Naca |
A |
G |
10: 127,872,358 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,395,829 (GRCm39) |
V109A |
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,053,680 (GRCm39) |
D279A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,934,066 (GRCm39) |
I126F |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,721,460 (GRCm39) |
S20P |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,074,361 (GRCm39) |
V305E |
possibly damaging |
Het |
| Pcdh19 |
A |
T |
X: 132,489,245 (GRCm39) |
M977K |
probably benign |
Het |
| Phip |
A |
T |
9: 82,753,372 (GRCm39) |
L1791M |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,700,489 (GRCm39) |
V1816I |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,033,447 (GRCm39) |
V1063M |
probably damaging |
Het |
| Qprt |
A |
T |
7: 126,707,528 (GRCm39) |
M220K |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,937,475 (GRCm39) |
K391E |
possibly damaging |
Het |
| Rbbp7 |
C |
A |
X: 161,554,052 (GRCm39) |
P162Q |
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,701,095 (GRCm39) |
N1864I |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,669,556 (GRCm39) |
I84T |
possibly damaging |
Het |
| Rnase2b |
A |
T |
14: 51,400,240 (GRCm39) |
K107I |
probably benign |
Het |
| Sbf1 |
C |
A |
15: 89,186,708 (GRCm39) |
E864* |
probably null |
Het |
| Strip2 |
G |
A |
6: 29,917,179 (GRCm39) |
|
probably benign |
Het |
| Stx4a |
T |
C |
7: 127,447,570 (GRCm39) |
I238T |
probably damaging |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,412 (GRCm39) |
V577I |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,591 (GRCm39) |
T71A |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,712,343 (GRCm39) |
E564G |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,280,689 (GRCm39) |
L644Q |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,877 (GRCm39) |
F300S |
possibly damaging |
Het |
| Zpld1 |
A |
G |
16: 55,071,974 (GRCm39) |
I95T |
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 |
|
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 |
|
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