Incidental Mutation 'IGL01413:Pdzph1'
ID |
80131 |
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 # |
IGL01413
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59186147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1215
(I1215V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
[ENSMUST00000177360]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025064
AA Change: I1215V
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: I1215V
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 benign
Transcript: ENSMUST00000177360
AA Change: I175V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000135180 Gene: ENSMUSG00000024227 AA Change: I175V
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa2 |
A |
T |
18: 74,939,015 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
T |
A |
8: 84,656,486 (GRCm39) |
I268N |
probably damaging |
Het |
Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
Ass1 |
A |
G |
2: 31,366,934 (GRCm39) |
Y11C |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,644,632 (GRCm39) |
E448G |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,915,343 (GRCm39) |
S639P |
probably damaging |
Het |
Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,448,969 (GRCm39) |
G1207E |
unknown |
Het |
Cracdl |
G |
A |
1: 37,651,387 (GRCm39) |
A1160V |
possibly damaging |
Het |
Cthrc1 |
T |
A |
15: 38,943,894 (GRCm39) |
L58Q |
possibly damaging |
Het |
Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
Dlgap1 |
C |
A |
17: 70,823,069 (GRCm39) |
A18E |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,323,790 (GRCm39) |
L3707F |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,120,812 (GRCm39) |
M669K |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,151,191 (GRCm39) |
N289D |
probably benign |
Het |
Fbrsl1 |
T |
A |
5: 110,526,114 (GRCm39) |
E443D |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,052,239 (GRCm39) |
C288* |
probably null |
Het |
Gabbr1 |
A |
G |
17: 37,373,598 (GRCm39) |
N498S |
possibly damaging |
Het |
Gja10 |
T |
C |
4: 32,602,070 (GRCm39) |
K105E |
probably damaging |
Het |
Glra4 |
C |
T |
X: 135,663,493 (GRCm39) |
R352H |
probably benign |
Het |
Gm19402 |
G |
T |
10: 77,526,323 (GRCm39) |
|
probably benign |
Het |
Hadha |
T |
A |
5: 30,346,025 (GRCm39) |
M200L |
probably benign |
Het |
Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
Huwe1 |
A |
T |
X: 150,665,676 (GRCm39) |
Q1231L |
possibly damaging |
Het |
Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
Il1rl1 |
A |
T |
1: 40,485,329 (GRCm39) |
K260N |
possibly damaging |
Het |
Lhx6 |
C |
A |
2: 35,993,528 (GRCm39) |
A57S |
probably benign |
Het |
Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
Met |
T |
C |
6: 17,558,895 (GRCm39) |
|
probably benign |
Het |
Mgam |
A |
G |
6: 40,638,211 (GRCm39) |
D387G |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,302,411 (GRCm39) |
S287P |
probably benign |
Het |
Nol8 |
T |
G |
13: 49,813,428 (GRCm39) |
N140K |
possibly damaging |
Het |
Nrap |
C |
A |
19: 56,377,823 (GRCm39) |
A56S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,876,030 (GRCm39) |
T548A |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
Or2i1 |
A |
T |
17: 37,508,554 (GRCm39) |
F102I |
possibly damaging |
Het |
Pcdh11x |
A |
G |
X: 119,309,282 (GRCm39) |
T242A |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
Plekha8 |
C |
T |
6: 54,599,261 (GRCm39) |
T265I |
probably benign |
Het |
Pou4f2 |
T |
A |
8: 79,161,734 (GRCm39) |
I290F |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
Rab28 |
A |
T |
5: 41,855,790 (GRCm39) |
D68E |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
Samd4 |
A |
G |
14: 47,254,249 (GRCm39) |
T137A |
probably benign |
Het |
Serpinb1b |
T |
G |
13: 33,277,842 (GRCm39) |
D358E |
probably damaging |
Het |
Serpinb9c |
G |
A |
13: 33,335,787 (GRCm39) |
L222F |
probably damaging |
Het |
Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
Spef2 |
T |
A |
15: 9,676,376 (GRCm39) |
I732L |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,999 (GRCm39) |
|
probably benign |
Het |
Ssxb13 |
A |
G |
X: 8,615,692 (GRCm39) |
E75G |
probably benign |
Het |
Stmnd1 |
A |
T |
13: 46,453,157 (GRCm39) |
I278L |
probably benign |
Het |
Strap |
C |
A |
6: 137,722,502 (GRCm39) |
|
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Tcf4 |
A |
C |
18: 69,788,090 (GRCm39) |
E160D |
probably damaging |
Het |
Themis3 |
A |
G |
17: 66,863,092 (GRCm39) |
Y289H |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,033,678 (GRCm39) |
V963A |
possibly damaging |
Het |
Trav19 |
G |
T |
14: 54,083,072 (GRCm39) |
C49F |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
Usp9x |
A |
G |
X: 13,017,579 (GRCm39) |
S1696G |
probably benign |
Het |
Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
Vmn1r185 |
A |
T |
7: 26,311,046 (GRCm39) |
V153E |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,827 (GRCm39) |
T174A |
probably benign |
Het |
Wdr59 |
T |
A |
8: 112,227,706 (GRCm39) |
S124C |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,340,270 (GRCm39) |
D837V |
probably damaging |
Het |
Zfp185 |
A |
G |
X: 72,061,997 (GRCm39) |
D403G |
possibly damaging |
Het |
Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
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 |
|
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 |
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 |
2013-11-05 |