Incidental Mutation 'R0498:Pdzph1'
ID |
40635 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzph1
|
Ensembl Gene |
ENSMUSG00000024227 |
Gene Name |
PDZ and pleckstrin homology domains 1 |
Synonyms |
2610034M16Rik |
MMRRC Submission |
038694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R0498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59280825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 486
(F486L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: F486L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: F486L
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,718 (GRCm39) |
D220V |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,562,716 (GRCm39) |
V219A |
probably benign |
Het |
Anapc10 |
A |
G |
8: 80,501,610 (GRCm39) |
D126G |
probably benign |
Het |
Ap1m2 |
T |
C |
9: 21,207,129 (GRCm39) |
*426W |
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,867,928 (GRCm39) |
I865T |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,379,345 (GRCm39) |
V527A |
probably damaging |
Het |
Asic5 |
A |
T |
3: 81,913,778 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
C |
2: 59,732,340 (GRCm39) |
|
probably benign |
Het |
Bpifa5 |
T |
C |
2: 154,009,169 (GRCm39) |
V237A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,088,745 (GRCm39) |
K52I |
possibly damaging |
Het |
Cacna1g |
T |
C |
11: 94,350,685 (GRCm39) |
I387V |
probably damaging |
Het |
Cbr4 |
A |
G |
8: 61,948,107 (GRCm39) |
I135V |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,222,197 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,449,078 (GRCm39) |
T999M |
probably damaging |
Het |
Dnai3 |
G |
T |
3: 145,787,119 (GRCm39) |
D305E |
possibly damaging |
Het |
Dpp8 |
C |
T |
9: 64,953,077 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,390 (GRCm39) |
S966P |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,896,862 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,034,786 (GRCm39) |
I2813L |
probably benign |
Het |
Fhod1 |
G |
A |
8: 106,056,488 (GRCm39) |
R1101C |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,892,359 (GRCm39) |
S191P |
probably damaging |
Het |
Izumo4 |
T |
C |
10: 80,540,030 (GRCm39) |
|
probably null |
Het |
Kalrn |
C |
T |
16: 33,875,261 (GRCm39) |
D104N |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,667,873 (GRCm39) |
D191E |
probably benign |
Het |
Kbtbd11 |
A |
G |
8: 15,077,605 (GRCm39) |
E68G |
probably benign |
Het |
Kdr |
C |
T |
5: 76,119,798 (GRCm39) |
V654I |
probably benign |
Het |
Klra1 |
A |
T |
6: 130,349,782 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
A |
5: 23,683,970 (GRCm39) |
Y373* |
probably null |
Het |
Lepr |
A |
T |
4: 101,602,889 (GRCm39) |
M226L |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,348,417 (GRCm39) |
I800F |
probably benign |
Het |
Lta4h |
T |
C |
10: 93,307,833 (GRCm39) |
|
probably benign |
Het |
Map3k7 |
T |
C |
4: 31,974,814 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,029,338 (GRCm39) |
R371Q |
probably benign |
Het |
Mgat4f |
A |
G |
1: 134,318,610 (GRCm39) |
I461V |
possibly damaging |
Het |
Mme |
A |
G |
3: 63,253,487 (GRCm39) |
I444V |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,938,212 (GRCm39) |
R582Q |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,817,286 (GRCm39) |
S502P |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,467,441 (GRCm39) |
A232S |
possibly damaging |
Het |
Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
Or4k15 |
A |
C |
14: 50,364,750 (GRCm39) |
T239P |
probably damaging |
Het |
Or8b12 |
G |
A |
9: 37,657,550 (GRCm39) |
G40E |
probably damaging |
Het |
Pcm1 |
G |
A |
8: 41,746,806 (GRCm39) |
S1335N |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,235,245 (GRCm39) |
K552R |
possibly damaging |
Het |
Plekhs1 |
T |
A |
19: 56,469,536 (GRCm39) |
|
probably null |
Het |
Pprc1 |
C |
T |
19: 46,060,007 (GRCm39) |
Q1514* |
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,736,576 (GRCm39) |
T1831A |
possibly damaging |
Het |
Rnpep |
G |
T |
1: 135,193,090 (GRCm39) |
D455E |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,771 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
A |
T |
4: 86,397,133 (GRCm39) |
M135K |
possibly damaging |
Het |
Serpina12 |
T |
C |
12: 104,002,048 (GRCm39) |
T223A |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,880 (GRCm39) |
F218L |
probably damaging |
Het |
Serpinb9f |
T |
G |
13: 33,509,990 (GRCm39) |
|
probably benign |
Het |
Spata33 |
A |
G |
8: 123,948,662 (GRCm39) |
D98G |
probably benign |
Het |
Stard13 |
T |
A |
5: 150,975,942 (GRCm39) |
Y742F |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,288,910 (GRCm39) |
Y552H |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,336,358 (GRCm39) |
|
probably benign |
Het |
Tmem161a |
A |
G |
8: 70,633,623 (GRCm39) |
T254A |
probably benign |
Het |
Tmem30a |
G |
T |
9: 79,681,376 (GRCm39) |
Y264* |
probably null |
Het |
Tmem87a |
A |
T |
2: 120,224,946 (GRCm39) |
I105K |
probably benign |
Het |
Tnrc6b |
A |
T |
15: 80,742,920 (GRCm39) |
D51V |
probably damaging |
Het |
Trgc3 |
T |
A |
13: 19,445,262 (GRCm39) |
M70K |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,198,632 (GRCm39) |
F519L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,539,925 (GRCm39) |
T26027A |
probably damaging |
Het |
Vmn1r198 |
A |
C |
13: 22,539,144 (GRCm39) |
H121P |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,709,024 (GRCm39) |
F64L |
probably benign |
Het |
Zfp1008 |
T |
C |
13: 62,755,201 (GRCm39) |
N39S |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,419,882 (GRCm39) |
C356S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGGATGCAATCGTGACAGC -3'
(R):5'- CAGCAGGAACAAATGGTCCCCTAAG -3'
Sequencing Primer
(F):5'- AGGAGTCGTTATGTAAACTAGCC -3'
(R):5'- AAATGGTCCCCTAAGTGCTG -3'
|
Posted On |
2013-05-23 |