Incidental Mutation 'R7525:Pdzph1'
| ID |
582947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
045597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59274336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 836
(V836A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025064
AA Change: V836A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V836A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,221 (GRCm39) |
T998A |
probably damaging |
Het |
| Aadacl4fm2 |
A |
G |
4: 144,291,580 (GRCm39) |
F42S |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Akt3 |
T |
A |
1: 176,847,673 (GRCm39) |
K465* |
probably null |
Het |
| Ankar |
T |
C |
1: 72,727,800 (GRCm39) |
D371G |
probably benign |
Het |
| Ankib1 |
T |
G |
5: 3,805,734 (GRCm39) |
N178H |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,146,699 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,848,785 (GRCm39) |
D286G |
probably damaging |
Het |
| Bsdc1 |
A |
T |
4: 129,355,477 (GRCm39) |
|
probably benign |
Het |
| Camk4 |
T |
C |
18: 33,318,085 (GRCm39) |
V414A |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,338,293 (GRCm39) |
V139E |
possibly damaging |
Het |
| Dhrs13 |
C |
A |
11: 77,923,260 (GRCm39) |
N21K |
unknown |
Het |
| Dop1a |
C |
T |
9: 86,388,343 (GRCm39) |
A439V |
probably damaging |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,160 (GRCm39) |
Q13* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,847,038 (GRCm39) |
I508T |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,823,716 (GRCm39) |
S388P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,974 (GRCm39) |
S251G |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,753,379 (GRCm39) |
L350Q |
probably damaging |
Het |
| Fblim1 |
A |
T |
4: 141,317,391 (GRCm39) |
L98H |
probably damaging |
Het |
| Fcrl6 |
T |
A |
1: 172,425,239 (GRCm39) |
N264I |
probably benign |
Het |
| Gzme |
A |
C |
14: 56,356,790 (GRCm39) |
D57E |
probably benign |
Het |
| H2-D1 |
A |
G |
17: 35,484,909 (GRCm39) |
T257A |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,481,728 (GRCm39) |
D3092E |
possibly damaging |
Het |
| Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,666,435 (GRCm39) |
L315P |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,642 (GRCm39) |
Y591N |
probably damaging |
Het |
| Lrch4 |
T |
A |
5: 137,637,727 (GRCm39) |
I582N |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,450 (GRCm39) |
K505E |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,547,428 (GRCm39) |
N4251K |
|
Het |
| Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
| Mgam |
T |
G |
6: 40,742,954 (GRCm39) |
N1791K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,566,899 (GRCm39) |
I450N |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,809,357 (GRCm39) |
M1771I |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,691 (GRCm39) |
F123L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,188,338 (GRCm39) |
C34* |
probably null |
Het |
| Or8d1 |
A |
T |
9: 38,766,534 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8g55 |
T |
A |
9: 39,785,435 (GRCm39) |
L288* |
probably null |
Het |
| Parp14 |
A |
T |
16: 35,677,861 (GRCm39) |
H702Q |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,795,281 (GRCm39) |
L95P |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,619,954 (GRCm39) |
T373A |
probably damaging |
Het |
| Pgap1 |
T |
A |
1: 54,570,081 (GRCm39) |
N322I |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,585 (GRCm39) |
R741* |
probably null |
Het |
| Pip4k2c |
A |
G |
10: 127,044,773 (GRCm39) |
S80P |
probably damaging |
Het |
| Plekhh3 |
A |
G |
11: 101,057,445 (GRCm39) |
F271L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,490,191 (GRCm39) |
Y565F |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,374,701 (GRCm39) |
R612G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
| Slc24a3 |
A |
C |
2: 145,455,450 (GRCm39) |
K446N |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,499,272 (GRCm39) |
M661K |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,908,537 (GRCm39) |
L39P |
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,135,559 (GRCm39) |
|
probably null |
Het |
| Taar8c |
T |
C |
10: 23,977,764 (GRCm39) |
N16S |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,708,344 (GRCm39) |
T105A |
probably damaging |
Het |
| Tmub1 |
T |
A |
5: 24,651,011 (GRCm39) |
Y216F |
probably damaging |
Het |
| Trim16 |
T |
G |
11: 62,711,580 (GRCm39) |
C84G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,561,573 (GRCm39) |
K28978* |
probably null |
Het |
| Usp38 |
A |
G |
8: 81,740,875 (GRCm39) |
V64A |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,406 (GRCm39) |
F469Y |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,610,510 (GRCm39) |
W61R |
probably benign |
Het |
| Whamm |
G |
T |
7: 81,243,598 (GRCm39) |
G607C |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,842,752 (GRCm39) |
D268G |
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 |
|
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 |
|
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'- CTCAAGGTCATCTCCCAAGAAG -3'
(R):5'- CTGGTTTCATCTAGACCAGAATTTG -3'
Sequencing Primer
(F):5'- GGTCATCTCCCAAGAAGTAGTTC -3'
(R):5'- TTTGGAGATCAATAACCCCCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation