Incidental Mutation 'R5851:Pdzph1'
| ID |
454701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
044067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
58878808-58991375 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58973746 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 514
(T514P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: T514P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T514P
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930404N11Rik |
A |
T |
10: 81,364,877 (GRCm38) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,442,310 (GRCm38) |
N1452D |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,518,447 (GRCm38) |
L329P |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,236,774 (GRCm38) |
S442P |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,434,980 (GRCm38) |
F228L |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,110,862 (GRCm38) |
Y475N |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,211,612 (GRCm38) |
N1257S |
probably null |
Het |
| Ccdc94 |
C |
T |
17: 55,967,582 (GRCm38) |
S298F |
probably damaging |
Het |
| Cd163l1 |
C |
T |
7: 140,228,027 (GRCm38) |
P704S |
possibly damaging |
Het |
| Cdkl1 |
A |
T |
12: 69,756,564 (GRCm38) |
Y179* |
probably null |
Het |
| Ceacam1 |
T |
C |
7: 25,474,600 (GRCm38) |
N210S |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,479,126 (GRCm38) |
I7N |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,986,970 (GRCm38) |
V55A |
possibly damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,973,078 (GRCm38) |
G305D |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 120,039,362 (GRCm38) |
S1266P |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 105,890,867 (GRCm38) |
L1077P |
probably damaging |
Het |
| Efcab1 |
T |
A |
16: 14,920,436 (GRCm38) |
L155H |
probably damaging |
Het |
| Fam174a |
G |
A |
1: 95,325,143 (GRCm38) |
G157S |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,598,610 (GRCm38) |
D159E |
probably benign |
Het |
| Garem2 |
C |
T |
5: 30,114,290 (GRCm38) |
T250M |
probably damaging |
Het |
| H2-Eb1 |
C |
T |
17: 34,309,771 (GRCm38) |
P92L |
probably benign |
Het |
| Ifnl3 |
G |
T |
7: 28,523,511 (GRCm38) |
C69F |
probably damaging |
Het |
| Itga2b |
C |
A |
11: 102,457,601 (GRCm38) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 50,892,878 (GRCm38) |
D386E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Lor |
G |
A |
3: 92,080,539 (GRCm38) |
A480V |
unknown |
Het |
| Msh3 |
G |
T |
13: 92,215,522 (GRCm38) |
Q1041K |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,383,804 (GRCm38) |
G959E |
probably benign |
Het |
| Nfat5 |
G |
T |
8: 107,347,727 (GRCm38) |
V338L |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,089,976 (GRCm38) |
H18R |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,707,038 (GRCm38) |
D752G |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,700 (GRCm38) |
L2489* |
probably null |
Het |
| Olfr1184 |
A |
G |
2: 88,486,860 (GRCm38) |
I43V |
possibly damaging |
Het |
| Olfr638 |
A |
G |
7: 104,003,452 (GRCm38) |
E59G |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,440,765 (GRCm38) |
S215P |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,670,501 (GRCm38) |
Y26* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,412,758 (GRCm38) |
I296V |
probably benign |
Het |
| Pnlip |
G |
A |
19: 58,673,792 (GRCm38) |
W123* |
probably null |
Het |
| Prmt2 |
C |
A |
10: 76,236,740 (GRCm38) |
C9F |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,167,325 (GRCm38) |
K763N |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,395,198 (GRCm38) |
A28V |
probably damaging |
Het |
| Sdk1 |
G |
A |
5: 141,962,669 (GRCm38) |
V590I |
probably benign |
Het |
| Sele |
A |
G |
1: 164,049,574 (GRCm38) |
K140E |
probably benign |
Het |
| Skiv2l2 |
G |
A |
13: 112,908,952 (GRCm38) |
R349W |
probably damaging |
Het |
| Sla |
G |
A |
15: 66,783,723 (GRCm38) |
T189I |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,906 (GRCm38) |
V339A |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,885,600 (GRCm38) |
F432L |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,691,740 (GRCm38) |
F141S |
possibly damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,847,308 (GRCm38) |
L56S |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,916,770 (GRCm38) |
I53V |
probably benign |
Het |
| Tor2a |
A |
T |
2: 32,761,607 (GRCm38) |
Q278L |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,430,115 (GRCm38) |
M15V |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,235,469 (GRCm38) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,206,268 (GRCm38) |
Q534* |
probably null |
Het |
| Zfp954 |
C |
A |
7: 7,115,625 (GRCm38) |
E307* |
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,126,478 (GRCm38) |
K219E |
probably benign |
Het |
|
| Other mutations in Pdzph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Pdzph1
|
APN |
17 |
58,974,796 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL00644:Pdzph1
|
APN |
17 |
58,888,110 (GRCm38) |
missense |
probably benign |
|
|
IGL01413:Pdzph1
|
APN |
17 |
58,879,152 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01530:Pdzph1
|
APN |
17 |
58,922,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02089:Pdzph1
|
APN |
17 |
58,967,339 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02201:Pdzph1
|
APN |
17 |
58,967,511 (GRCm38) |
splice site |
probably benign |
|
|
IGL02548:Pdzph1
|
APN |
17 |
58,973,391 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02618:Pdzph1
|
APN |
17 |
58,879,073 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02660:Pdzph1
|
APN |
17 |
58,880,647 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02749:Pdzph1
|
APN |
17 |
58,932,483 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02876:Pdzph1
|
APN |
17 |
58,974,069 (GRCm38) |
missense |
probably benign |
|
|
IGL03304:Pdzph1
|
APN |
17 |
58,880,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03336:Pdzph1
|
APN |
17 |
58,974,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0008:Pdzph1
|
UTSW |
17 |
58,922,761 (GRCm38) |
splice site |
probably benign |
|
|
R0008:Pdzph1
|
UTSW |
17 |
58,922,761 (GRCm38) |
splice site |
probably benign |
|
|
R0498:Pdzph1
|
UTSW |
17 |
58,973,830 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0553:Pdzph1
|
UTSW |
17 |
58,922,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0594:Pdzph1
|
UTSW |
17 |
58,954,479 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R1306:Pdzph1
|
UTSW |
17 |
58,932,432 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1370:Pdzph1
|
UTSW |
17 |
58,974,087 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1382:Pdzph1
|
UTSW |
17 |
58,974,747 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1463:Pdzph1
|
UTSW |
17 |
58,932,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1766:Pdzph1
|
UTSW |
17 |
58,973,752 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1773:Pdzph1
|
UTSW |
17 |
58,974,813 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1862:Pdzph1
|
UTSW |
17 |
58,922,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2070:Pdzph1
|
UTSW |
17 |
58,974,097 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2071:Pdzph1
|
UTSW |
17 |
58,974,097 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2229:Pdzph1
|
UTSW |
17 |
58,932,412 (GRCm38) |
splice site |
probably benign |
|
|
R2264:Pdzph1
|
UTSW |
17 |
58,888,167 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2334:Pdzph1
|
UTSW |
17 |
58,922,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3750:Pdzph1
|
UTSW |
17 |
58,973,336 (GRCm38) |
nonsense |
probably null |
|
|
R4700:Pdzph1
|
UTSW |
17 |
58,974,546 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4847:Pdzph1
|
UTSW |
17 |
58,973,530 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4868:Pdzph1
|
UTSW |
17 |
58,974,756 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5130:Pdzph1
|
UTSW |
17 |
58,922,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5329:Pdzph1
|
UTSW |
17 |
58,974,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Pdzph1
|
UTSW |
17 |
58,973,947 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5770:Pdzph1
|
UTSW |
17 |
58,879,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5795:Pdzph1
|
UTSW |
17 |
58,885,867 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5842:Pdzph1
|
UTSW |
17 |
58,974,412 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6158:Pdzph1
|
UTSW |
17 |
58,973,627 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6813:Pdzph1
|
UTSW |
17 |
58,974,436 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7022:Pdzph1
|
UTSW |
17 |
58,974,126 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7395:Pdzph1
|
UTSW |
17 |
58,879,159 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7525:Pdzph1
|
UTSW |
17 |
58,967,341 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7944:Pdzph1
|
UTSW |
17 |
58,932,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7945:Pdzph1
|
UTSW |
17 |
58,932,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7992:Pdzph1
|
UTSW |
17 |
58,879,110 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8016:Pdzph1
|
UTSW |
17 |
58,932,481 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8116:Pdzph1
|
UTSW |
17 |
58,975,143 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8273:Pdzph1
|
UTSW |
17 |
58,973,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8523:Pdzph1
|
UTSW |
17 |
58,884,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8819:Pdzph1
|
UTSW |
17 |
58,880,720 (GRCm38) |
nonsense |
probably null |
|
|
R8820:Pdzph1
|
UTSW |
17 |
58,880,720 (GRCm38) |
nonsense |
probably null |
|
|
R8839:Pdzph1
|
UTSW |
17 |
58,950,242 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8871:Pdzph1
|
UTSW |
17 |
58,888,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8898:Pdzph1
|
UTSW |
17 |
58,974,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8959:Pdzph1
|
UTSW |
17 |
58,974,604 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9043:Pdzph1
|
UTSW |
17 |
58,973,540 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9083:Pdzph1
|
UTSW |
17 |
58,954,400 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9092:Pdzph1
|
UTSW |
17 |
58,973,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9682:Pdzph1
|
UTSW |
17 |
58,950,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9757:Pdzph1
|
UTSW |
17 |
58,974,903 (GRCm38) |
nonsense |
probably null |
|
|
R9774:Pdzph1
|
UTSW |
17 |
58,974,756 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0028:Pdzph1
|
UTSW |
17 |
58,879,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTGTGAATATTGCCATGAAG -3'
(R):5'- AACCTTGCAGCTCTTGGGAG -3'
Sequencing Primer
(F):5'- CTCTTCGGAACTAGAATGCTGCAG -3'
(R):5'- CTCTTGGGAGCAAAAGCAGAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation