Incidental Mutation 'R6813:Pdzph1'
| ID |
533983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| MMRRC Submission |
044925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59281431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 284
(Q284K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: Q284K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: Q284K
| 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: 99.8%
- 10x: 98.9%
- 20x: 96.9%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
A |
4: 129,903,284 (GRCm39) |
Q603K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,402,519 (GRCm39) |
F503S |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,214,794 (GRCm39) |
M164K |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,029 (GRCm39) |
V166F |
probably damaging |
Het |
| Atm |
T |
G |
9: 53,408,535 (GRCm39) |
R1103S |
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,123 (GRCm39) |
I626T |
probably damaging |
Het |
| Brsk2 |
A |
G |
7: 141,556,214 (GRCm39) |
I649V |
probably benign |
Het |
| Ccdc25 |
T |
A |
14: 66,093,882 (GRCm39) |
M85K |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,294,049 (GRCm39) |
V231A |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,413,894 (GRCm39) |
M767L |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,140 (GRCm39) |
R323K |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,258,766 (GRCm39) |
N2337K |
probably benign |
Het |
| Creld1 |
A |
G |
6: 113,466,530 (GRCm39) |
Y199C |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,245,806 (GRCm39) |
D254E |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,620,485 (GRCm39) |
Q1118* |
probably null |
Het |
| Dcun1d4 |
C |
A |
5: 73,678,300 (GRCm39) |
S98R |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,344,387 (GRCm39) |
P505L |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,941,170 (GRCm39) |
Q240L |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,905,523 (GRCm39) |
K753E |
probably benign |
Het |
| Edil3 |
T |
A |
13: 89,437,575 (GRCm39) |
I392N |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,796,486 (GRCm39) |
S398R |
|
Het |
| Ephb1 |
A |
G |
9: 101,887,247 (GRCm39) |
I464T |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,137,599 (GRCm39) |
|
probably null |
Het |
| Fam111a |
T |
A |
19: 12,564,706 (GRCm39) |
C152S |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,291,653 (GRCm39) |
E599G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,077,482 (GRCm39) |
S259P |
probably benign |
Het |
| Hsfy2 |
A |
G |
1: 56,675,461 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Ifih1 |
C |
T |
2: 62,476,037 (GRCm39) |
V80M |
possibly damaging |
Het |
| Il12rb2 |
A |
C |
6: 67,269,358 (GRCm39) |
D818E |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,236 (GRCm39) |
T334A |
probably benign |
Het |
| Irs2 |
G |
A |
8: 11,054,659 (GRCm39) |
Q1258* |
probably null |
Het |
| Lsm1 |
T |
G |
8: 26,283,721 (GRCm39) |
H44Q |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,099 (GRCm39) |
M1257L |
probably damaging |
Het |
| Myc |
T |
C |
15: 61,860,001 (GRCm39) |
S225P |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,111,286 (GRCm39) |
V1575A |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,949 (GRCm39) |
D380G |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,572,188 (GRCm39) |
D157V |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,917,753 (GRCm39) |
H164L |
probably benign |
Het |
| Or2t44 |
G |
T |
11: 58,677,472 (GRCm39) |
Q137H |
probably benign |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,937,129 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8b9 |
A |
C |
9: 37,766,810 (GRCm39) |
E232A |
possibly damaging |
Het |
| Pccb |
A |
G |
9: 100,905,268 (GRCm39) |
V117A |
probably damaging |
Het |
| Pdp2 |
C |
T |
8: 105,321,131 (GRCm39) |
H327Y |
probably damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,610,865 (GRCm39) |
S751R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,002 (GRCm39) |
H535R |
probably benign |
Het |
| Ppp1r1b |
T |
A |
11: 98,240,002 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,570 (GRCm39) |
V448A |
probably benign |
Het |
| Pvrig-ps |
A |
T |
5: 138,340,312 (GRCm39) |
T28S |
probably benign |
Het |
| Rasgrf1 |
G |
A |
9: 89,892,537 (GRCm39) |
|
probably null |
Het |
| Scnn1g |
T |
C |
7: 121,339,576 (GRCm39) |
L125S |
probably damaging |
Het |
| Slc30a7 |
A |
T |
3: 115,775,460 (GRCm39) |
D221E |
probably benign |
Het |
| Spata31e1 |
T |
A |
13: 49,940,872 (GRCm39) |
R279S |
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,101,622 (GRCm39) |
|
probably null |
Het |
| Tmem33 |
T |
C |
5: 67,421,802 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
A |
T |
8: 79,060,249 (GRCm39) |
T390S |
probably benign |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,439 (GRCm39) |
F354Y |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,116 (GRCm39) |
H119R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
| Wtap |
A |
T |
17: 13,186,397 (GRCm39) |
N383K |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,849 (GRCm39) |
Y693H |
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 |
|
|
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 |
|
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'- AGCAGACTCTCCCTCTTCAG -3'
(R):5'- GGTTTCTAGAAGTGAGGTACCTTC -3'
Sequencing Primer
(F):5'- GAGTCATCTGGGGCTGAAGGC -3'
(R):5'- TGAGGTACCTTCAGTGAACATAAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation