Incidental Mutation 'R5329:Pdzph1'
ID |
422249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzph1
|
Ensembl Gene |
ENSMUSG00000024227 |
Gene Name |
PDZ and pleckstrin homology domains 1 |
Synonyms |
2610034M16Rik |
MMRRC Submission |
042911-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R5329 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59281875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 136
(I136F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025064
AA Change: I136F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: I136F
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430005L14Rik |
G |
A |
4: 154,044,284 (GRCm39) |
V32I |
probably benign |
Het |
Abcg4 |
A |
T |
9: 44,190,842 (GRCm39) |
M19K |
probably benign |
Het |
Acsm1 |
A |
G |
7: 119,255,274 (GRCm39) |
T392A |
probably benign |
Het |
Adam19 |
A |
T |
11: 46,015,853 (GRCm39) |
I338F |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,807,612 (GRCm39) |
M349I |
probably damaging |
Het |
Arhgef11 |
T |
A |
3: 87,587,059 (GRCm39) |
|
probably benign |
Het |
Bptf |
T |
C |
11: 106,964,121 (GRCm39) |
D1628G |
probably benign |
Het |
Camk2d |
C |
T |
3: 126,391,131 (GRCm39) |
Q15* |
probably null |
Het |
Camk2g |
T |
G |
14: 20,843,999 (GRCm39) |
D12A |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,775,693 (GRCm39) |
I312T |
probably benign |
Het |
Cgn |
T |
C |
3: 94,687,300 (GRCm39) |
M1V |
probably null |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Dcbld1 |
C |
A |
10: 52,160,353 (GRCm39) |
|
probably benign |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Efcab3 |
T |
G |
11: 104,644,632 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
A |
15: 102,220,953 (GRCm39) |
L903Q |
probably damaging |
Het |
Gm5117 |
T |
A |
8: 32,227,910 (GRCm39) |
|
noncoding transcript |
Het |
Gm5150 |
T |
C |
3: 16,017,588 (GRCm39) |
T228A |
probably benign |
Het |
Gm5435 |
A |
T |
12: 82,543,250 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,825,810 (GRCm39) |
C676S |
probably benign |
Het |
Gstt3 |
C |
T |
10: 75,610,685 (GRCm39) |
E230K |
possibly damaging |
Het |
Jarid2 |
A |
G |
13: 45,059,747 (GRCm39) |
I660V |
possibly damaging |
Het |
Kif13a |
A |
G |
13: 46,928,877 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
A |
5: 123,902,254 (GRCm39) |
V299D |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lipk |
T |
A |
19: 33,997,613 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
T |
C |
18: 77,420,378 (GRCm39) |
L334P |
probably damaging |
Het |
Macc1 |
T |
A |
12: 119,410,212 (GRCm39) |
Y327N |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,010,876 (GRCm39) |
S705L |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Ncam2 |
A |
T |
16: 81,231,707 (GRCm39) |
Q57L |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,522,102 (GRCm39) |
E645G |
probably damaging |
Het |
Nfatc1 |
A |
T |
18: 80,751,332 (GRCm39) |
M1K |
probably null |
Het |
Nlrp9b |
A |
T |
7: 19,757,916 (GRCm39) |
R384S |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,780,354 (GRCm39) |
H62R |
possibly damaging |
Het |
Or2h2b-ps1 |
T |
A |
17: 37,480,891 (GRCm39) |
Y216F |
probably damaging |
Het |
Or4c125 |
T |
A |
2: 89,169,803 (GRCm39) |
Y281F |
probably damaging |
Het |
Or51i1 |
T |
C |
7: 103,671,204 (GRCm39) |
H107R |
probably damaging |
Het |
Or8b39 |
A |
T |
9: 37,996,422 (GRCm39) |
M97L |
probably benign |
Het |
Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,462,026 (GRCm39) |
I119T |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,294,762 (GRCm39) |
H215R |
probably damaging |
Het |
Septin14 |
C |
T |
5: 129,762,978 (GRCm39) |
|
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,299,079 (GRCm39) |
M166T |
possibly damaging |
Het |
Spock3 |
A |
G |
8: 63,798,816 (GRCm39) |
D279G |
probably damaging |
Het |
Suco |
T |
C |
1: 161,660,999 (GRCm39) |
I967V |
probably damaging |
Het |
Tgtp1 |
A |
G |
11: 48,878,003 (GRCm39) |
L234P |
probably damaging |
Het |
Tmem176a |
A |
G |
6: 48,819,151 (GRCm39) |
D4G |
probably benign |
Het |
Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
Uox |
A |
G |
3: 146,330,300 (GRCm39) |
D152G |
probably damaging |
Het |
Vmn1r35 |
C |
T |
6: 66,656,490 (GRCm39) |
W60* |
probably null |
Het |
Vmn2r103 |
T |
C |
17: 20,032,433 (GRCm39) |
C736R |
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 |
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'- TGTGTTTAGAGAAGTGACCCCG -3'
(R):5'- AGGGACACACTTCTGAGACTG -3'
Sequencing Primer
(F):5'- TTTAGAGAAGTGACCCCGAGATTTG -3'
(R):5'- GAGACTGTGTTTCATCAGACTAGGAC -3'
|
Posted On |
2016-08-04 |