Incidental Mutation 'R5574:Pdzph1'
ID |
437138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzph1
|
Ensembl Gene |
ENSMUSG00000024227 |
Gene Name |
PDZ and pleckstrin homology domains 1 |
Synonyms |
2610034M16Rik |
MMRRC Submission |
043129-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R5574 (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 59280942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 447
(F447L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
AlphaFold |
Q8BGR1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025064
AA Change: F447L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000025064 Gene: ENSMUSG00000024227 AA Change: F447L
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: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
A |
14: 59,380,205 (GRCm39) |
N31I |
possibly damaging |
Het |
Acvr1b |
T |
A |
15: 101,099,958 (GRCm39) |
M304K |
probably benign |
Het |
Adamts1 |
G |
T |
16: 85,596,530 (GRCm39) |
D106E |
probably damaging |
Het |
Atosa |
A |
T |
9: 74,917,672 (GRCm39) |
D757V |
probably damaging |
Het |
Blm |
C |
A |
7: 80,149,521 (GRCm39) |
C696F |
probably damaging |
Het |
Bnip3l-ps |
T |
A |
12: 18,267,119 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc171 |
A |
T |
4: 83,611,990 (GRCm39) |
N895I |
probably damaging |
Het |
Cdhr4 |
A |
T |
9: 107,870,527 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
T |
C |
8: 46,623,179 (GRCm39) |
S190P |
probably damaging |
Het |
Chrnb1 |
A |
C |
11: 69,684,509 (GRCm39) |
|
probably benign |
Het |
Clns1a |
A |
G |
7: 97,370,165 (GRCm39) |
|
probably benign |
Het |
Col8a2 |
G |
A |
4: 126,205,061 (GRCm39) |
|
probably benign |
Het |
Cr2 |
T |
A |
1: 194,823,544 (GRCm39) |
E721V |
probably damaging |
Het |
Csk |
A |
G |
9: 57,536,584 (GRCm39) |
V172A |
probably benign |
Het |
Cyp2g1 |
G |
A |
7: 26,520,165 (GRCm39) |
V466M |
possibly damaging |
Het |
Cyp4f13 |
A |
G |
17: 33,148,179 (GRCm39) |
Y349H |
probably benign |
Het |
Dnm1l |
T |
C |
16: 16,147,685 (GRCm39) |
Y205C |
probably damaging |
Het |
Dync1i2 |
A |
T |
2: 71,063,994 (GRCm39) |
T113S |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,558,075 (GRCm39) |
E186G |
probably damaging |
Het |
Eya2 |
G |
A |
2: 165,605,736 (GRCm39) |
R380H |
probably damaging |
Het |
Gldn |
A |
G |
9: 54,220,206 (GRCm39) |
T132A |
probably damaging |
Het |
Gm13941 |
A |
T |
2: 110,930,951 (GRCm39) |
I74K |
unknown |
Het |
Gm3898 |
C |
T |
9: 43,741,339 (GRCm39) |
|
noncoding transcript |
Het |
Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
Klhdc10 |
C |
T |
6: 30,439,864 (GRCm39) |
L127F |
possibly damaging |
Het |
Letm1 |
G |
A |
5: 33,926,730 (GRCm39) |
T189M |
possibly damaging |
Het |
Lrrc17 |
A |
T |
5: 21,775,355 (GRCm39) |
I306F |
possibly damaging |
Het |
Lrrk2 |
T |
A |
15: 91,671,219 (GRCm39) |
V2000E |
probably damaging |
Het |
Mettl9 |
A |
T |
7: 120,647,093 (GRCm39) |
E66D |
probably benign |
Het |
Mroh1 |
T |
A |
15: 76,318,131 (GRCm39) |
V877D |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,380,203 (GRCm39) |
V3760M |
possibly damaging |
Het |
Nos3 |
A |
G |
5: 24,573,859 (GRCm39) |
T208A |
possibly damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,590,842 (GRCm39) |
T70S |
possibly damaging |
Het |
Or4a72 |
C |
T |
2: 89,405,321 (GRCm39) |
V250I |
possibly damaging |
Het |
Or52a5b |
T |
G |
7: 103,417,323 (GRCm39) |
I94L |
possibly damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,535 (GRCm39) |
D181G |
probably damaging |
Het |
Or8b8 |
A |
T |
9: 37,808,877 (GRCm39) |
Y59F |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
Pate2 |
A |
G |
9: 35,597,411 (GRCm39) |
|
probably benign |
Het |
Pias1 |
A |
G |
9: 62,827,775 (GRCm39) |
C211R |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,487,291 (GRCm39) |
S929G |
probably benign |
Het |
Pramel32 |
T |
G |
4: 88,546,280 (GRCm39) |
E354A |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,944,290 (GRCm39) |
|
probably benign |
Het |
Prex2 |
A |
G |
1: 11,210,282 (GRCm39) |
D574G |
probably damaging |
Het |
Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
Rmc1 |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,318,063 (GRCm39) |
|
probably null |
Het |
Rock2 |
T |
C |
12: 17,011,642 (GRCm39) |
M690T |
possibly damaging |
Het |
Sinhcaf |
C |
T |
6: 148,846,378 (GRCm39) |
|
probably benign |
Het |
Slc18a2 |
A |
G |
19: 59,249,837 (GRCm39) |
I25V |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,091,323 (GRCm39) |
I701K |
probably benign |
Het |
Sorcs1 |
T |
A |
19: 50,210,571 (GRCm39) |
N765Y |
probably damaging |
Het |
Ssh2 |
A |
T |
11: 77,340,941 (GRCm39) |
I698L |
probably benign |
Het |
Stam |
A |
G |
2: 14,120,675 (GRCm39) |
D58G |
probably damaging |
Het |
Thsd4 |
C |
A |
9: 59,879,683 (GRCm39) |
R1018L |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,929,998 (GRCm39) |
T2911A |
probably benign |
Het |
Trpm7 |
A |
C |
2: 126,654,950 (GRCm39) |
F1329L |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,826,168 (GRCm39) |
E126G |
possibly damaging |
Het |
Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
Unc45a |
G |
A |
7: 79,984,604 (GRCm39) |
A232V |
probably damaging |
Het |
Utp14b |
G |
A |
1: 78,644,126 (GRCm39) |
V675M |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,801,099 (GRCm39) |
H279L |
probably benign |
Het |
Vmn2r75 |
G |
T |
7: 85,815,510 (GRCm39) |
A118E |
probably benign |
Het |
Wdr36 |
A |
T |
18: 32,999,012 (GRCm39) |
Q886L |
probably damaging |
Het |
Zfp433 |
T |
A |
10: 81,555,125 (GRCm39) |
Y27* |
probably null |
Het |
Zfp715 |
A |
T |
7: 42,960,463 (GRCm39) |
S43T |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,286,698 (GRCm39) |
S2297P |
possibly 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 |
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'- AACATCTGCTGACCCTGTGG -3'
(R):5'- TGAAACCTTAAGGACCACGAG -3'
Sequencing Primer
(F):5'- CCTGTGGGACGGACTGAGTAAAG -3'
(R):5'- GGACCACGAGTTTAAATAATGTGG -3'
|
Posted On |
2016-10-26 |