Incidental Mutation 'IGL00163:Pdzph1'
| ID |
772 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzph1
|
| Ensembl Gene |
ENSMUSG00000024227 |
| Gene Name |
PDZ and pleckstrin homology domains 1 |
| Synonyms |
2610034M16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL00163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
59185803-59298344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59281791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 164
(T164A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025064]
|
| AlphaFold |
Q8BGR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025064
AA Change: T164A
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: T164A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
G |
A |
4: 88,786,310 (GRCm39) |
Q103* |
probably null |
Het |
| 4933406P04Rik |
C |
A |
10: 20,186,970 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,343,194 (GRCm39) |
E251G |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,302 (GRCm39) |
H292R |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,498,977 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
T |
A |
5: 103,008,265 (GRCm39) |
M62K |
possibly damaging |
Het |
| Bicd1 |
A |
G |
6: 149,451,888 (GRCm39) |
H834R |
possibly damaging |
Het |
| Ccdc77 |
G |
T |
6: 120,306,045 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,818,818 (GRCm39) |
H337N |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 68,013,871 (GRCm39) |
T2424A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,946,504 (GRCm39) |
T443A |
probably benign |
Het |
| Chrna1 |
T |
A |
2: 73,400,986 (GRCm39) |
E181D |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 49,984,534 (GRCm39) |
D177N |
probably damaging |
Het |
| Eif3h |
T |
A |
15: 51,650,195 (GRCm39) |
I330F |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,697,091 (GRCm39) |
E691G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,893 (GRCm39) |
S230C |
probably benign |
Het |
| Gipc2 |
T |
C |
3: 151,843,215 (GRCm39) |
I141V |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,410 (GRCm39) |
D291V |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,292,334 (GRCm39) |
A420V |
possibly damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,952 (GRCm39) |
|
probably null |
Het |
| Minar1 |
A |
T |
9: 89,473,150 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,387,946 (GRCm39) |
Y16F |
probably benign |
Het |
| Muc4 |
G |
T |
16: 32,754,090 (GRCm38) |
R1322M |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,801,379 (GRCm39) |
I1179T |
probably benign |
Het |
| Nos1ap |
A |
G |
1: 170,342,175 (GRCm39) |
|
probably benign |
Het |
| Npc1l1 |
A |
T |
11: 6,174,199 (GRCm39) |
V702E |
probably damaging |
Het |
| Or13d1 |
G |
A |
4: 52,971,058 (GRCm39) |
V146M |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,012 (GRCm39) |
I255V |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,389,796 (GRCm39) |
R137S |
probably benign |
Het |
| Or2y10 |
A |
C |
11: 49,454,747 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
A |
T |
2: 88,291,696 (GRCm39) |
Y4F |
probably benign |
Het |
| Or4f7 |
A |
C |
2: 111,644,126 (GRCm39) |
|
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,926 (GRCm39) |
L157* |
probably null |
Het |
| Ptn |
T |
C |
6: 36,720,424 (GRCm39) |
K43E |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,209,051 (GRCm39) |
V340A |
probably damaging |
Het |
| Rnf5 |
C |
T |
17: 34,821,083 (GRCm39) |
G83E |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,126,971 (GRCm39) |
Q459K |
probably benign |
Het |
| Serpina5 |
C |
A |
12: 104,071,479 (GRCm39) |
A362D |
probably damaging |
Het |
| Tex47 |
T |
A |
5: 7,355,468 (GRCm39) |
Y216* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,469,170 (GRCm39) |
H984Q |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,815,568 (GRCm39) |
V81A |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,066 (GRCm39) |
S1077R |
probably benign |
Het |
| Trgv3 |
G |
A |
13: 19,427,381 (GRCm39) |
S88N |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,153,428 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
T |
C |
7: 139,610,935 (GRCm39) |
T149A |
possibly damaging |
Het |
| Ulk1 |
G |
A |
5: 110,935,738 (GRCm39) |
A25V |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,895,110 (GRCm39) |
E378G |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,476,479 (GRCm39) |
N311S |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,429 (GRCm39) |
Y144H |
possibly damaging |
Het |
|
| Other mutations in Pdzph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation