Incidental Mutation 'IGL02186:Pdzd8'
| ID |
283629 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02186
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59289060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 780
(G780D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026084]
[ENSMUST00000099274]
|
| AlphaFold |
B9EJ80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026084
|
| SMART Domains |
Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
428 |
6.8e-40 |
PFAM |
|
Pfam:Sugar_tr
|
26 |
284 |
5.9e-10 |
PFAM |
|
Pfam:MFS_2
|
127 |
457 |
4.3e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099274
AA Change: G780D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: G780D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
PDZ
|
374 |
448 |
2.02e-10 |
SMART |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
C1
|
834 |
884 |
8.31e-8 |
SMART |
|
coiled coil region
|
1021 |
1057 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
G |
5: 66,145,811 (GRCm39) |
F100S |
unknown |
Het |
| Abca3 |
A |
G |
17: 24,596,714 (GRCm39) |
Y389C |
possibly damaging |
Het |
| Acrbp |
G |
T |
6: 125,031,773 (GRCm39) |
|
probably null |
Het |
| Adam21 |
G |
A |
12: 81,605,983 (GRCm39) |
T593I |
possibly damaging |
Het |
| Adipor1 |
T |
A |
1: 134,353,698 (GRCm39) |
M161K |
probably benign |
Het |
| Agrp |
A |
T |
8: 106,293,821 (GRCm39) |
N48K |
probably benign |
Het |
| Asprv1 |
A |
T |
6: 86,605,900 (GRCm39) |
M249L |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,278 (GRCm39) |
Y703H |
probably damaging |
Het |
| Bspry |
T |
A |
4: 62,414,226 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
T |
G |
5: 25,721,836 (GRCm39) |
S184A |
probably benign |
Het |
| Cdk13 |
C |
T |
13: 17,947,112 (GRCm39) |
V549I |
probably benign |
Het |
| Cdyl2 |
C |
T |
8: 117,306,025 (GRCm39) |
R412Q |
possibly damaging |
Het |
| Celf6 |
T |
C |
9: 59,510,808 (GRCm39) |
S205P |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,595,811 (GRCm39) |
A1263V |
possibly damaging |
Het |
| Cltc |
C |
A |
11: 86,595,812 (GRCm39) |
A1263S |
possibly damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,480,939 (GRCm39) |
F62L |
probably damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,695 (GRCm39) |
C1473S |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,694,986 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,856,896 (GRCm39) |
V176I |
probably benign |
Het |
| Dusp1 |
G |
T |
17: 26,726,032 (GRCm39) |
Y220* |
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,667,881 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,649,755 (GRCm39) |
L395P |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,677,693 (GRCm39) |
K533R |
probably damaging |
Het |
| Gcm2 |
T |
A |
13: 41,258,125 (GRCm39) |
T168S |
possibly damaging |
Het |
| Gm9924 |
C |
A |
5: 31,252,491 (GRCm39) |
|
probably benign |
Het |
| Ifrd1 |
A |
G |
12: 40,264,092 (GRCm39) |
V101A |
probably benign |
Het |
| Iqsec1 |
G |
T |
6: 90,653,859 (GRCm39) |
Q629K |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,576,881 (GRCm39) |
M254L |
probably benign |
Het |
| Krit1 |
T |
C |
5: 3,859,733 (GRCm39) |
|
probably benign |
Het |
| Letm1 |
T |
C |
5: 33,902,391 (GRCm39) |
K633E |
probably benign |
Het |
| Mfsd1 |
A |
G |
3: 67,503,928 (GRCm39) |
I307V |
probably benign |
Het |
| Mtrr |
T |
C |
13: 68,712,476 (GRCm39) |
T637A |
probably benign |
Het |
| Naxe |
C |
A |
3: 87,964,305 (GRCm39) |
D212Y |
probably damaging |
Het |
| Nlk |
A |
T |
11: 78,477,762 (GRCm39) |
V327D |
probably damaging |
Het |
| Or2f1b |
A |
G |
6: 42,739,880 (GRCm39) |
K298R |
probably null |
Het |
| Or5w11 |
A |
T |
2: 87,459,715 (GRCm39) |
I187F |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,166,548 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,618,606 (GRCm39) |
H645Q |
probably damaging |
Het |
| Rd3l |
A |
G |
12: 111,945,901 (GRCm39) |
Y193H |
probably benign |
Het |
| Reln |
A |
G |
5: 22,114,956 (GRCm39) |
Y3119H |
probably damaging |
Het |
| Scel |
C |
T |
14: 103,802,257 (GRCm39) |
A219V |
probably benign |
Het |
| Skint11 |
A |
T |
4: 114,101,833 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc5a5 |
C |
A |
8: 71,338,764 (GRCm39) |
D516Y |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,665,928 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
A |
G |
13: 74,311,233 (GRCm39) |
E576G |
possibly damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,580,271 (GRCm39) |
|
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,209,223 (GRCm39) |
V647A |
probably damaging |
Het |
| Snph |
T |
C |
2: 151,436,263 (GRCm39) |
N222D |
possibly damaging |
Het |
| Srbd1 |
A |
G |
17: 86,416,659 (GRCm39) |
F500L |
probably benign |
Het |
| Stxbp6 |
T |
C |
12: 44,948,806 (GRCm39) |
D101G |
probably damaging |
Het |
| Taar7b |
A |
G |
10: 23,875,879 (GRCm39) |
I15V |
probably benign |
Het |
| Tdrd12 |
G |
T |
7: 35,200,826 (GRCm39) |
N338K |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,495,988 (GRCm39) |
D128E |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,992,166 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,724,627 (GRCm39) |
|
probably benign |
Het |
| Uchl1 |
C |
A |
5: 66,834,382 (GRCm39) |
C47* |
probably null |
Het |
| Unc79 |
T |
G |
12: 102,977,542 (GRCm39) |
S182A |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,989,138 (GRCm39) |
T26A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,256,947 (GRCm39) |
V685A |
probably damaging |
Het |
| Zcchc7 |
T |
G |
4: 44,762,250 (GRCm39) |
V126G |
possibly damaging |
Het |
| Zmym2 |
A |
G |
14: 57,180,808 (GRCm39) |
T907A |
probably benign |
Het |
|
| Other mutations in Pdzd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Pdzd8
|
APN |
19 |
59,288,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01321:Pdzd8
|
APN |
19 |
59,289,961 (GRCm39) |
missense |
probably benign |
|
|
IGL01865:Pdzd8
|
APN |
19 |
59,288,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02044:Pdzd8
|
APN |
19 |
59,303,724 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02119:Pdzd8
|
APN |
19 |
59,288,922 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02389:Pdzd8
|
APN |
19 |
59,289,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02479:Pdzd8
|
APN |
19 |
59,288,215 (GRCm39) |
nonsense |
probably null |
|
|
IGL02713:Pdzd8
|
APN |
19 |
59,333,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02958:Pdzd8
|
APN |
19 |
59,288,804 (GRCm39) |
nonsense |
probably null |
|
|
IGL02966:Pdzd8
|
APN |
19 |
59,289,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03166:Pdzd8
|
APN |
19 |
59,288,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
citadel
|
UTSW |
19 |
59,287,957 (GRCm39) |
makesense |
probably null |
|
|
Eleventh_hour
|
UTSW |
19 |
59,293,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
keep
|
UTSW |
19 |
59,289,783 (GRCm39) |
nonsense |
probably null |
|
|
Stronghold
|
UTSW |
19 |
59,333,784 (GRCm39) |
nonsense |
probably null |
|
|
R0018:Pdzd8
|
UTSW |
19 |
59,289,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Pdzd8
|
UTSW |
19 |
59,288,028 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0196:Pdzd8
|
UTSW |
19 |
59,289,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Pdzd8
|
UTSW |
19 |
59,288,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Pdzd8
|
UTSW |
19 |
59,288,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0418:Pdzd8
|
UTSW |
19 |
59,289,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0736:Pdzd8
|
UTSW |
19 |
59,333,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1456:Pdzd8
|
UTSW |
19 |
59,288,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1709:Pdzd8
|
UTSW |
19 |
59,289,771 (GRCm39) |
missense |
probably benign |
|
|
R1965:Pdzd8
|
UTSW |
19 |
59,288,554 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2155:Pdzd8
|
UTSW |
19 |
59,288,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3077:Pdzd8
|
UTSW |
19 |
59,293,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3411:Pdzd8
|
UTSW |
19 |
59,333,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Pdzd8
|
UTSW |
19 |
59,288,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4354:Pdzd8
|
UTSW |
19 |
59,333,913 (GRCm39) |
missense |
probably benign |
|
|
R4504:Pdzd8
|
UTSW |
19 |
59,333,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Pdzd8
|
UTSW |
19 |
59,293,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Pdzd8
|
UTSW |
19 |
59,333,743 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4773:Pdzd8
|
UTSW |
19 |
59,289,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Pdzd8
|
UTSW |
19 |
59,289,236 (GRCm39) |
nonsense |
probably null |
|
|
R5176:Pdzd8
|
UTSW |
19 |
59,333,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Pdzd8
|
UTSW |
19 |
59,289,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Pdzd8
|
UTSW |
19 |
59,288,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5766:Pdzd8
|
UTSW |
19 |
59,288,972 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5903:Pdzd8
|
UTSW |
19 |
59,333,718 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6036:Pdzd8
|
UTSW |
19 |
59,293,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Pdzd8
|
UTSW |
19 |
59,293,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Pdzd8
|
UTSW |
19 |
59,288,994 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6360:Pdzd8
|
UTSW |
19 |
59,289,415 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6509:Pdzd8
|
UTSW |
19 |
59,333,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6674:Pdzd8
|
UTSW |
19 |
59,289,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Pdzd8
|
UTSW |
19 |
59,287,957 (GRCm39) |
makesense |
probably null |
|
|
R6902:Pdzd8
|
UTSW |
19 |
59,289,829 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7017:Pdzd8
|
UTSW |
19 |
59,333,784 (GRCm39) |
nonsense |
probably null |
|
|
R7088:Pdzd8
|
UTSW |
19 |
59,333,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Pdzd8
|
UTSW |
19 |
59,288,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Pdzd8
|
UTSW |
19 |
59,288,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Pdzd8
|
UTSW |
19 |
59,333,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Pdzd8
|
UTSW |
19 |
59,289,077 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7314:Pdzd8
|
UTSW |
19 |
59,289,783 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Pdzd8
|
UTSW |
19 |
59,333,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Pdzd8
|
UTSW |
19 |
59,333,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7759:Pdzd8
|
UTSW |
19 |
59,288,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Pdzd8
|
UTSW |
19 |
59,316,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pdzd8
|
UTSW |
19 |
59,333,518 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9364:Pdzd8
|
UTSW |
19 |
59,333,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Pdzd8
|
UTSW |
19 |
59,289,219 (GRCm39) |
nonsense |
probably null |
|
|
R9406:Pdzd8
|
UTSW |
19 |
59,333,245 (GRCm39) |
missense |
|
|
|
R9548:Pdzd8
|
UTSW |
19 |
59,289,826 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9554:Pdzd8
|
UTSW |
19 |
59,333,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Pdzd8
|
UTSW |
19 |
59,333,683 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9750:Pdzd8
|
UTSW |
19 |
59,289,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation