Incidental Mutation 'R3411:Pdzd8'
| ID |
332768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| MMRRC Submission |
040629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3411 (G1)
|
| Quality Score |
77 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59333845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 59
(Y59H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099274]
|
| AlphaFold |
B9EJ80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099274
AA Change: Y59H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: Y59H
| 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 |
|
| Meta Mutation Damage Score |
0.2427 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,596 (GRCm39) |
V675D |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,902,572 (GRCm39) |
M1K |
probably null |
Het |
| AI429214 |
C |
T |
8: 37,461,071 (GRCm39) |
S73L |
probably benign |
Het |
| Apc |
C |
A |
18: 34,402,312 (GRCm39) |
|
probably benign |
Het |
| Apcs |
T |
C |
1: 172,722,130 (GRCm39) |
Y72C |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,108,299 (GRCm39) |
|
probably benign |
Het |
| Armcx4 |
C |
A |
X: 133,591,774 (GRCm39) |
Q561K |
probably benign |
Het |
| Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
| Bank1 |
G |
A |
3: 135,953,534 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,395,932 (GRCm39) |
D805G |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Egfem1 |
C |
T |
3: 29,637,170 (GRCm39) |
T202I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,651,897 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,881,416 (GRCm39) |
T1263A |
possibly damaging |
Het |
| Gm6802 |
C |
A |
12: 19,540,621 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
C |
A |
2: 32,192,954 (GRCm39) |
A424E |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,140,290 (GRCm39) |
F333L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
C |
9: 81,514,094 (GRCm39) |
V171G |
probably benign |
Het |
| Kalrn |
G |
T |
16: 34,032,642 (GRCm39) |
D1117E |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,482,845 (GRCm39) |
N1408S |
possibly damaging |
Het |
| Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,974,572 (GRCm39) |
|
noncoding transcript |
Het |
| Mast2 |
C |
G |
4: 116,168,107 (GRCm39) |
E881Q |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,322 (GRCm39) |
T155A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,963,491 (GRCm39) |
F326L |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,818 (GRCm39) |
R170S |
possibly damaging |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,986 (GRCm39) |
S110G |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,721,266 (GRCm39) |
Q427R |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,945 (GRCm39) |
E622G |
probably damaging |
Het |
| Psmc3 |
A |
C |
2: 90,886,263 (GRCm39) |
D159A |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,132,572 (GRCm39) |
A108E |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
| Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,208,188 (GRCm39) |
E233K |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,752,008 (GRCm39) |
T183A |
probably benign |
Het |
| Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,794,618 (GRCm39) |
Y83C |
probably damaging |
Het |
| Sypl2 |
C |
T |
3: 108,124,045 (GRCm39) |
V166I |
possibly damaging |
Het |
| Tal2 |
A |
G |
4: 53,785,843 (GRCm39) |
N8S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,507 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
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 |
|
IGL02186:Pdzd8
|
APN |
19 |
59,289,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATCTTCTTGGTGACCCAG -3'
(R):5'- GCGACCGATGTCCTCAAGAT -3'
Sequencing Primer
(F):5'- TTGGTGACCCAGCGGCG -3'
(R):5'- CTCAAGATGGAGGCGGC -3'
|
| Posted On |
2015-08-17 |
Incidental Mutation