Incidental Mutation 'R7759:Pdzd8'
ID |
597773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdzd8
|
Ensembl Gene |
ENSMUSG00000074746 |
Gene Name |
PDZ domain containing 8 |
Synonyms |
Pdzk8, A630041P07Rik |
MMRRC Submission |
045815-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7759 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59288358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1014
(R1014L)
|
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: R1014L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096880 Gene: ENSMUSG00000074746 AA Change: R1014L
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
T |
16: 4,682,514 (GRCm39) |
G215V |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,594,683 (GRCm39) |
G652C |
probably damaging |
Het |
Adck1 |
G |
A |
12: 88,368,887 (GRCm39) |
A122T |
possibly damaging |
Het |
Akap1 |
A |
C |
11: 88,736,659 (GRCm39) |
M34R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,030 (GRCm39) |
R695C |
probably damaging |
Het |
Apon |
T |
A |
10: 128,090,384 (GRCm39) |
W21R |
probably benign |
Het |
Arhgef16 |
T |
C |
4: 154,371,432 (GRCm39) |
T254A |
probably benign |
Het |
Arid5b |
T |
A |
10: 67,933,632 (GRCm39) |
S757C |
probably damaging |
Het |
B020004C17Rik |
A |
C |
14: 57,254,242 (GRCm39) |
I122L |
possibly damaging |
Het |
Bckdhb |
T |
G |
9: 83,892,379 (GRCm39) |
V270G |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,821,145 (GRCm39) |
Y1146H |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,423,668 (GRCm39) |
D1214G |
possibly damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,912 (GRCm39) |
V636A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,704,178 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
G |
15: 47,561,569 (GRCm39) |
S1336P |
|
Het |
Cubn |
A |
G |
2: 13,352,961 (GRCm39) |
Y1926H |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
Eme1 |
A |
T |
11: 94,536,666 (GRCm39) |
Y504* |
probably null |
Het |
Enah |
G |
A |
1: 181,746,009 (GRCm39) |
A687V |
unknown |
Het |
Endou |
A |
C |
15: 97,611,747 (GRCm39) |
V339G |
probably damaging |
Het |
Ephb6 |
G |
A |
6: 41,591,539 (GRCm39) |
R232H |
probably benign |
Het |
Ephx2 |
G |
A |
14: 66,326,968 (GRCm39) |
A409V |
possibly damaging |
Het |
Esd |
T |
A |
14: 74,983,007 (GRCm39) |
C219* |
probably null |
Het |
Fscb |
A |
T |
12: 64,520,866 (GRCm39) |
M200K |
probably benign |
Het |
Gabra6 |
A |
T |
11: 42,208,508 (GRCm39) |
V108D |
probably damaging |
Het |
Gm11555 |
A |
G |
11: 99,540,568 (GRCm39) |
V137A |
unknown |
Het |
Gpld1 |
A |
G |
13: 25,146,383 (GRCm39) |
D209G |
probably damaging |
Het |
Ikzf1 |
T |
A |
11: 11,719,256 (GRCm39) |
I408N |
probably damaging |
Het |
Itgb4 |
A |
G |
11: 115,894,536 (GRCm39) |
R1364G |
possibly damaging |
Het |
Kif26b |
A |
C |
1: 178,506,509 (GRCm39) |
K195T |
probably damaging |
Het |
Mfsd12 |
T |
C |
10: 81,199,427 (GRCm39) |
W440R |
probably benign |
Het |
Mtrr |
C |
T |
13: 68,718,146 (GRCm39) |
E373K |
probably damaging |
Het |
Mug2 |
T |
A |
6: 122,058,317 (GRCm39) |
V1293E |
probably damaging |
Het |
Myof |
C |
A |
19: 37,928,346 (GRCm39) |
A1068S |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,412,672 (GRCm39) |
D720G |
probably damaging |
Het |
Nova2 |
G |
T |
7: 18,692,176 (GRCm39) |
G435V |
|
Het |
Oacyl |
T |
A |
18: 65,843,631 (GRCm39) |
D109E |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,463 (GRCm39) |
M163L |
probably benign |
Het |
Or56a4 |
G |
A |
7: 104,806,232 (GRCm39) |
S219F |
probably damaging |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Ppm1h |
T |
G |
10: 122,740,018 (GRCm39) |
D364E |
probably benign |
Het |
Rigi |
C |
A |
4: 40,225,104 (GRCm39) |
A298S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,107 (GRCm39) |
N2002D |
probably benign |
Het |
Sall1 |
C |
T |
8: 89,768,979 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,477,198 (GRCm39) |
W728* |
probably null |
Het |
Setdb2 |
G |
T |
14: 59,656,813 (GRCm39) |
T168K |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,276 (GRCm39) |
I97V |
probably benign |
Het |
Slc8a3 |
A |
T |
12: 81,361,325 (GRCm39) |
M498K |
probably benign |
Het |
Smpd4 |
A |
T |
16: 17,456,497 (GRCm39) |
E362D |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,940,529 (GRCm39) |
K881* |
probably null |
Het |
Strn4 |
A |
G |
7: 16,564,309 (GRCm39) |
E313G |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,890 (GRCm39) |
N306I |
possibly damaging |
Het |
Tdrd6 |
G |
T |
17: 43,935,730 (GRCm39) |
R1773S |
probably benign |
Het |
Thbs2 |
T |
C |
17: 14,897,321 (GRCm39) |
E729G |
probably damaging |
Het |
Tnfrsf23 |
G |
A |
7: 143,224,572 (GRCm39) |
T135I |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,438,276 (GRCm39) |
M218T |
probably benign |
Het |
Tyk2 |
A |
T |
9: 21,031,554 (GRCm39) |
|
probably null |
Het |
Ubr2 |
G |
A |
17: 47,296,974 (GRCm39) |
R269C |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,185,806 (GRCm39) |
M1459K |
possibly damaging |
Het |
Upf1 |
A |
G |
8: 70,786,730 (GRCm39) |
V929A |
probably benign |
Het |
Usp48 |
T |
C |
4: 137,321,763 (GRCm39) |
S24P |
probably benign |
Het |
Vmn1r214 |
G |
A |
13: 23,218,631 (GRCm39) |
E42K |
not run |
Het |
Vmn1r83 |
G |
T |
7: 12,055,360 (GRCm39) |
D232E |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,800,339 (GRCm39) |
V668I |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,463,991 (GRCm39) |
I281T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,043 (GRCm39) |
Y184N |
probably damaging |
Het |
Zdbf2 |
A |
C |
1: 63,347,535 (GRCm39) |
E1971D |
possibly damaging |
Het |
Zfp568 |
G |
A |
7: 29,722,839 (GRCm39) |
A595T |
possibly damaging |
Het |
Zfy2 |
T |
C |
Y: 2,117,083 (GRCm39) |
D248G |
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 |
|
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 |
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'- TCTCCCGATTTAGCTAAAGCAG -3'
(R):5'- CGTCAAGTCTCTAAAACTCGCC -3'
Sequencing Primer
(F):5'- GCAGCAGAAAGAACTGACTTTTTCC -3'
(R):5'- CCTTTCTGAACCAGGAACAGATCTTG -3'
|
Posted On |
2019-11-26 |