Incidental Mutation 'R7158:Pdzd8'
| ID |
557477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| MMRRC Submission |
045329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59288589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 937
(R937H)
|
| 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: R937H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: R937H
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,223,982 (GRCm39) |
M454L |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,825,415 (GRCm39) |
E1595V |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,334 (GRCm39) |
C155S |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,091,939 (GRCm39) |
V73E |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,062,934 (GRCm39) |
Y31H |
probably damaging |
Het |
| Akap13 |
G |
T |
7: 75,229,342 (GRCm39) |
V92F |
probably damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,696 (GRCm39) |
M568L |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,901,371 (GRCm39) |
E1145V |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,105,407 (GRCm39) |
C644* |
probably null |
Het |
| Cacng1 |
A |
T |
11: 107,594,665 (GRCm39) |
M166K |
probably damaging |
Het |
| Ces1f |
A |
G |
8: 93,994,644 (GRCm39) |
F256L |
probably benign |
Het |
| Clpb |
A |
G |
7: 101,313,039 (GRCm39) |
R8G |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,741,407 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Coq8a |
T |
C |
1: 180,006,749 (GRCm39) |
D93G |
probably benign |
Het |
| Cry2 |
A |
T |
2: 92,244,060 (GRCm39) |
I371N |
probably damaging |
Het |
| Ddx43 |
A |
C |
9: 78,319,501 (GRCm39) |
Q276H |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,589 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,313,366 (GRCm39) |
T4378A |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,245,789 (GRCm39) |
T459A |
probably benign |
Het |
| Gm10097 |
C |
T |
10: 5,019,407 (GRCm39) |
A72V |
unknown |
Het |
| Hydin |
A |
G |
8: 111,336,303 (GRCm39) |
S5027G |
possibly damaging |
Het |
| Inhbb |
A |
T |
1: 119,348,752 (GRCm39) |
L22* |
probably null |
Het |
| Kat8 |
G |
A |
7: 127,521,331 (GRCm39) |
G228S |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,828,379 (GRCm39) |
S897T |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,511,773 (GRCm39) |
Y1460C |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,860,241 (GRCm39) |
D225V |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,589,869 (GRCm39) |
I800F |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,725,121 (GRCm39) |
T2580K |
probably benign |
Het |
| Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,764,318 (GRCm39) |
F470L |
probably benign |
Het |
| Nfic |
C |
T |
10: 81,256,439 (GRCm39) |
R75Q |
probably damaging |
Het |
| Nme2 |
G |
A |
11: 93,846,484 (GRCm39) |
|
probably benign |
Het |
| Nrg4 |
A |
G |
9: 55,149,384 (GRCm39) |
L71P |
probably damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,263,943 (GRCm39) |
E365K |
possibly damaging |
Het |
| Pappa |
T |
C |
4: 65,123,104 (GRCm39) |
I813T |
possibly damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,853,938 (GRCm39) |
E111G |
probably damaging |
Het |
| Per1 |
T |
G |
11: 68,994,930 (GRCm39) |
|
probably benign |
Het |
| Pex2 |
A |
G |
3: 5,626,396 (GRCm39) |
F138L |
probably benign |
Het |
| Pold1 |
A |
T |
7: 44,188,290 (GRCm39) |
N529K |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,326,623 (GRCm39) |
I316V |
|
Het |
| Prom1 |
A |
C |
5: 44,170,255 (GRCm39) |
I682S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,042,565 (GRCm39) |
K481E |
probably damaging |
Het |
| Prrg4 |
A |
T |
2: 104,662,958 (GRCm39) |
V216E |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,981 (GRCm39) |
P1168S |
possibly damaging |
Het |
| Pvr |
C |
A |
7: 19,652,562 (GRCm39) |
E118* |
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,868 (GRCm39) |
P716S |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,875 (GRCm39) |
E382G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,677,513 (GRCm39) |
M487K |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,500,779 (GRCm39) |
|
probably null |
Het |
| Shmt1 |
T |
C |
11: 60,681,068 (GRCm39) |
I353V |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,042,474 (GRCm39) |
T819I |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,416,883 (GRCm39) |
F56Y |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,449,737 (GRCm39) |
V79L |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,549,044 (GRCm39) |
T165A |
probably damaging |
Het |
| Smchd1 |
A |
C |
17: 71,707,145 (GRCm39) |
I941R |
probably damaging |
Het |
| Syne1 |
C |
A |
10: 5,007,931 (GRCm39) |
V98F |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,648,055 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tdrd9 |
G |
C |
12: 112,002,800 (GRCm39) |
E816D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,214,083 (GRCm39) |
K326E |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,975,171 (GRCm39) |
M1V |
probably null |
Het |
| Wdr62 |
C |
T |
7: 29,970,163 (GRCm39) |
V215I |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,398,906 (GRCm39) |
T4153A |
unknown |
Het |
| Zfp239 |
G |
T |
6: 117,848,690 (GRCm39) |
E143* |
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,808,679 (GRCm39) |
D1460G |
probably benign |
Het |
| Zfp647 |
C |
T |
15: 76,801,505 (GRCm39) |
G90R |
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 |
|
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'- AGCCTCTGTACAGATCACGAC -3'
(R):5'- CACCTCTTTGTGGAGCAACTG -3'
Sequencing Primer
(F):5'- TCTGTACAGATCACGACCAATTTC -3'
(R):5'- CTTTGTGGAGCAACTGAGAGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation