Incidental Mutation 'R0018:Pdzd8'
| ID |
177888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| MMRRC Submission |
038313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0018 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59289105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 765
(R765H)
|
| 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: R765H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: R765H
| 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 |
0.1923 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,532,162 (GRCm39) |
|
probably null |
Het |
| Afp |
A |
C |
5: 90,654,600 (GRCm39) |
Q546P |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,251,329 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,005,087 (GRCm39) |
Q592* |
probably null |
Het |
| Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
| Ccn1 |
A |
G |
3: 145,355,186 (GRCm39) |
L23P |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
| Chga |
T |
C |
12: 102,524,764 (GRCm39) |
S45P |
probably damaging |
Het |
| Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
| Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,326,096 (GRCm39) |
S820C |
unknown |
Het |
| Efcab3 |
G |
A |
11: 104,612,378 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,057,970 (GRCm39) |
S91P |
unknown |
Het |
| Epop |
A |
G |
11: 97,519,017 (GRCm39) |
V364A |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,037 (GRCm39) |
P341L |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,724 (GRCm39) |
T429A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
| H2-M10.6 |
A |
C |
17: 37,124,941 (GRCm39) |
H286P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,392,242 (GRCm39) |
N169D |
possibly damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,528,302 (GRCm39) |
D3282G |
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,893,640 (GRCm39) |
N285Y |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,717 (GRCm39) |
R450G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
| Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,082,327 (GRCm39) |
D264V |
probably benign |
Het |
| Man2b1 |
T |
A |
8: 85,824,118 (GRCm39) |
V1005E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
| Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,452 (GRCm39) |
I289V |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,934 (GRCm39) |
T240P |
probably benign |
Het |
| Plk1 |
T |
C |
7: 121,768,208 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
| Ptchd3 |
A |
C |
11: 121,733,170 (GRCm39) |
I687L |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,604,845 (GRCm39) |
|
probably null |
Het |
| Pus3 |
A |
G |
9: 35,477,920 (GRCm39) |
D384G |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,354 (GRCm39) |
P181S |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,130,369 (GRCm39) |
D2647E |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,610,109 (GRCm39) |
T4239I |
possibly damaging |
Het |
| Sctr |
C |
A |
1: 119,971,286 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,021,828 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,157,301 (GRCm39) |
I31V |
probably benign |
Het |
| Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
| Stk24 |
G |
A |
14: 121,545,419 (GRCm39) |
|
probably benign |
Het |
| Vmn1r213 |
T |
A |
13: 23,196,311 (GRCm39) |
V298D |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAAGCAGCTTTTGTCCAAAC -3'
(R):5'- TCAAGAACCAGAGCGTCCTGTGTG -3'
Sequencing Primer
(F):5'- ATCACACCAAGTTGGGTTCTG -3'
(R):5'- GTTTGACATAGAAGCCTGCC -3'
|
| Posted On |
2014-04-30 |
Incidental Mutation