Incidental Mutation 'R6238:Pdzd8'
| ID |
505089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| MMRRC Submission |
044401-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59288994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 802
(V802A)
|
| 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 benign
Transcript: ENSMUST00000099274
AA Change: V802A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: V802A
| 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 |
0.0615 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,096 (GRCm39) |
T2P |
possibly damaging |
Het |
| 2610042L04Rik |
A |
G |
14: 4,348,962 (GRCm38) |
N41S |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,747,863 (GRCm39) |
D43G |
probably benign |
Het |
| Adcy10 |
C |
A |
1: 165,403,297 (GRCm39) |
Y1598* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,614,402 (GRCm39) |
T3997M |
probably benign |
Het |
| Amfr |
A |
C |
8: 94,726,992 (GRCm39) |
F74V |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,924,787 (GRCm39) |
Y91H |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,464,732 (GRCm39) |
S767P |
probably benign |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Casp9 |
G |
T |
4: 141,534,448 (GRCm39) |
G286V |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,828,577 (GRCm39) |
D18E |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,270 (GRCm39) |
N221D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,244,339 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cenpo |
T |
A |
12: 4,281,968 (GRCm39) |
S10C |
possibly damaging |
Het |
| Chid1 |
A |
G |
7: 141,076,049 (GRCm39) |
V368A |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,714,716 (GRCm39) |
V634L |
probably benign |
Het |
| Cmtr1 |
A |
G |
17: 29,901,122 (GRCm39) |
D683G |
probably damaging |
Het |
| Cpsf3 |
G |
T |
12: 21,350,163 (GRCm39) |
R294L |
probably damaging |
Het |
| Ddrgk1 |
G |
A |
2: 130,496,599 (GRCm39) |
T255M |
possibly damaging |
Het |
| Dennd6a |
T |
A |
14: 26,337,813 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,820,743 (GRCm39) |
R526G |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
| Efcab10 |
T |
C |
12: 33,448,433 (GRCm39) |
Y89H |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,806,379 (GRCm39) |
D1200E |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,166,865 (GRCm39) |
D2017V |
probably damaging |
Het |
| Ftmt |
G |
A |
18: 52,465,307 (GRCm39) |
V208M |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,995 (GRCm39) |
Y572H |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,742 (GRCm39) |
K39E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,118,743 (GRCm39) |
|
probably null |
Het |
| Lif |
A |
G |
11: 4,218,940 (GRCm39) |
E73G |
possibly damaging |
Het |
| Lrtm1 |
C |
A |
14: 28,749,628 (GRCm39) |
Q357K |
probably benign |
Het |
| Mef2d |
T |
A |
3: 88,066,852 (GRCm39) |
L205Q |
probably damaging |
Het |
| Naalad2 |
T |
A |
9: 18,296,361 (GRCm39) |
E96D |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,532,596 (GRCm39) |
I1768T |
probably benign |
Het |
| Nodal |
T |
C |
10: 61,259,258 (GRCm39) |
S232P |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,115 (GRCm39) |
I141F |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,715,317 (GRCm39) |
T37A |
probably benign |
Het |
| Parl |
G |
A |
16: 20,120,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,132,028 (GRCm39) |
V366I |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,504 (GRCm39) |
S1083T |
probably benign |
Het |
| Polr2a |
G |
T |
11: 69,638,047 (GRCm39) |
L141I |
possibly damaging |
Het |
| Ptpre |
C |
A |
7: 135,272,909 (GRCm39) |
R468S |
probably damaging |
Het |
| Raet1e |
T |
A |
10: 22,056,770 (GRCm39) |
N115K |
probably benign |
Het |
| Rfx8 |
C |
A |
1: 39,709,554 (GRCm39) |
S491I |
probably damaging |
Het |
| Rpe |
T |
A |
1: 66,740,807 (GRCm39) |
L48* |
probably null |
Het |
| Skint5 |
A |
T |
4: 113,800,064 (GRCm39) |
|
probably null |
Het |
| Spata24 |
C |
A |
18: 35,793,389 (GRCm39) |
S111I |
possibly damaging |
Het |
| Suz12 |
G |
C |
11: 79,893,006 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
T |
A |
2: 179,573,832 (GRCm39) |
I679F |
probably damaging |
Het |
| Tlr1 |
G |
T |
5: 65,084,472 (GRCm39) |
P35Q |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,520,418 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
G |
A |
11: 115,711,513 (GRCm39) |
R310H |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,461,681 (GRCm39) |
S99P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uhmk1 |
T |
A |
1: 170,027,563 (GRCm39) |
N378I |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,849 (GRCm39) |
T55A |
probably benign |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,280 (GRCm39) |
C786Y |
probably damaging |
Het |
| Wdr20rt |
C |
T |
12: 65,272,964 (GRCm39) |
|
probably benign |
Het |
| Zfand2a |
T |
A |
5: 139,467,746 (GRCm39) |
H42L |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,483 (GRCm39) |
C494S |
probably damaging |
Het |
| Zkscan4 |
A |
T |
13: 21,668,757 (GRCm39) |
R403W |
possibly damaging |
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 |
|
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'- AACATACACTGGGAAGCAGC -3'
(R):5'- AAGTGGCTTTAGGATGTCTAGC -3'
Sequencing Primer
(F):5'- CATACACTGGGAAGCAGCTTTTGTC -3'
(R):5'- CATGGAATACCTTACAAAGTTCAGAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation