Incidental Mutation 'R9368:Pdzd8'
| ID |
709171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd8
|
| Ensembl Gene |
ENSMUSG00000074746 |
| Gene Name |
PDZ domain containing 8 |
| Synonyms |
Pdzk8, A630041P07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
59285610-59334212 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 59289219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 727
(L727*)
|
| 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 null
Transcript: ENSMUST00000099274
AA Change: L727*
|
| SMART Domains |
Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746
AA Change: L727*
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,640,251 (GRCm39) |
L79H |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,623,143 (GRCm39) |
T601A |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,331,816 (GRCm39) |
L776* |
probably null |
Het |
| Ank3 |
A |
G |
10: 69,823,329 (GRCm39) |
K666R |
|
Het |
| Ankrd17 |
T |
C |
5: 90,391,986 (GRCm39) |
T1895A |
possibly damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
| Ap2a2 |
T |
C |
7: 141,207,815 (GRCm39) |
F738L |
probably benign |
Het |
| Ap4m1 |
T |
A |
5: 138,175,445 (GRCm39) |
C319* |
probably null |
Het |
| Arsj |
C |
T |
3: 126,232,745 (GRCm39) |
T497M |
probably damaging |
Het |
| Begain |
G |
T |
12: 108,999,918 (GRCm39) |
S284R |
probably damaging |
Het |
| Bicc1 |
A |
T |
10: 70,785,917 (GRCm39) |
N408K |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,031,208 (GRCm39) |
M207V |
possibly damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,336 (GRCm39) |
D17G |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,905,939 (GRCm39) |
|
probably null |
Het |
| Chd3 |
C |
T |
11: 69,251,200 (GRCm39) |
C554Y |
probably damaging |
Het |
| Chsy1 |
A |
G |
7: 65,821,499 (GRCm39) |
D578G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,663,300 (GRCm39) |
Q79R |
possibly damaging |
Het |
| Cpne4 |
A |
T |
9: 104,563,738 (GRCm39) |
R38S |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,159 (GRCm39) |
D380G |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 72,998,261 (GRCm39) |
S4054T |
probably benign |
Het |
| Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,762,837 (GRCm39) |
R1648G |
probably benign |
Het |
| Fam117b |
A |
T |
1: 60,020,740 (GRCm39) |
M537L |
probably benign |
Het |
| Fcrl2 |
C |
T |
3: 87,164,906 (GRCm39) |
V207I |
possibly damaging |
Het |
| Ffar1 |
A |
G |
7: 30,560,457 (GRCm39) |
S147P |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,885,216 (GRCm39) |
R110Q |
probably benign |
Het |
| Frmd6 |
T |
A |
12: 70,933,865 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
G |
5: 150,401,403 (GRCm39) |
R356G |
|
Het |
| Fsip2 |
A |
G |
2: 82,811,039 (GRCm39) |
R2453G |
possibly damaging |
Het |
| Glipr1l3 |
G |
A |
10: 111,983,923 (GRCm39) |
T181I |
probably benign |
Het |
| Hoxc10 |
A |
G |
15: 102,879,382 (GRCm39) |
I301V |
possibly damaging |
Het |
| Igf2bp2 |
T |
A |
16: 21,883,895 (GRCm39) |
D463V |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,467,129 (GRCm39) |
D194G |
probably null |
Het |
| Kif5c |
A |
T |
2: 49,622,792 (GRCm39) |
E548V |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,357,979 (GRCm39) |
D350G |
probably damaging |
Het |
| Lrrc61 |
T |
C |
6: 48,545,245 (GRCm39) |
S23P |
possibly damaging |
Het |
| Mcpt4 |
T |
C |
14: 56,299,134 (GRCm39) |
M35V |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,357,302 (GRCm39) |
M369K |
possibly damaging |
Het |
| Mre11a |
T |
A |
9: 14,736,514 (GRCm39) |
F548L |
probably benign |
Het |
| Muc20 |
C |
T |
16: 32,614,471 (GRCm39) |
C302Y |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,488,622 (GRCm39) |
D571G |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,858,756 (GRCm39) |
K131E |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,962,306 (GRCm39) |
D630G |
probably damaging |
Het |
| Or3a1 |
A |
G |
11: 74,225,193 (GRCm39) |
L288P |
probably damaging |
Het |
| Or5h19 |
C |
T |
16: 58,856,678 (GRCm39) |
V141M |
probably benign |
Het |
| Or6c212 |
A |
T |
10: 129,558,881 (GRCm39) |
C177* |
probably null |
Het |
| Pi16 |
T |
A |
17: 29,546,852 (GRCm39) |
N475K |
probably benign |
Het |
| Pikfyve |
G |
A |
1: 65,307,901 (GRCm39) |
A1826T |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,314,138 (GRCm39) |
S768T |
probably benign |
Het |
| Plxnc1 |
T |
A |
10: 94,700,599 (GRCm39) |
R656* |
probably null |
Het |
| Poglut1 |
A |
G |
16: 38,349,850 (GRCm39) |
W308R |
probably damaging |
Het |
| Prmt9 |
T |
G |
8: 78,285,663 (GRCm39) |
V165G |
probably benign |
Het |
| Ptch2 |
A |
G |
4: 116,961,969 (GRCm39) |
E102G |
probably damaging |
Het |
| Rpn2 |
G |
T |
2: 157,141,500 (GRCm39) |
A303S |
possibly damaging |
Het |
| Rttn |
A |
C |
18: 89,078,576 (GRCm39) |
H1334P |
probably damaging |
Het |
| Septin3 |
A |
T |
15: 82,163,739 (GRCm39) |
D32V |
probably damaging |
Het |
| Sftpa1 |
G |
T |
14: 40,854,417 (GRCm39) |
M1I |
probably null |
Het |
| Slc15a2 |
G |
A |
16: 36,574,080 (GRCm39) |
T591I |
probably benign |
Het |
| Slc18a2 |
C |
T |
19: 59,262,791 (GRCm39) |
T252I |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,694,071 (GRCm39) |
F1225L |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,078,561 (GRCm39) |
G454S |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,286,767 (GRCm39) |
S242P |
possibly damaging |
Het |
| Tcaim |
C |
A |
9: 122,647,928 (GRCm39) |
H148N |
probably damaging |
Het |
| Tgfbr3l |
T |
C |
8: 4,299,640 (GRCm39) |
V141A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,330,735 (GRCm39) |
D711G |
probably damaging |
Het |
| Trim45 |
A |
T |
3: 100,832,319 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,904,843 (GRCm39) |
R803H |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,442 (GRCm39) |
M752K |
probably damaging |
Het |
| Wdr35 |
G |
A |
12: 9,071,826 (GRCm39) |
V893I |
probably benign |
Het |
| Zdhhc7 |
G |
T |
8: 120,814,494 (GRCm39) |
P105Q |
probably damaging |
Het |
| Zfp316 |
A |
G |
5: 143,250,046 (GRCm39) |
|
probably null |
Het |
| Zfp454 |
G |
C |
11: 50,764,537 (GRCm39) |
N298K |
possibly damaging |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
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 |
|
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 |
|
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'- ACATTAGGAACTATGTGGTGGTCTG -3'
(R):5'- CTCAGATGTGGGAATCCTCAGAG -3'
Sequencing Primer
(F):5'- AACTATGTGGTGGTCTGGTTCTCC -3'
(R):5'- GGAATCCTCAGAGGTTCTATATCGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation