Incidental Mutation 'IGL03406:Pde4d'
ID |
421597 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
dunce, Dpde3, 9630011N22Rik |
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03406
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
108449948-109953461 bp(+) (GRCm38) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 109954591 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136485
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074103]
[ENSMUST00000079975]
[ENSMUST00000117420]
[ENSMUST00000117879]
[ENSMUST00000119507]
[ENSMUST00000119672]
[ENSMUST00000120664]
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
AlphaFold |
Q01063 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074103
|
SMART Domains |
Protein: ENSMUSP00000073742 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
HDc
|
329 |
504 |
1.12e-2 |
SMART |
low complexity region
|
652 |
667 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079975
|
SMART Domains |
Protein: ENSMUSP00000078891 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
349 |
524 |
1.12e-2 |
SMART |
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117420
|
SMART Domains |
Protein: ENSMUSP00000113610 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
168 |
343 |
1.12e-2 |
SMART |
low complexity region
|
491 |
506 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117879
|
SMART Domains |
Protein: ENSMUSP00000112774 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
155 |
330 |
1.12e-2 |
SMART |
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119507
|
SMART Domains |
Protein: ENSMUSP00000114089 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
354 |
529 |
1.12e-2 |
SMART |
low complexity region
|
677 |
692 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119672
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120664
|
SMART Domains |
Protein: ENSMUSP00000113024 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
235 |
410 |
1.12e-2 |
SMART |
low complexity region
|
558 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120671
|
SMART Domains |
Protein: ENSMUSP00000112991 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
84 |
N/A |
INTRINSIC |
HDc
|
454 |
629 |
1.12e-2 |
SMART |
low complexity region
|
777 |
792 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122041
|
SMART Domains |
Protein: ENSMUSP00000113488 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
398 |
573 |
1.12e-2 |
SMART |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135275
|
SMART Domains |
Protein: ENSMUSP00000119583 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
HDc
|
351 |
526 |
1.12e-2 |
SMART |
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153234
|
SMART Domains |
Protein: ENSMUSP00000121592 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
PDB:1E9K|A
|
22 |
59 |
9e-18 |
PDB |
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
HDc
|
405 |
580 |
1.12e-2 |
SMART |
low complexity region
|
728 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177907
|
SMART Domains |
Protein: ENSMUSP00000136485 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
398 |
573 |
1.12e-2 |
SMART |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012P22Rik |
A |
G |
4: 144,423,844 |
Y56H |
probably damaging |
Het |
A530016L24Rik |
T |
A |
12: 112,496,883 |
|
probably null |
Het |
Adcy7 |
C |
T |
8: 88,318,319 |
R228* |
probably null |
Het |
Cdcp1 |
T |
C |
9: 123,185,313 |
H132R |
probably benign |
Het |
Cyp4a32 |
T |
C |
4: 115,602,303 |
I78T |
probably benign |
Het |
Fap |
A |
T |
2: 62,542,122 |
|
probably benign |
Het |
Gad1-ps |
C |
T |
10: 99,444,779 |
|
noncoding transcript |
Het |
Gli3 |
T |
C |
13: 15,648,581 |
I296T |
probably damaging |
Het |
H2-Q2 |
T |
C |
17: 35,342,825 |
V97A |
probably benign |
Het |
Hr |
T |
A |
14: 70,563,420 |
|
probably null |
Het |
Itgax |
C |
T |
7: 128,149,198 |
T1133I |
possibly damaging |
Het |
L3mbtl2 |
G |
A |
15: 81,681,993 |
R339H |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,737,107 |
K1726E |
possibly damaging |
Het |
Nlrc5 |
T |
C |
8: 94,476,855 |
Y528H |
probably benign |
Het |
Nmnat3 |
G |
A |
9: 98,399,477 |
G44D |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,661,568 |
D366V |
probably damaging |
Het |
Olfr539 |
C |
A |
7: 140,667,511 |
L68M |
probably damaging |
Het |
Ptpn22 |
C |
A |
3: 103,912,016 |
N795K |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,722,169 |
V289D |
probably damaging |
Het |
Slc50a1 |
T |
C |
3: 89,270,101 |
D40G |
possibly damaging |
Het |
Slco6b1 |
T |
C |
1: 96,947,585 |
|
noncoding transcript |
Het |
Smarcad1 |
T |
A |
6: 65,092,526 |
F530Y |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,742,873 |
|
probably benign |
Het |
Supt16 |
A |
T |
14: 52,178,141 |
I379N |
possibly damaging |
Het |
Tmem154 |
A |
G |
3: 84,684,260 |
N39S |
probably benign |
Het |
Ubash3b |
T |
A |
9: 41,037,479 |
Y180F |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,639,295 |
D921E |
possibly damaging |
Het |
Zdhhc20 |
T |
C |
14: 57,839,099 |
T366A |
probably benign |
Het |
Zfp456 |
A |
T |
13: 67,366,331 |
C419S |
probably damaging |
Het |
Zfp69 |
T |
C |
4: 120,931,084 |
T345A |
probably benign |
Het |
|
Other mutations in Pde4d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Pde4d
|
APN |
13 |
109936687 |
missense |
possibly damaging |
0.69 |
IGL00792:Pde4d
|
APN |
13 |
109935395 |
missense |
possibly damaging |
0.85 |
IGL01014:Pde4d
|
APN |
13 |
109949502 |
missense |
probably damaging |
1.00 |
IGL01660:Pde4d
|
APN |
13 |
109938072 |
missense |
probably damaging |
1.00 |
IGL02233:Pde4d
|
APN |
13 |
109740550 |
missense |
probably damaging |
1.00 |
IGL02405:Pde4d
|
APN |
13 |
108860209 |
critical splice donor site |
probably null |
|
IGL02544:Pde4d
|
APN |
13 |
109740523 |
missense |
probably damaging |
1.00 |
IGL02885:Pde4d
|
APN |
13 |
109948261 |
missense |
probably damaging |
1.00 |
IGL03286:Pde4d
|
APN |
13 |
109954506 |
unclassified |
probably benign |
|
Heliosphere
|
UTSW |
13 |
109116942 |
missense |
probably benign |
|
Stubbs
|
UTSW |
13 |
109772722 |
intron |
probably benign |
|
IGL03055:Pde4d
|
UTSW |
13 |
109935345 |
missense |
probably damaging |
1.00 |
R0020:Pde4d
|
UTSW |
13 |
109954570 |
missense |
possibly damaging |
0.66 |
R0020:Pde4d
|
UTSW |
13 |
109954570 |
missense |
possibly damaging |
0.66 |
R0054:Pde4d
|
UTSW |
13 |
109740421 |
missense |
probably benign |
0.23 |
R0054:Pde4d
|
UTSW |
13 |
109740421 |
missense |
probably benign |
0.23 |
R0357:Pde4d
|
UTSW |
13 |
109951268 |
missense |
possibly damaging |
0.46 |
R0482:Pde4d
|
UTSW |
13 |
109936710 |
missense |
probably benign |
0.00 |
R0689:Pde4d
|
UTSW |
13 |
109740544 |
missense |
possibly damaging |
0.78 |
R0884:Pde4d
|
UTSW |
13 |
109950940 |
missense |
probably damaging |
0.99 |
R1169:Pde4d
|
UTSW |
13 |
109950928 |
splice site |
probably null |
|
R1225:Pde4d
|
UTSW |
13 |
109950221 |
missense |
probably benign |
0.04 |
R1246:Pde4d
|
UTSW |
13 |
109950973 |
missense |
probably damaging |
1.00 |
R1344:Pde4d
|
UTSW |
13 |
109950387 |
nonsense |
probably null |
|
R1351:Pde4d
|
UTSW |
13 |
109951275 |
missense |
possibly damaging |
0.46 |
R1371:Pde4d
|
UTSW |
13 |
109117061 |
missense |
probably benign |
0.00 |
R1418:Pde4d
|
UTSW |
13 |
109950387 |
nonsense |
probably null |
|
R2197:Pde4d
|
UTSW |
13 |
109948390 |
missense |
probably damaging |
1.00 |
R2440:Pde4d
|
UTSW |
13 |
109927197 |
intron |
probably benign |
|
R3114:Pde4d
|
UTSW |
13 |
109948258 |
missense |
probably damaging |
1.00 |
R3115:Pde4d
|
UTSW |
13 |
109948258 |
missense |
probably damaging |
1.00 |
R3722:Pde4d
|
UTSW |
13 |
109951332 |
nonsense |
probably null |
|
R3742:Pde4d
|
UTSW |
13 |
109740479 |
missense |
probably benign |
0.42 |
R3797:Pde4d
|
UTSW |
13 |
109632897 |
missense |
probably benign |
0.29 |
R3983:Pde4d
|
UTSW |
13 |
109740406 |
missense |
probably benign |
0.23 |
R4618:Pde4d
|
UTSW |
13 |
109933877 |
missense |
probably benign |
0.13 |
R4768:Pde4d
|
UTSW |
13 |
109933874 |
missense |
probably damaging |
1.00 |
R4795:Pde4d
|
UTSW |
13 |
109938171 |
intron |
probably benign |
|
R4824:Pde4d
|
UTSW |
13 |
109116866 |
missense |
probably benign |
0.00 |
R4942:Pde4d
|
UTSW |
13 |
108860199 |
missense |
probably benign |
0.00 |
R4984:Pde4d
|
UTSW |
13 |
109740464 |
missense |
probably damaging |
1.00 |
R5180:Pde4d
|
UTSW |
13 |
109740473 |
missense |
probably benign |
0.13 |
R5267:Pde4d
|
UTSW |
13 |
109260809 |
intron |
probably benign |
|
R5311:Pde4d
|
UTSW |
13 |
109632864 |
missense |
probably benign |
0.02 |
R5311:Pde4d
|
UTSW |
13 |
109632865 |
missense |
probably benign |
|
R5376:Pde4d
|
UTSW |
13 |
109772644 |
missense |
probably benign |
0.00 |
R5551:Pde4d
|
UTSW |
13 |
109948396 |
critical splice donor site |
probably null |
|
R5753:Pde4d
|
UTSW |
13 |
109772722 |
intron |
probably benign |
|
R5754:Pde4d
|
UTSW |
13 |
109938013 |
missense |
probably damaging |
0.98 |
R5838:Pde4d
|
UTSW |
13 |
109740442 |
missense |
probably damaging |
0.99 |
R5864:Pde4d
|
UTSW |
13 |
109938048 |
missense |
probably benign |
0.00 |
R6039:Pde4d
|
UTSW |
13 |
109948342 |
missense |
probably damaging |
1.00 |
R6039:Pde4d
|
UTSW |
13 |
109948342 |
missense |
probably damaging |
1.00 |
R6049:Pde4d
|
UTSW |
13 |
109032585 |
nonsense |
probably null |
|
R6214:Pde4d
|
UTSW |
13 |
109949433 |
missense |
probably damaging |
1.00 |
R6215:Pde4d
|
UTSW |
13 |
109949433 |
missense |
probably damaging |
1.00 |
R6273:Pde4d
|
UTSW |
13 |
109950221 |
missense |
possibly damaging |
0.94 |
R6431:Pde4d
|
UTSW |
13 |
109601786 |
splice site |
probably null |
|
R6501:Pde4d
|
UTSW |
13 |
109116942 |
missense |
probably benign |
|
R6534:Pde4d
|
UTSW |
13 |
109632901 |
missense |
probably benign |
0.05 |
R6709:Pde4d
|
UTSW |
13 |
109948279 |
missense |
probably damaging |
1.00 |
R6722:Pde4d
|
UTSW |
13 |
109632898 |
nonsense |
probably null |
|
R7164:Pde4d
|
UTSW |
13 |
109032688 |
missense |
probably benign |
|
R7222:Pde4d
|
UTSW |
13 |
109757579 |
missense |
probably damaging |
1.00 |
R7417:Pde4d
|
UTSW |
13 |
109632788 |
splice site |
probably null |
|
R7489:Pde4d
|
UTSW |
13 |
109116767 |
missense |
unknown |
|
R7563:Pde4d
|
UTSW |
13 |
109951007 |
missense |
probably benign |
0.37 |
R7861:Pde4d
|
UTSW |
13 |
109935324 |
missense |
probably damaging |
0.99 |
R8167:Pde4d
|
UTSW |
13 |
109442321 |
missense |
probably benign |
0.00 |
R8197:Pde4d
|
UTSW |
13 |
109948336 |
missense |
probably damaging |
1.00 |
R8469:Pde4d
|
UTSW |
13 |
108860188 |
missense |
probably benign |
|
R8715:Pde4d
|
UTSW |
13 |
109935342 |
missense |
probably benign |
0.29 |
R8926:Pde4d
|
UTSW |
13 |
109938091 |
missense |
probably benign |
0.00 |
R9054:Pde4d
|
UTSW |
13 |
109935390 |
missense |
probably damaging |
0.96 |
R9406:Pde4d
|
UTSW |
13 |
109740530 |
missense |
probably damaging |
0.99 |
R9516:Pde4d
|
UTSW |
13 |
109260662 |
missense |
|
|
R9526:Pde4d
|
UTSW |
13 |
109935381 |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |