Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03406:Pde4d'

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) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

108449948-109953461 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 109954591 bp

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]

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	unclassified	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	synonymous	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
R7944:Pde4d	UTSW	13	109935324	missense	probably damaging	0.99

Posted On

2016-08-02