Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01483:Pde4dip'

88684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde4dip

Ensembl Gene

ENSMUSG00000038170

Gene Name

phosphodiesterase 4D interacting protein (myomegalin)

Synonyms

Usmg4, D3Bwg1078e, D130016K21Rik, 9430063L05Rik, 4732458A06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01483

Quality Score

Status

Chromosome

Chromosomal Location

97597144-97796023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97661465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 594 (S594P)

Ref Sequence

ENSEMBL: ENSMUSP00000102653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045243] [ENSMUST00000090750] [ENSMUST00000107038] [ENSMUST00000168438] [ENSMUST00000175751]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045243
AA Change: S691P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040905
Gene: ENSMUSG00000038170
AA Change: S691P

Domain	Start	End	E-Value	Type
low complexity region	72	90	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
coiled coil region	399	451	N/A	INTRINSIC
SCOP:d1gw5a_	613	839	3e-3	SMART
coiled coil region	909	985	N/A	INTRINSIC
low complexity region	1081	1099	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090750
AA Change: S648P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: S648P

Domain	Start	End	E-Value	Type
low complexity region	10	40	N/A	INTRINSIC
low complexity region	45	57	N/A	INTRINSIC
Pfam:Cnn_1N	124	196	3.2e-26	PFAM
low complexity region	204	219	N/A	INTRINSIC
coiled coil region	282	325	N/A	INTRINSIC
internal_repeat_1	397	438	4.03e-5	PROSPERO
low complexity region	567	578	N/A	INTRINSIC
internal_repeat_2	617	667	6.59e-5	PROSPERO
internal_repeat_1	620	661	4.03e-5	PROSPERO
coiled coil region	866	942	N/A	INTRINSIC
low complexity region	1038	1056	N/A	INTRINSIC
low complexity region	1067	1082	N/A	INTRINSIC
coiled coil region	1118	1163	N/A	INTRINSIC
coiled coil region	1336	1363	N/A	INTRINSIC
low complexity region	1403	1420	N/A	INTRINSIC
coiled coil region	1470	1508	N/A	INTRINSIC
internal_repeat_2	1597	1644	6.59e-5	PROSPERO
DUF1220	1680	1747	1.17e-17	SMART
low complexity region	1758	1780	N/A	INTRINSIC
low complexity region	1836	1851	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
low complexity region	1940	1951	N/A	INTRINSIC
coiled coil region	1962	2138	N/A	INTRINSIC
coiled coil region	2162	2197	N/A	INTRINSIC
coiled coil region	2387	2431	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107038
AA Change: S594P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102653
Gene: ENSMUSG00000038170
AA Change: S594P

Domain	Start	End	E-Value	Type
Pfam:Microtub_assoc	70	144	7.8e-32	PFAM
low complexity region	150	165	N/A	INTRINSIC
coiled coil region	228	271	N/A	INTRINSIC
internal_repeat_1	343	384	5.54e-5	PROSPERO
low complexity region	513	524	N/A	INTRINSIC
internal_repeat_1	566	607	5.54e-5	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000168438
AA Change: S648P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: S648P

Domain	Start	End	E-Value	Type
low complexity region	10	40	N/A	INTRINSIC
low complexity region	45	57	N/A	INTRINSIC
Pfam:Microtub_assoc	124	198	1.4e-31	PFAM
low complexity region	204	219	N/A	INTRINSIC
coiled coil region	282	325	N/A	INTRINSIC
internal_repeat_1	397	438	3.56e-5	PROSPERO
low complexity region	567	578	N/A	INTRINSIC
internal_repeat_2	617	667	5.83e-5	PROSPERO
internal_repeat_1	620	661	3.56e-5	PROSPERO
coiled coil region	866	942	N/A	INTRINSIC
low complexity region	1038	1056	N/A	INTRINSIC
low complexity region	1067	1082	N/A	INTRINSIC
coiled coil region	1118	1163	N/A	INTRINSIC
coiled coil region	1336	1363	N/A	INTRINSIC
low complexity region	1403	1420	N/A	INTRINSIC
coiled coil region	1470	1508	N/A	INTRINSIC
internal_repeat_2	1597	1644	5.83e-5	PROSPERO
DUF1220	1680	1747	1.17e-17	SMART
low complexity region	1758	1769	N/A	INTRINSIC
low complexity region	1785	1800	N/A	INTRINSIC
low complexity region	1809	1823	N/A	INTRINSIC
low complexity region	1889	1900	N/A	INTRINSIC
coiled coil region	1911	2087	N/A	INTRINSIC
coiled coil region	2111	2146	N/A	INTRINSIC
coiled coil region	2336	2380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175751

SMART Domains

Protein: ENSMUSP00000134832
Gene: ENSMUSG00000038170

Domain	Start	End	E-Value	Type
Pfam:zf-AD	4	78	4.3e-8	PFAM
low complexity region	159	170	N/A	INTRINSIC
coiled coil region	399	451	N/A	INTRINSIC
coiled coil region	513	538	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit partial (in utero or perinatal) lethality, hyperactivity, and increased vertical activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	G	T	16: 90,351,201 (GRCm39)		noncoding transcript	Het
Abcb4	T	C	5: 8,977,871 (GRCm39)	I483T	probably damaging	Het
Ank3	A	T	10: 69,710,639 (GRCm39)	H388L	probably damaging	Het
Arhgap24	T	C	5: 103,008,243 (GRCm39)	Y52H	possibly damaging	Het
Atf7ip	A	G	6: 136,564,457 (GRCm39)	N900S	probably damaging	Het
Bmp10	A	T	6: 87,410,933 (GRCm39)	D242V	probably damaging	Het
Ceacam12	A	G	7: 17,801,446 (GRCm39)	R142G	probably benign	Het
Cilp2	T	A	8: 70,335,496 (GRCm39)	I501F	probably damaging	Het
Cplane1	T	G	15: 8,216,591 (GRCm39)	I603S	probably damaging	Het
Dglucy	T	C	12: 100,819,476 (GRCm39)	V426A	probably damaging	Het
Dyrk1b	A	G	7: 27,882,101 (GRCm39)	D94G	probably damaging	Het
Efcab3	T	C	11: 104,630,173 (GRCm39)	V968A	probably benign	Het
Erbb2	C	T	11: 98,325,365 (GRCm39)	R898C	probably damaging	Het
Fbxo7	T	C	10: 85,880,445 (GRCm39)	Y298H	probably damaging	Het
Gcg	T	C	2: 62,310,827 (GRCm39)	D25G	possibly damaging	Het
Helb	A	G	10: 119,947,043 (GRCm39)	V90A	probably damaging	Het
Krt40	T	A	11: 99,433,553 (GRCm39)	E144D	probably damaging	Het
Lpo	G	A	11: 87,711,964 (GRCm39)	T31I	probably benign	Het
Mc5r	A	G	18: 68,472,315 (GRCm39)	I225V	probably damaging	Het
Mccc1	A	G	3: 36,044,009 (GRCm39)	F245L	probably damaging	Het
Mindy4	A	G	6: 55,193,670 (GRCm39)	D121G	probably damaging	Het
Nap1l4	A	T	7: 143,081,053 (GRCm39)		probably null	Het
Noc4l	T	A	5: 110,796,824 (GRCm39)	K486M	probably damaging	Het
Notum	T	C	11: 120,547,482 (GRCm39)	D271G	probably damaging	Het
Pan3	T	A	5: 147,466,783 (GRCm39)	L550Q	probably benign	Het
Pramel12	A	T	4: 143,144,047 (GRCm39)	E131V	probably damaging	Het
Prr23a1	T	G	9: 98,725,369 (GRCm39)	S244A	probably benign	Het
Rarb	T	C	14: 16,432,273 (GRCm38)		probably benign	Het
Sh3d19	A	G	3: 86,022,103 (GRCm39)	D511G	probably benign	Het
Slco6c1	T	C	1: 97,055,832 (GRCm39)	N23S	probably benign	Het
Smarcc1	G	T	9: 110,051,128 (GRCm39)	G983*	probably null	Het
Tbc1d22a	A	T	15: 86,275,404 (GRCm39)	Q442L	probably benign	Het
Tuba1b	A	G	15: 98,830,338 (GRCm39)	Y161H	possibly damaging	Het
Zdhhc14	G	A	17: 5,762,733 (GRCm39)	M212I	probably benign	Het

Other mutations in Pde4dip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Pde4dip	APN	3	97,674,593 (GRCm39)	missense	probably benign	0.00
IGL00543:Pde4dip	APN	3	97,664,940 (GRCm39)	missense	possibly damaging	0.91
IGL00979:Pde4dip	APN	3	97,655,074 (GRCm39)	splice site	probably benign
IGL02122:Pde4dip	APN	3	97,674,737 (GRCm39)	missense	probably damaging	1.00
IGL02398:Pde4dip	APN	3	97,674,097 (GRCm39)	missense	probably benign
IGL02814:Pde4dip	APN	3	97,674,416 (GRCm39)	missense	probably damaging	1.00
IGL02826:Pde4dip	APN	3	97,674,403 (GRCm39)	missense	probably damaging	1.00
D3080:Pde4dip	UTSW	3	97,674,146 (GRCm39)	missense	probably damaging	1.00
R0077:Pde4dip	UTSW	3	97,660,442 (GRCm39)	nonsense	probably null
R0096:Pde4dip	UTSW	3	97,674,783 (GRCm39)	missense	probably damaging	0.99
R0277:Pde4dip	UTSW	3	97,751,028 (GRCm39)	missense	probably benign	0.01
R0304:Pde4dip	UTSW	3	97,751,028 (GRCm39)	missense	probably benign	0.01
R0616:Pde4dip	UTSW	3	97,654,849 (GRCm39)	missense	probably benign	0.09
R0676:Pde4dip	UTSW	3	97,624,413 (GRCm39)	splice site	probably benign
R1166:Pde4dip	UTSW	3	97,620,512 (GRCm39)	missense	possibly damaging	0.94
R1376:Pde4dip	UTSW	3	97,650,533 (GRCm39)	missense	probably damaging	0.99
R1376:Pde4dip	UTSW	3	97,650,533 (GRCm39)	missense	probably damaging	0.99
R1452:Pde4dip	UTSW	3	97,631,418 (GRCm39)	missense	probably damaging	1.00
R1550:Pde4dip	UTSW	3	97,627,020 (GRCm39)	missense	probably damaging	1.00
R1700:Pde4dip	UTSW	3	97,610,639 (GRCm39)	missense	probably benign	0.00
R1704:Pde4dip	UTSW	3	97,661,576 (GRCm39)	missense	probably benign	0.28
R1769:Pde4dip	UTSW	3	97,603,246 (GRCm39)	missense	probably benign	0.00
R1934:Pde4dip	UTSW	3	97,600,007 (GRCm39)	missense	possibly damaging	0.74
R1980:Pde4dip	UTSW	3	97,664,312 (GRCm39)	missense	possibly damaging	0.93
R2088:Pde4dip	UTSW	3	97,661,749 (GRCm39)	missense	probably null	1.00
R2143:Pde4dip	UTSW	3	97,795,835 (GRCm39)	missense	possibly damaging	0.86
R2149:Pde4dip	UTSW	3	97,700,152 (GRCm39)	missense	possibly damaging	0.64
R2156:Pde4dip	UTSW	3	97,631,534 (GRCm39)	missense	probably damaging	0.98
R2158:Pde4dip	UTSW	3	97,664,937 (GRCm39)	missense	probably benign	0.15
R2240:Pde4dip	UTSW	3	97,631,480 (GRCm39)	missense	probably benign	0.00
R2249:Pde4dip	UTSW	3	97,700,841 (GRCm39)	missense	probably damaging	1.00
R2256:Pde4dip	UTSW	3	97,625,500 (GRCm39)	missense	probably damaging	1.00
R2680:Pde4dip	UTSW	3	97,608,933 (GRCm39)	missense	possibly damaging	0.92
R2921:Pde4dip	UTSW	3	97,626,885 (GRCm39)	missense	probably benign
R3407:Pde4dip	UTSW	3	97,661,784 (GRCm39)	missense	probably damaging	1.00
R3736:Pde4dip	UTSW	3	97,631,427 (GRCm39)	missense	probably damaging	1.00
R3787:Pde4dip	UTSW	3	97,622,868 (GRCm39)	missense	possibly damaging	0.80
R3883:Pde4dip	UTSW	3	97,620,504 (GRCm39)	missense	probably damaging	1.00
R4437:Pde4dip	UTSW	3	97,673,885 (GRCm39)	missense	possibly damaging	0.52
R4528:Pde4dip	UTSW	3	97,624,338 (GRCm39)	missense	probably damaging	1.00
R4576:Pde4dip	UTSW	3	97,661,565 (GRCm39)	missense	probably damaging	1.00
R4600:Pde4dip	UTSW	3	97,603,260 (GRCm39)	missense	probably damaging	0.98
R4653:Pde4dip	UTSW	3	97,674,654 (GRCm39)	missense	probably damaging	0.99
R4678:Pde4dip	UTSW	3	97,602,321 (GRCm39)	missense	probably damaging	1.00
R4679:Pde4dip	UTSW	3	97,602,321 (GRCm39)	missense	probably damaging	1.00
R4688:Pde4dip	UTSW	3	97,750,993 (GRCm39)	nonsense	probably null
R4770:Pde4dip	UTSW	3	97,674,400 (GRCm39)	missense	probably damaging	1.00
R4841:Pde4dip	UTSW	3	97,700,844 (GRCm39)	missense	probably damaging	1.00
R4842:Pde4dip	UTSW	3	97,700,844 (GRCm39)	missense	probably damaging	1.00
R4899:Pde4dip	UTSW	3	97,616,874 (GRCm39)	missense	probably damaging	1.00
R4914:Pde4dip	UTSW	3	97,622,644 (GRCm39)	missense	probably benign	0.10
R4943:Pde4dip	UTSW	3	97,662,827 (GRCm39)	missense	probably damaging	0.99
R5131:Pde4dip	UTSW	3	97,616,830 (GRCm39)	missense	probably damaging	0.98
R5408:Pde4dip	UTSW	3	97,704,052 (GRCm39)	missense	probably benign	0.35
R5583:Pde4dip	UTSW	3	97,654,892 (GRCm39)	missense	possibly damaging	0.67
R5677:Pde4dip	UTSW	3	97,748,964 (GRCm39)	nonsense	probably null
R5689:Pde4dip	UTSW	3	97,599,683 (GRCm39)	nonsense	probably null
R5696:Pde4dip	UTSW	3	97,616,806 (GRCm39)	missense	probably damaging	1.00
R5860:Pde4dip	UTSW	3	97,631,504 (GRCm39)	missense	possibly damaging	0.68
R6279:Pde4dip	UTSW	3	97,606,496 (GRCm39)	missense	probably damaging	1.00
R6341:Pde4dip	UTSW	3	97,602,227 (GRCm39)	missense	probably benign
R6440:Pde4dip	UTSW	3	97,674,902 (GRCm39)	missense	probably damaging	1.00
R6464:Pde4dip	UTSW	3	97,617,660 (GRCm39)	missense	probably damaging	1.00
R6489:Pde4dip	UTSW	3	97,662,907 (GRCm39)	nonsense	probably null
R6706:Pde4dip	UTSW	3	97,648,709 (GRCm39)	missense	probably damaging	1.00
R6722:Pde4dip	UTSW	3	97,625,555 (GRCm39)	nonsense	probably null
R6798:Pde4dip	UTSW	3	97,795,850 (GRCm39)	missense	probably benign
R6804:Pde4dip	UTSW	3	97,700,564 (GRCm39)	nonsense	probably null
R6862:Pde4dip	UTSW	3	97,674,340 (GRCm39)	missense	possibly damaging	0.52
R6957:Pde4dip	UTSW	3	97,731,649 (GRCm39)	splice site	probably null
R6983:Pde4dip	UTSW	3	97,625,552 (GRCm39)	missense	probably damaging	1.00
R7014:Pde4dip	UTSW	3	97,622,738 (GRCm39)	missense	possibly damaging	0.54
R7025:Pde4dip	UTSW	3	97,631,499 (GRCm39)	nonsense	probably null
R7136:Pde4dip	UTSW	3	97,601,379 (GRCm39)	missense	probably benign	0.03
R7178:Pde4dip	UTSW	3	97,622,946 (GRCm39)	missense	probably benign	0.26
R7269:Pde4dip	UTSW	3	97,674,275 (GRCm39)	missense	probably damaging	1.00
R7283:Pde4dip	UTSW	3	97,666,198 (GRCm39)	missense	probably benign	0.03
R7354:Pde4dip	UTSW	3	97,626,646 (GRCm39)	missense	probably damaging	0.99
R7357:Pde4dip	UTSW	3	97,622,857 (GRCm39)	missense	probably benign	0.01
R7360:Pde4dip	UTSW	3	97,625,632 (GRCm39)	missense	probably benign	0.01
R7371:Pde4dip	UTSW	3	97,664,587 (GRCm39)	missense	probably benign	0.08
R7432:Pde4dip	UTSW	3	97,602,408 (GRCm39)	missense	probably benign
R7536:Pde4dip	UTSW	3	97,664,560 (GRCm39)	missense	probably damaging	1.00
R7542:Pde4dip	UTSW	3	97,673,971 (GRCm39)	missense	possibly damaging	0.59
R7609:Pde4dip	UTSW	3	97,622,881 (GRCm39)	missense	possibly damaging	0.85
R7650:Pde4dip	UTSW	3	97,606,423 (GRCm39)	critical splice donor site	probably null
R7800:Pde4dip	UTSW	3	97,622,599 (GRCm39)	missense	probably damaging	1.00
R7846:Pde4dip	UTSW	3	97,622,490 (GRCm39)	missense	probably damaging	1.00
R7918:Pde4dip	UTSW	3	97,622,539 (GRCm39)	nonsense	probably null
R8120:Pde4dip	UTSW	3	97,614,254 (GRCm39)	missense	probably null	0.94
R8139:Pde4dip	UTSW	3	97,604,309 (GRCm39)	missense	probably benign	0.02
R8144:Pde4dip	UTSW	3	97,622,742 (GRCm39)	missense	probably damaging	1.00
R8177:Pde4dip	UTSW	3	97,674,848 (GRCm39)	missense	probably damaging	0.98
R8294:Pde4dip	UTSW	3	97,674,694 (GRCm39)	missense	probably damaging	1.00
R8406:Pde4dip	UTSW	3	97,606,428 (GRCm39)	missense	probably benign	0.04
R8911:Pde4dip	UTSW	3	97,650,917 (GRCm39)	missense	probably benign	0.22
R8912:Pde4dip	UTSW	3	97,617,633 (GRCm39)	missense	probably damaging	1.00
R8960:Pde4dip	UTSW	3	97,700,464 (GRCm39)	missense	probably damaging	1.00
R8993:Pde4dip	UTSW	3	97,673,810 (GRCm39)	missense	probably damaging	1.00
R9031:Pde4dip	UTSW	3	97,599,675 (GRCm39)	missense	probably damaging	1.00
R9032:Pde4dip	UTSW	3	97,601,385 (GRCm39)	missense	probably benign	0.00
R9085:Pde4dip	UTSW	3	97,601,385 (GRCm39)	missense	probably benign	0.00
R9103:Pde4dip	UTSW	3	97,749,044 (GRCm39)	missense	probably damaging	1.00
R9163:Pde4dip	UTSW	3	97,659,123 (GRCm39)	critical splice donor site	probably null
R9182:Pde4dip	UTSW	3	97,602,314 (GRCm39)	missense	probably benign	0.13
R9185:Pde4dip	UTSW	3	97,666,132 (GRCm39)	missense	probably benign	0.01
R9286:Pde4dip	UTSW	3	97,607,183 (GRCm39)	missense	probably damaging	1.00
R9357:Pde4dip	UTSW	3	97,625,645 (GRCm39)	missense	probably benign	0.00
R9415:Pde4dip	UTSW	3	97,660,468 (GRCm39)	missense	possibly damaging	0.82
R9500:Pde4dip	UTSW	3	97,795,896 (GRCm39)	missense	unknown
R9595:Pde4dip	UTSW	3	97,602,207 (GRCm39)	critical splice donor site	probably null
R9689:Pde4dip	UTSW	3	97,649,841 (GRCm39)	missense	probably damaging	1.00
R9720:Pde4dip	UTSW	3	97,603,287 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18