Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02398:Pde4dip'

291763

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 #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

97597144-97796023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97674097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 273 (Y273C)

Ref Sequence

ENSEMBL: ENSMUSP00000134832 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045243
AA Change: Y273C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040905
Gene: ENSMUSG00000038170
AA Change: Y273C

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 benign
Transcript: ENSMUST00000090750

SMART Domains

Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170

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 benign
Transcript: ENSMUST00000107038

SMART Domains

Protein: ENSMUSP00000102653
Gene: ENSMUSG00000038170

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 benign
Transcript: ENSMUST00000168438

SMART Domains

Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170

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
AA Change: Y273C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134832
Gene: ENSMUSG00000038170
AA Change: Y273C

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,709,824 (GRCm39)	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870 (GRCm39)	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,397,702 (GRCm39)	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,696 (GRCm39)	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,172,833 (GRCm39)	M231L	probably benign	Het
Cog7	A	G	7: 121,563,432 (GRCm39)	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspg4	A	T	9: 56,793,970 (GRCm39)	E568D	probably benign	Het
Cwc27	G	A	13: 104,940,762 (GRCm39)	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,688,467 (GRCm39)	I330V	probably benign	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dhrs7	G	A	12: 72,711,466 (GRCm39)	R24C	probably damaging	Het
Ehmt2	T	A	17: 35,127,455 (GRCm39)	C838S	probably damaging	Het
Fn1	A	T	1: 71,657,829 (GRCm39)		probably null	Het
Gjb3	T	A	4: 127,219,855 (GRCm39)	S226C	probably benign	Het
Gm14496	A	G	2: 181,637,963 (GRCm39)	I346V	probably benign	Het
Gm8050	T	C	14: 17,930,894 (GRCm39)	E172G	probably damaging	Het
Higd1a	G	A	9: 121,681,590 (GRCm39)	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,678,648 (GRCm39)	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,110,755 (GRCm39)	I161F	probably damaging	Het
Lrp8	G	T	4: 107,704,691 (GRCm39)	V304F	probably damaging	Het
Lrp8	C	A	4: 107,726,245 (GRCm39)	S850R	probably damaging	Het
Lrrc9	A	T	12: 72,513,677 (GRCm39)	M513L	probably benign	Het
Myo18b	A	T	5: 112,978,178 (GRCm39)	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,797,050 (GRCm39)	N945K	probably damaging	Het
Nipbl	A	G	15: 8,356,574 (GRCm39)	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,989,568 (GRCm39)	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or2a56	A	T	6: 42,933,046 (GRCm39)	I205F	probably benign	Het
Or52r1c	G	A	7: 102,735,313 (GRCm39)	C191Y	probably damaging	Het
Or8k22	A	T	2: 86,162,868 (GRCm39)	Y277*	probably null	Het
Parp8	A	G	13: 117,047,399 (GRCm39)		probably null	Het
Pgbd5	C	T	8: 125,111,257 (GRCm39)	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,646,424 (GRCm39)		probably benign	Het
Piezo1	A	T	8: 123,213,302 (GRCm39)	S1819R	probably benign	Het
Polr1a	T	C	6: 71,913,540 (GRCm39)		probably benign	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prlhr	G	T	19: 60,455,753 (GRCm39)	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,905,114 (GRCm39)	S132R	probably damaging	Het
Ros1	T	A	10: 52,020,980 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,677,767 (GRCm39)	D1327G	probably benign	Het
Slit1	A	C	19: 41,590,676 (GRCm39)	V1332G	probably damaging	Het
Spin2h	A	G	X: 32,162,153 (GRCm39)	D224G	probably damaging	Het
Tmem178b	A	G	6: 40,184,461 (GRCm39)	M120V	probably damaging	Het
Trim25	T	C	11: 88,890,630 (GRCm39)	C106R	probably damaging	Het
Trim35	A	G	14: 66,546,697 (GRCm39)	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,840,703 (GRCm39)	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,536 (GRCm39)	I315K	probably benign	Het
Zfp654	A	G	16: 64,606,381 (GRCm39)	V607A	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
IGL01483:Pde4dip	APN	3	97,661,465 (GRCm39)	missense	probably damaging	1.00
IGL02122:Pde4dip	APN	3	97,674,737 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16