Mutagenetix > Incidental Mutation

Incidental Mutation 'R0676:Pde4dip'

61646

Institutional Source

Beutler Lab

Gene Symbol

Pde4dip

Ensembl Gene

ENSMUSG00000038170

Gene Name

phosphodiesterase 4D interacting protein (myomegalin)

Synonyms

Usmg4, D3Bwg1078e, D130016K21Rik, 9430063L05Rik, 4732458A06Rik

MMRRC Submission

038861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0676 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

97597144-97796023 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 97624413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131170 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: 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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (52/52)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,516 (GRCm39)		probably benign	Het
Arhgef25	A	G	10: 127,019,879 (GRCm39)		probably null	Het
B3galnt2	T	C	13: 14,170,378 (GRCm39)	S243P	probably benign	Het
Col11a2	A	G	17: 34,276,249 (GRCm39)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Crot	A	C	5: 9,043,622 (GRCm39)		probably benign	Het
Ctnna3	A	C	10: 64,245,040 (GRCm39)	H451P	probably benign	Het
Cts6	C	T	13: 61,345,298 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,586,063 (GRCm39)	T540A	probably damaging	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Gabrg3	A	T	7: 56,374,169 (GRCm39)	Y466N	probably damaging	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H2-M5	A	G	17: 37,300,034 (GRCm39)	F47L	possibly damaging	Het
H4c9	T	C	13: 22,225,276 (GRCm39)		probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Klb	A	T	5: 65,536,398 (GRCm39)	D576V	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Lrrk1	C	T	7: 65,944,729 (GRCm39)	R627H	probably damaging	Het
Luzp1	A	G	4: 136,269,996 (GRCm39)	K740E	probably damaging	Het
Mapk9	T	C	11: 49,773,983 (GRCm39)	*382Q	probably null	Het
Mn1	A	G	5: 111,568,900 (GRCm39)	S957G	possibly damaging	Het
Mrgprb8	A	T	7: 48,038,412 (GRCm39)	M28L	probably benign	Het
Myo1a	A	G	10: 127,555,749 (GRCm39)	I913V	probably benign	Het
Nolc1	T	A	19: 46,068,528 (GRCm39)		probably benign	Het
Rbpj	C	T	5: 53,803,390 (GRCm39)		probably benign	Het
Ric1	T	C	19: 29,555,047 (GRCm39)	I387T	probably benign	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Scarb1	C	A	5: 125,374,278 (GRCm39)		probably benign	Het
Sh3tc1	A	T	5: 35,876,458 (GRCm39)		probably benign	Het
Slc22a23	G	A	13: 34,379,462 (GRCm39)	T435I	probably damaging	Het
Slc22a26	A	T	19: 7,773,509 (GRCm39)		probably benign	Het
Taf6l	T	C	19: 8,750,733 (GRCm39)	I114V	probably benign	Het
Tbc1d8b	A	G	X: 138,613,025 (GRCm39)	S284G	possibly damaging	Het
Tmem131l	C	T	3: 83,842,122 (GRCm39)		probably benign	Het
Vmn2r115	C	T	17: 23,565,238 (GRCm39)	S375F	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTCCAAACGCAGCGCATGACTC -3'
(R):5'- TCACAGAGACACTGGGCACATGAAC -3'

Sequencing Primer
(F):5'- TCTGGGGAGAGAAGGTGGC -3'
(R):5'- GTTTTCAGAAGAGAACCTCTCCG -3'

Posted On

2013-07-30