Mutagenetix > Incidental Mutation

Incidental Mutation 'R5131:Pde4dip'

394991

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

042719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97597144-97796023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97616830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1804 (N1804I)

Ref Sequence

ENSEMBL: ENSMUSP00000088254 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090750
AA Change: N1804I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: N1804I

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	T	4: 40,163,797 (GRCm39)	P17S	probably benign	Het
Arhgap35	A	G	7: 16,245,112 (GRCm39)		probably null	Het
Brd3	A	T	2: 27,343,427 (GRCm39)	N480K	probably benign	Het
Ccnk	T	C	12: 108,168,890 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh1	T	C	8: 107,390,430 (GRCm39)	V590A	possibly damaging	Het
Cert1	A	G	13: 96,751,343 (GRCm39)	D331G	probably damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Cmklr2	T	A	1: 63,222,840 (GRCm39)	S132C	probably damaging	Het
Cyp4a12a	T	A	4: 115,185,017 (GRCm39)	D399E	possibly damaging	Het
Dnah11	A	C	12: 117,918,486 (GRCm39)	Y3482D	probably damaging	Het
Gtf3c3	A	T	1: 54,458,657 (GRCm39)		probably null	Het
Gzmk	G	T	13: 113,310,482 (GRCm39)	A73E	probably benign	Het
Hnrnpul1	A	G	7: 25,426,219 (GRCm39)	V444A	probably benign	Het
Lgr4	T	C	2: 109,842,678 (GRCm39)	S864P	probably benign	Het
Lrp2	A	T	2: 69,260,686 (GRCm39)	V4515E	possibly damaging	Het
Map3k19	A	T	1: 127,751,427 (GRCm39)	N641K	possibly damaging	Het
Mesp2	A	G	7: 79,461,475 (GRCm39)	T267A	possibly damaging	Het
Mipep	T	C	14: 61,140,823 (GRCm39)	L682P	probably damaging	Het
Nalcn	G	T	14: 123,753,182 (GRCm39)	T268K	probably damaging	Het
Ncam2	T	C	16: 81,234,550 (GRCm39)	V135A	probably benign	Het
Ndufaf6	G	T	4: 11,060,931 (GRCm39)	T215K	probably damaging	Het
Nr1h4	T	C	10: 89,319,317 (GRCm39)	D183G	probably damaging	Het
Pate9	C	T	9: 36,446,242 (GRCm39)	A57T	possibly damaging	Het
Pax2	G	T	19: 44,749,394 (GRCm39)	V41L	probably damaging	Het
Phtf2	A	T	5: 20,979,050 (GRCm39)	V526E	probably damaging	Het
Ppp1ca	G	A	19: 4,244,895 (GRCm39)	C291Y	probably damaging	Het
Prag1	G	T	8: 36,607,123 (GRCm39)	G955C	probably damaging	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rnf181	G	A	6: 72,337,811 (GRCm39)		probably null	Het
Rsbn1l	G	A	5: 21,101,243 (GRCm39)	R766C	possibly damaging	Het
Rusc2	C	T	4: 43,414,948 (GRCm39)	P85S	probably benign	Het
Rxfp1	T	C	3: 79,559,471 (GRCm39)		probably null	Het
Serpinb6a	T	A	13: 34,102,855 (GRCm39)	M202L	probably benign	Het
Snd1	T	C	6: 28,885,049 (GRCm39)	F800S	probably damaging	Het
Tbc1d2b	G	A	9: 90,091,812 (GRCm39)	T830I	probably damaging	Het
Tmem209	A	T	6: 30,497,166 (GRCm39)	N183K	probably benign	Het
Tmtc3	T	C	10: 100,284,841 (GRCm39)	D598G	probably damaging	Het
Ube3b	A	G	5: 114,545,607 (GRCm39)	D622G	probably damaging	Het
Zbtb43	A	T	2: 33,344,778 (GRCm39)	M112K	probably damaging	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
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
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'- AAAGGCCTCCTGATTTGGG -3'
(R):5'- AATAGGTCCTTGTCCCTGGG -3'

Sequencing Primer
(F):5'- GTAGGACATGATAGATTCTGGCTTCC -3'
(R):5'- ATGATACAAGGCCTGGGTTCC -3'

Posted On

2016-06-21