Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Pde4dip'

272297

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

040754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97597144-97796023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97622868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1447 (P1447Q)

Ref Sequence

ENSEMBL: ENSMUSP00000088254 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090750
AA Change: P1447Q

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: P1447Q

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

possibly damaging
Transcript: ENSMUST00000168438
AA Change: P1447Q

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: P1447Q

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: 97.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	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
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'- TAGTCGCTTGTGGCAGACAG -3'
(R):5'- CCTAAAGGAAGCACTGCTCTG -3'

Sequencing Primer
(F):5'- TTGTGGCAGACAGGGACC -3'
(R):5'- CAGTACTTAGTCCTGTGGCCAG -3'

Posted On

2015-03-25