Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Dnm1'

342878

Institutional Source

Beutler Lab

Gene Symbol

Dnm1

Ensembl Gene

ENSMUSG00000026825

Gene Name

dynamin 1

Synonyms

dynamin 1, Ftfl

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32308471-32353338 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32336011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 352 (D352G)

Ref Sequence

ENSEMBL: ENSMUSP00000143955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000091089] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000139238] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000201494] [ENSMUST00000202578]

AlphaFold

P39053

Predicted Effect

probably damaging
Transcript: ENSMUST00000078352
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091089
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	516	623	2.7e-10	SMART
GED	650	741	9.51e-32	SMART
low complexity region	743	757	N/A	INTRINSIC
low complexity region	779	812	N/A	INTRINSIC
low complexity region	815	826	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113350
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113352
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113365
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139238

SMART Domains

Protein: ENSMUSP00000118855
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
Pfam:Dynamin_N	34	57	2.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139624
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201433
AA Change: D352G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201494
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	6.9e-180	SMART
Pfam:Dynamin_M	413	473	2.1e-14	PFAM
PH	491	598	1.2e-12	SMART
GED	625	716	6.1e-34	SMART
low complexity region	718	732	N/A	INTRINSIC
low complexity region	754	787	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC
low complexity region	822	832	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202578
AA Change: D352G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: D352G

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Meta Mutation Damage Score

0.2915

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein is a GTPase which is required for membrane recycling, including vesicle endocytosis in neurons. It may also be involved in cellular fission via association with microtubules and actin filaments. Mutations in this gene have been shown to cause seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Dnm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Dnm1	APN	2	32323450	missense	probably benign	0.18
IGL02338:Dnm1	APN	2	32312771	missense	probably damaging	1.00
IGL02555:Dnm1	APN	2	32328038	missense	probably damaging	1.00
IGL02563:Dnm1	APN	2	32315919	splice site	probably null
IGL03006:Dnm1	APN	2	32353121	missense	possibly damaging	0.84
IGL03013:Dnm1	APN	2	32336284	missense	probably benign	0.13
IGL03347:Dnm1	APN	2	32353187	missense	probably benign	0.32
R0180:Dnm1	UTSW	2	32327993	missense	probably damaging	0.99
R0242:Dnm1	UTSW	2	32316989	missense	possibly damaging	0.55
R0242:Dnm1	UTSW	2	32316989	missense	possibly damaging	0.55
R0387:Dnm1	UTSW	2	32320581	missense	possibly damaging	0.90
R0608:Dnm1	UTSW	2	32335824	missense	possibly damaging	0.89
R1230:Dnm1	UTSW	2	32315909	missense	probably damaging	1.00
R1474:Dnm1	UTSW	2	32320584	missense	probably benign	0.31
R1703:Dnm1	UTSW	2	32323451	missense	probably benign	0.01
R1881:Dnm1	UTSW	2	32323730	missense	probably damaging	1.00
R2155:Dnm1	UTSW	2	32314937	missense	probably damaging	0.96
R4405:Dnm1	UTSW	2	32335972	missense	probably damaging	1.00
R5357:Dnm1	UTSW	2	32336241	missense	probably null	0.17
R5926:Dnm1	UTSW	2	32315804	missense	probably benign	0.00
R6135:Dnm1	UTSW	2	32333063	splice site	probably null
R6463:Dnm1	UTSW	2	32309591	utr 3 prime	probably benign
R6563:Dnm1	UTSW	2	32312726	missense	probably damaging	1.00
R6626:Dnm1	UTSW	2	32340880	missense	probably damaging	1.00
R6707:Dnm1	UTSW	2	32336241	missense	probably null	0.17
R6790:Dnm1	UTSW	2	32333067	missense	probably damaging	1.00
R6803:Dnm1	UTSW	2	32312754	missense	probably damaging	1.00
R7156:Dnm1	UTSW	2	32340467	missense	probably damaging	1.00
R7313:Dnm1	UTSW	2	32336009	missense	probably damaging	1.00
R7809:Dnm1	UTSW	2	32353079	missense	probably damaging	1.00
R7919:Dnm1	UTSW	2	32339978	missense	probably damaging	1.00
R8481:Dnm1	UTSW	2	32340478	missense	probably benign	0.01
R8486:Dnm1	UTSW	2	32334727	missense	probably benign	0.14
R8733:Dnm1	UTSW	2	32316975	missense	probably benign	0.06
R8960:Dnm1	UTSW	2	32312729	missense	probably damaging	1.00
R9476:Dnm1	UTSW	2	32323727	missense	probably benign	0.03
R9510:Dnm1	UTSW	2	32323727	missense	probably benign	0.03
R9535:Dnm1	UTSW	2	32312332	missense	probably benign	0.00
R9566:Dnm1	UTSW	2	32337999	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CATCAAACTCCATCTGTGGTGAAC -3'
(R):5'- CAAGAACTTCCGACCGGATG -3'

Sequencing Primer
(F):5'- CAGACGGGGATGGGTCAGC -3'
(R):5'- AAGGCCCTGCTGCAGTAAG -3'

Posted On

2015-09-24