Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Dnm1'

54373

Institutional Source

Beutler Lab

Gene Symbol

Dnm1

Ensembl Gene

ENSMUSG00000026825

Gene Name

dynamin 1

Synonyms

dynamin 1, Ftfl

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

140

Status

Not validated

Chromosome

Chromosomal Location

32308471-32353338 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32335824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 383 (E383G)

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

possibly damaging
Transcript: ENSMUST00000078352
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000091089
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000113350
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000113352
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000113365
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000139624
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000201433
AA Change: E383G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000201494
AA Change: E383G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: E383G

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

possibly damaging
Transcript: ENSMUST00000202578
AA Change: E383G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: E383G

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	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
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
R4592:Dnm1	UTSW	2	32336011	missense	probably damaging	0.99
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
R9648:Dnm1	UTSW	2	32340443	missense	probably damaging	1.00
R9785:Dnm1	UTSW	2	32333077	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- GCCTGTTGTTTGAGGAGCCAGAAAG -3'
(R):5'- AGTGGACTTCGAGAAGCGCATC -3'

Sequencing Primer
(F):5'- TTTGAGGAGCCAGAAAGTTGGG -3'
(R):5'- TGACACTTACGAGCTGTCAG -3'

Posted On

2013-07-11