Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Dnm1'

59522

Institutional Source

Beutler Lab

Gene Symbol

Dnm1

Ensembl Gene

ENSMUSG00000026825

Gene Name

dynamin 1

Synonyms

dynamin 1, Ftfl

MMRRC Submission

038480-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0242 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32308471-32353338 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32316989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 535 (M535L)

Ref Sequence

ENSEMBL: ENSMUSP00000144145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000091089] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000129156] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000201494] [ENSMUST00000202578] [ENSMUST00000201440]

AlphaFold

P39053

Predicted Effect

probably benign
Transcript: ENSMUST00000078352
AA Change: M564L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: M564L

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 benign
Transcript: ENSMUST00000091089
AA Change: M560L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: M560L

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 benign
Transcript: ENSMUST00000113350
AA Change: M564L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: M564L

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 benign
Transcript: ENSMUST00000113352
AA Change: M564L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: M564L

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 benign
Transcript: ENSMUST00000113365
AA Change: M564L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: M564L

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: ENSMUST00000129156
AA Change: M33L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825
AA Change: M33L

Domain	Start	End	E-Value	Type
PH	1	96	2.75e-2	SMART
GED	123	214	9.51e-32	SMART
low complexity region	216	230	N/A	INTRINSIC
low complexity region	239	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139291

SMART Domains

Protein: ENSMUSP00000115523
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
Pfam:GED	1	43	3.3e-7	PFAM
low complexity region	45	59	N/A	INTRINSIC
low complexity region	81	114	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139624
AA Change: M564L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: M564L

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

noncoding transcript
Transcript: ENSMUST00000141633

Predicted Effect

probably benign
Transcript: ENSMUST00000155269

SMART Domains

Protein: ENSMUSP00000116054
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
GED	1	53	1.63e-1	SMART
low complexity region	55	69	N/A	INTRINSIC
low complexity region	91	124	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175066

Predicted Effect

probably benign
Transcript: ENSMUST00000201433
AA Change: M564L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: M564L

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: M535L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: M535L

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 benign
Transcript: ENSMUST00000202578
AA Change: M564L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: M564L

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 benign
Transcript: ENSMUST00000201440

SMART Domains

Protein: ENSMUSP00000144309
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
Pfam:GED	1	41	5.9e-7	PFAM
low complexity region	43	57	N/A	INTRINSIC
low complexity region	66	85	N/A	INTRINSIC

Meta Mutation Damage Score

0.0791

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (110/113)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,676	D230G	probably benign	Het
4930435E12Rik	C	T	16: 38,824,567		probably benign	Het
Abhd13	A	G	8: 9,987,561	I53V	probably benign	Het
Adgrl2	A	C	3: 148,839,185		probably null	Het
Aldh16a1	G	A	7: 45,144,664	A596V	probably damaging	Het
Aldh3b2	T	A	19: 3,979,414	Y262*	probably null	Het
Ambn	A	G	5: 88,467,972	Q420R	possibly damaging	Het
Ankib1	A	C	5: 3,700,344		probably benign	Het
Arhgap9	C	A	10: 127,329,538	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,184,064	G435E	probably damaging	Het
Armc12	A	T	17: 28,532,392	D120V	possibly damaging	Het
Armc4	A	T	18: 7,211,516	V786D	probably damaging	Het
Asxl3	G	A	18: 22,516,681	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,895	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,840,676	T483M	probably damaging	Het
Caprin2	C	T	6: 148,842,954	S991N	probably damaging	Het
Cd96	T	C	16: 46,071,766	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,180,172	F480L	probably benign	Het
Celf5	T	C	10: 81,464,409	T258A	probably benign	Het
Cgnl1	A	G	9: 71,721,657	V577A	probably damaging	Het
Clca3b	A	G	3: 144,841,465	S304P	probably benign	Het
Cmya5	A	T	13: 93,095,600	H993Q	probably benign	Het
Cnbp	A	T	6: 87,845,764	C6S	probably damaging	Het
Col14a1	C	T	15: 55,497,511	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,964,854	N11S	probably benign	Het
Coro7	T	C	16: 4,630,178		probably benign	Het
Cpvl	T	C	6: 53,932,500	H217R	possibly damaging	Het
Cuedc1	T	C	11: 88,184,621		probably benign	Het
Cyp2c66	A	G	19: 39,141,925	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,702,451	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,727,562	D268G	probably benign	Het
Dock7	A	T	4: 98,962,280	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,398,546	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,649,851	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,657,935	E21G	probably null	Het
Fam120b	T	A	17: 15,422,924	V655D	probably damaging	Het
Fam129a	A	G	1: 151,718,216	D884G	probably benign	Het
Fkbp5	A	T	17: 28,428,452	D136E	probably benign	Het
Gdap1l1	T	A	2: 163,447,653	Y179*	probably null	Het
Gfer	A	G	17: 24,694,303	W192R	probably damaging	Het
Gm4782	A	G	6: 50,609,858	T408A	probably benign	Het
Golgb1	C	T	16: 36,875,630	Q164*	probably null	Het
Gpnmb	A	G	6: 49,047,342	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,003,802	T414M	probably benign	Het
Hc	A	G	2: 35,036,154		probably benign	Het
Hcfc1	A	T	X: 73,948,429		probably benign	Het
Helz2	C	T	2: 181,230,430	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 94,157,815	I19F	probably benign	Het
Incenp	T	C	19: 9,893,750	T172A	unknown	Het
Jmy	A	G	13: 93,441,618	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,027,508	T36A	probably benign	Het
Kcnh4	T	C	11: 100,755,699	D267G	probably damaging	Het
Krt34	C	T	11: 100,041,331	E56K	probably damaging	Het
Krt40	T	A	11: 99,538,742	E335D	probably damaging	Het
Krt86	T	A	15: 101,476,573	Y282*	probably null	Het
Lgi3	C	T	14: 70,534,815	R267*	probably null	Het
Lnpk	A	G	2: 74,537,289		probably benign	Het
Lrp1b	T	A	2: 40,998,183	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,235,401	R542H	probably benign	Het
Mia2	T	C	12: 59,108,856	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,704,541	R132Q	probably damaging	Het
Mtbp	T	A	15: 55,577,486	N356K	possibly damaging	Het
Mum1	T	C	10: 80,234,258	S354P	probably benign	Het
Myo5b	A	G	18: 74,661,716	H552R	possibly damaging	Het
Noxred1	A	G	12: 87,226,979	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933	D390V	possibly damaging	Het
Oas1e	A	T	5: 120,791,774		probably benign	Het
Olfr398	T	C	11: 73,983,712	S299G	probably benign	Het
Olfr786	T	A	10: 129,437,348	Y179N	probably damaging	Het
Otog	G	T	7: 46,267,381	C914F	probably damaging	Het
Pank2	G	T	2: 131,280,197	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,266,735	S580T	probably benign	Het
Pdia3	T	C	2: 121,414,111	S2P	probably damaging	Het
Peli1	G	T	11: 21,142,602	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,491,935	C366*	probably null	Het
Pon3	T	A	6: 5,240,860	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,741,091	C532R	probably damaging	Het
Prph	A	T	15: 99,055,727	D174V	probably damaging	Het
Psd3	A	G	8: 67,758,086	M270T	probably damaging	Het
Pum3	A	G	19: 27,422,755		probably benign	Het
Pus1	A	T	5: 110,779,798	H30Q	probably benign	Het
Rab7	A	T	6: 88,005,132	V87E	probably damaging	Het
Rbm5	A	T	9: 107,751,708		probably benign	Het
Reln	A	G	5: 21,942,597		probably null	Het
S1pr3	A	G	13: 51,418,902	T40A	probably benign	Het
Sdk1	T	A	5: 142,143,922		probably benign	Het
Senp7	T	A	16: 56,179,521	I853N	probably damaging	Het
Serpinb6c	T	A	13: 33,899,247		probably benign	Het
Shroom1	T	G	11: 53,465,485		probably null	Het
Slc24a3	T	C	2: 145,606,664	I376T	probably benign	Het
Slc46a1	T	C	11: 78,468,667	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,533,680	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,541,233	I924N	probably damaging	Het
Slx4	T	A	16: 3,986,952	E666V	probably damaging	Het
Snrnp27	G	A	6: 86,675,593		probably benign	Het
Sorcs1	C	T	19: 50,228,221	G640E	probably damaging	Het
Sptan1	A	T	2: 30,018,401	M1725L	probably benign	Het
Sync	G	A	4: 129,293,721	R182K	probably damaging	Het
Syne2	G	A	12: 76,098,034	G1586S	probably damaging	Het
Sytl1	G	T	4: 133,253,457	T522K	probably damaging	Het
Tex2	T	A	11: 106,519,955	K414*	probably null	Het
Thegl	G	T	5: 77,016,305	E52*	probably null	Het
Thsd7a	G	A	6: 12,503,916	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,637,935	A451T	possibly damaging	Het
Ttn	A	T	2: 76,826,152		probably benign	Het
Uba2	T	C	7: 34,154,629	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,390,118	G361*	probably null	Het
Wbp2nl	C	T	15: 82,313,787	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,862,566	E212G	probably damaging	Het
Zc3h7b	T	C	15: 81,768,830		probably benign	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
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
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'- TGCACCCATTCTCTACACAGCAGG -3'
(R):5'- GTGGCATATATACAGGGCTGCTCG -3'

Sequencing Primer
(F):5'- TTCTCTACACAGCAGGCAATGG -3'
(R):5'- TGATATCCAGATGGGGCCG -3'

Posted On

2013-07-11