Mutagenetix > Incidental Mutations

Incidental Mutation 'R2270:Dnm3'

242368

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

B230343F03Rik, 9630020E24Rik

MMRRC Submission

040270-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2270 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

161982453-162478034 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 162477789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 12 (L12Q)

Ref Sequence

ENSEMBL: ENSMUSP00000083241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070330] [ENSMUST00000086074]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070330
AA Change: L12Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: L12Q

Domain	Start	End	E-Value	Type
DYNc	6	245	1.48e-182	SMART
PH	516	623	1.58e-11	SMART
GED	644	735	6.82e-33	SMART
low complexity region	738	751	N/A	INTRINSIC
low complexity region	756	771	N/A	INTRINSIC
low complexity region	799	812	N/A	INTRINSIC
low complexity region	824	852	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086074
AA Change: L12Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: L12Q

Domain	Start	End	E-Value	Type
DYNc	6	245	1.48e-182	SMART
PH	516	623	1.58e-11	SMART
GED	648	739	6.82e-33	SMART
low complexity region	742	755	N/A	INTRINSIC
low complexity region	760	775	N/A	INTRINSIC
low complexity region	803	816	N/A	INTRINSIC
low complexity region	828	856	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161155

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,077,431	R54W	possibly damaging	Het
Adam22	T	C	5: 8,121,108	E614G	probably damaging	Het
Ap4e1	T	C	2: 127,047,163		probably null	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Arntl2	T	C	6: 146,822,114	F314S	probably damaging	Het
Atp11b	A	G	3: 35,810,134		probably null	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Chat	T	C	14: 32,454,581	R79G	probably damaging	Het
Chek1	A	G	9: 36,719,686	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Crip2	A	C	12: 113,144,866	K62N	probably damaging	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Eftud2	T	C	11: 102,864,781	N200S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgfbp1	T	A	5: 43,979,330	M207L	probably benign	Het
Fry	A	G	5: 150,400,924	I1151V	probably null	Het
Garem2	T	G	5: 30,116,974	L777R	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gpr143	T	A	X: 152,790,570	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,003,462	I498V	probably null	Het
Ipo4	A	G	14: 55,634,100	L168P	probably damaging	Het
Ism1	T	A	2: 139,757,373	I415N	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mre11a	A	G	9: 14,815,174	E411G	probably benign	Het
Mybpc1	C	A	10: 88,551,407	V106F	probably benign	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,644,305	N352K	probably benign	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,037,955	V515A	probably benign	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Olfm4	C	A	14: 80,011,875	T144K	probably damaging	Het
Olfr741	G	T	14: 50,486,037	C193F	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pes1	C	A	11: 3,969,524	L66I	probably damaging	Het
Phf12	G	T	11: 77,984,175	A76S	possibly damaging	Het
Plb1	G	T	5: 32,293,242	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prkg1	A	G	19: 30,578,631	V610A	probably benign	Het
Prrc2a	T	C	17: 35,149,536	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Ranbp2	T	C	10: 58,455,927	V252A	probably benign	Het
Rcn3	A	G	7: 45,088,651	S98P	probably damaging	Het
Rere	T	C	4: 150,477,380	S248P	unknown	Het
Rnaseh2a	T	C	8: 84,965,419	E75G	probably benign	Het
Slc15a1	A	T	14: 121,479,994	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,735,994	L14R	probably damaging	Het
Slfn2	C	T	11: 83,069,935	R247C	probably damaging	Het
Ttn	T	C	2: 76,948,364	I1218M	probably damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Yme1l1	T	C	2: 23,175,220	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,332,147	M1478T	probably benign	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Znhit2	A	G	19: 6,061,231	E2G	probably damaging	Het
Zpbp	A	T	11: 11,418,272	M133K	probably benign	Het

Other mutations in Dnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Dnm3	APN	1	162011926	missense	probably damaging	1.00
IGL02444:Dnm3	APN	1	162010875	missense	possibly damaging	0.46
IGL02481:Dnm3	APN	1	162010902	missense	probably damaging	0.99
IGL02623:Dnm3	APN	1	162355432	missense	probably damaging	0.99
IGL03132:Dnm3	APN	1	162011105	critical splice acceptor site	probably null
IGL03330:Dnm3	APN	1	162320991	missense	probably benign	0.00
fever	UTSW	1	162321127	splice site	probably null
nobel	UTSW	1	162477705	missense	probably damaging	1.00
splotare	UTSW	1	162320987	missense	probably damaging	0.98
LCD18:Dnm3	UTSW	1	162406561	intron	probably benign
R0066:Dnm3	UTSW	1	162407361	missense	probably damaging	0.98
R0066:Dnm3	UTSW	1	162407361	missense	probably damaging	0.98
R0240:Dnm3	UTSW	1	162353625	missense	probably benign	0.00
R0240:Dnm3	UTSW	1	162353625	missense	probably benign	0.00
R0968:Dnm3	UTSW	1	162019819	splice site	probably benign
R1161:Dnm3	UTSW	1	162353574	missense	probably benign	0.06
R1680:Dnm3	UTSW	1	162010976	missense	probably benign	0.12
R1747:Dnm3	UTSW	1	162313584	missense	probably damaging	1.00
R1881:Dnm3	UTSW	1	162477948	start gained	probably benign
R1997:Dnm3	UTSW	1	162353712	missense	possibly damaging	0.60
R2157:Dnm3	UTSW	1	162307893	missense	possibly damaging	0.95
R2897:Dnm3	UTSW	1	162286074	splice site	probably benign
R3018:Dnm3	UTSW	1	162321759	nonsense	probably null
R3851:Dnm3	UTSW	1	162321127	splice site	probably null
R3861:Dnm3	UTSW	1	162311405	missense	possibly damaging	0.79
R3930:Dnm3	UTSW	1	162084130	missense	probably damaging	1.00
R4432:Dnm3	UTSW	1	161991997	intron	probably benign
R5318:Dnm3	UTSW	1	162011807	nonsense	probably null
R5361:Dnm3	UTSW	1	162010902	missense	probably damaging	0.99
R5606:Dnm3	UTSW	1	162286018	missense	probably damaging	0.99
R5783:Dnm3	UTSW	1	162355471	missense	possibly damaging	0.70
R6019:Dnm3	UTSW	1	162134501	missense	probably damaging	0.99
R6072:Dnm3	UTSW	1	162011068	small deletion	probably benign
R6086:Dnm3	UTSW	1	162321033	missense	probably damaging	0.99
R6110:Dnm3	UTSW	1	162011068	small deletion	probably benign
R6158:Dnm3	UTSW	1	162320987	missense	probably damaging	0.98
R6473:Dnm3	UTSW	1	162477705	missense	probably damaging	1.00
R6499:Dnm3	UTSW	1	162313595	missense	probably damaging	1.00
R6702:Dnm3	UTSW	1	162318687	missense	probably benign	0.04
R6703:Dnm3	UTSW	1	162318687	missense	probably benign	0.04
R6739:Dnm3	UTSW	1	162477783	missense	probably damaging	0.99
R6811:Dnm3	UTSW	1	162321083	missense	probably damaging	0.96
R6915:Dnm3	UTSW	1	162318397	splice site	probably null
R6946:Dnm3	UTSW	1	162313655	missense	possibly damaging	0.91
R7062:Dnm3	UTSW	1	162134491	nonsense	probably null
R7067:Dnm3	UTSW	1	162320971	missense	probably damaging	1.00
R7071:Dnm3	UTSW	1	162019843	missense	probably damaging	0.99
R7468:Dnm3	UTSW	1	162321629	splice site	probably null
R7521:Dnm3	UTSW	1	162134544	missense	probably damaging	1.00
R7583:Dnm3	UTSW	1	162477774	missense	possibly damaging	0.93
R7667:Dnm3	UTSW	1	162011830	missense	probably damaging	1.00
R7711:Dnm3	UTSW	1	161992053	missense	possibly damaging	0.83
R7837:Dnm3	UTSW	1	161992050	missense	possibly damaging	0.94
R7838:Dnm3	UTSW	1	161992050	missense	possibly damaging	0.94
R7900:Dnm3	UTSW	1	162355371	missense	probably benign	0.00
R7939:Dnm3	UTSW	1	162295596	missense	possibly damaging	0.91
R8059:Dnm3	UTSW	1	162084139	missense	probably damaging	1.00
R8123:Dnm3	UTSW	1	162011103	missense	probably benign	0.01
R8246:Dnm3	UTSW	1	162307917	missense	probably damaging	1.00
R8249:Dnm3	UTSW	1	162477743	nonsense	probably null
R8511:Dnm3	UTSW	1	162286042	missense	possibly damaging	0.69
R8900:Dnm3	UTSW	1	162307876	missense	probably benign	0.17
R8976:Dnm3	UTSW	1	162307936	missense	probably damaging	1.00
R9455:Dnm3	UTSW	1	162320955	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TTCCATGTTCCAACGGCCTG -3'
(R):5'- AGCTGTCAGGATCCTAGCAGTG -3'

Sequencing Primer
(F):5'- GTTCCAACGGCCTGAAGCAC -3'
(R):5'- ATCCTAGCAGTGGGAGGC -3'

Posted On

2014-10-16