Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Dnm3'

489673

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

B230343F03Rik, 9630020E24Rik

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

161982453-162478034 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162320987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 272 (M272V)

Ref Sequence

ENSEMBL: ENSMUSP00000083241 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070330
AA Change: M272V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: M272V

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: M272V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: M272V

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: ENSMUST00000160695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161155

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	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
R2270:Dnm3	UTSW	1	162477789	missense	probably damaging	1.00
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
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
R9604:Dnm3	UTSW	1	162011015	missense	possibly damaging	0.55
R9617:Dnm3	UTSW	1	162321785	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTTCCTAAATCGGAGTGTG -3'
(R):5'- CAGGAAGTGTGCCAAATCCC -3'

Sequencing Primer
(F):5'- GTGGTCTAAATAATGGTAAATGGCC -3'
(R):5'- GCCAAATCCCATGGGTTTG -3'

Posted On

2017-10-10