Mutagenetix > Incidental Mutation

Incidental Mutation 'R4432:Dnm3'

328639

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

9630020E24Rik, B230343F03Rik

MMRRC Submission

041701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161810022-162305603 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 161819566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070330] [ENSMUST00000086074] [ENSMUST00000159763]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070330

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265

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 benign
Transcript: ENSMUST00000086074

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265

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

probably benign
Transcript: ENSMUST00000159763

SMART Domains

Protein: ENSMUSP00000125356
Gene: ENSMUSG00000040265

Domain	Start	End	E-Value	Type
PH	1	94	5.13e-2	SMART
GED	115	206	6.82e-33	SMART
low complexity region	209	222	N/A	INTRINSIC
low complexity region	227	242	N/A	INTRINSIC
low complexity region	270	283	N/A	INTRINSIC
low complexity region	295	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193110

Coding Region Coverage

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

Validation Efficiency

100% (42/42)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,132,414 (GRCm39)	M294V	probably benign	Het
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm4	A	C	7: 119,310,610 (GRCm39)	E499A	probably damaging	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Anks6	G	A	4: 47,044,905 (GRCm39)	Q334*	probably null	Het
Cadps2	T	A	6: 23,626,737 (GRCm39)	I155L	probably damaging	Het
Casp4	G	A	9: 5,323,653 (GRCm39)	R74H	probably damaging	Het
Cdk14	A	G	5: 5,086,427 (GRCm39)	W298R	probably damaging	Het
Chia1	A	G	3: 106,022,641 (GRCm39)	N12D	probably benign	Het
Cibar2	C	A	8: 120,901,594 (GRCm39)	R37L	probably damaging	Het
Cyp3a59	A	G	5: 146,041,596 (GRCm39)	D380G	probably benign	Het
Dnm2	T	C	9: 21,402,600 (GRCm39)		probably benign	Het
Dpp4	A	G	2: 62,175,456 (GRCm39)	Y660H	probably damaging	Het
H6pd	T	G	4: 150,080,215 (GRCm39)	Y202S	probably damaging	Het
Hnrnpa0	T	C	13: 58,275,751 (GRCm39)	K126R	probably benign	Het
Insc	C	T	7: 114,368,290 (GRCm39)		probably benign	Het
Lrrc45	G	A	11: 120,606,047 (GRCm39)		probably null	Het
Mapkap1	T	C	2: 34,509,875 (GRCm39)	L263P	probably damaging	Het
Nmur1	A	G	1: 86,315,287 (GRCm39)	S160P	probably damaging	Het
Or4a81	A	T	2: 89,619,078 (GRCm39)	M206K	possibly damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcid2	T	C	8: 13,135,421 (GRCm39)	D196G	probably damaging	Het
Pcolce2	T	C	9: 95,563,610 (GRCm39)	F199L	probably damaging	Het
Phf11c	A	T	14: 59,628,384 (GRCm39)	N88K	possibly damaging	Het
Prl8a8	T	A	13: 27,694,463 (GRCm39)	Y109F	probably benign	Het
Rasa2	A	G	9: 96,424,460 (GRCm39)		probably benign	Het
Samhd1	T	C	2: 156,946,813 (GRCm39)	D558G	probably damaging	Het
Slc1a1	T	C	19: 28,880,109 (GRCm39)	F263S	probably benign	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc4a7	T	A	14: 14,757,323 (GRCm38)	N520K	probably damaging	Het
Szt2	A	G	4: 118,241,428 (GRCm39)	S1679P	probably damaging	Het
Trmt9b	A	T	8: 36,965,632 (GRCm39)	I51F	probably damaging	Het
Vmn1r218	T	C	13: 23,321,412 (GRCm39)	F173S	possibly damaging	Het
Vmn2r32	T	A	7: 7,482,918 (GRCm39)	N19Y	probably damaging	Het

Other mutations in Dnm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Dnm3	APN	1	161,839,495 (GRCm39)	missense	probably damaging	1.00
IGL02444:Dnm3	APN	1	161,838,444 (GRCm39)	missense	possibly damaging	0.46
IGL02481:Dnm3	APN	1	161,838,471 (GRCm39)	missense	probably damaging	0.99
IGL02623:Dnm3	APN	1	162,183,001 (GRCm39)	missense	probably damaging	0.99
IGL03132:Dnm3	APN	1	161,838,674 (GRCm39)	critical splice acceptor site	probably null
IGL03330:Dnm3	APN	1	162,148,560 (GRCm39)	missense	probably benign	0.00
fever	UTSW	1	162,148,696 (GRCm39)	splice site	probably null
nobel	UTSW	1	162,305,274 (GRCm39)	missense	probably damaging	1.00
splotare	UTSW	1	162,148,556 (GRCm39)	missense	probably damaging	0.98
LCD18:Dnm3	UTSW	1	162,234,130 (GRCm39)	intron	probably benign
R0066:Dnm3	UTSW	1	162,234,930 (GRCm39)	missense	probably damaging	0.98
R0066:Dnm3	UTSW	1	162,234,930 (GRCm39)	missense	probably damaging	0.98
R0240:Dnm3	UTSW	1	162,181,194 (GRCm39)	missense	probably benign	0.00
R0240:Dnm3	UTSW	1	162,181,194 (GRCm39)	missense	probably benign	0.00
R0968:Dnm3	UTSW	1	161,847,388 (GRCm39)	splice site	probably benign
R1161:Dnm3	UTSW	1	162,181,143 (GRCm39)	missense	probably benign	0.06
R1680:Dnm3	UTSW	1	161,838,545 (GRCm39)	missense	probably benign	0.12
R1747:Dnm3	UTSW	1	162,141,153 (GRCm39)	missense	probably damaging	1.00
R1881:Dnm3	UTSW	1	162,305,517 (GRCm39)	start gained	probably benign
R1997:Dnm3	UTSW	1	162,181,281 (GRCm39)	missense	possibly damaging	0.60
R2157:Dnm3	UTSW	1	162,135,462 (GRCm39)	missense	possibly damaging	0.95
R2270:Dnm3	UTSW	1	162,305,358 (GRCm39)	missense	probably damaging	1.00
R2897:Dnm3	UTSW	1	162,113,643 (GRCm39)	splice site	probably benign
R3018:Dnm3	UTSW	1	162,149,328 (GRCm39)	nonsense	probably null
R3851:Dnm3	UTSW	1	162,148,696 (GRCm39)	splice site	probably null
R3861:Dnm3	UTSW	1	162,138,974 (GRCm39)	missense	possibly damaging	0.79
R3930:Dnm3	UTSW	1	161,911,699 (GRCm39)	missense	probably damaging	1.00
R5318:Dnm3	UTSW	1	161,839,376 (GRCm39)	nonsense	probably null
R5361:Dnm3	UTSW	1	161,838,471 (GRCm39)	missense	probably damaging	0.99
R5606:Dnm3	UTSW	1	162,113,587 (GRCm39)	missense	probably damaging	0.99
R5783:Dnm3	UTSW	1	162,183,040 (GRCm39)	missense	possibly damaging	0.70
R6019:Dnm3	UTSW	1	161,962,070 (GRCm39)	missense	probably damaging	0.99
R6072:Dnm3	UTSW	1	161,838,637 (GRCm39)	small deletion	probably benign
R6086:Dnm3	UTSW	1	162,148,602 (GRCm39)	missense	probably damaging	0.99
R6110:Dnm3	UTSW	1	161,838,637 (GRCm39)	small deletion	probably benign
R6158:Dnm3	UTSW	1	162,148,556 (GRCm39)	missense	probably damaging	0.98
R6473:Dnm3	UTSW	1	162,305,274 (GRCm39)	missense	probably damaging	1.00
R6499:Dnm3	UTSW	1	162,141,164 (GRCm39)	missense	probably damaging	1.00
R6702:Dnm3	UTSW	1	162,146,256 (GRCm39)	missense	probably benign	0.04
R6703:Dnm3	UTSW	1	162,146,256 (GRCm39)	missense	probably benign	0.04
R6739:Dnm3	UTSW	1	162,305,352 (GRCm39)	missense	probably damaging	0.99
R6811:Dnm3	UTSW	1	162,148,652 (GRCm39)	missense	probably damaging	0.96
R6915:Dnm3	UTSW	1	162,145,966 (GRCm39)	splice site	probably null
R6946:Dnm3	UTSW	1	162,141,224 (GRCm39)	missense	possibly damaging	0.91
R7062:Dnm3	UTSW	1	161,962,060 (GRCm39)	nonsense	probably null
R7067:Dnm3	UTSW	1	162,148,540 (GRCm39)	missense	probably damaging	1.00
R7071:Dnm3	UTSW	1	161,847,412 (GRCm39)	missense	probably damaging	0.99
R7468:Dnm3	UTSW	1	162,149,198 (GRCm39)	splice site	probably null
R7521:Dnm3	UTSW	1	161,962,113 (GRCm39)	missense	probably damaging	1.00
R7583:Dnm3	UTSW	1	162,305,343 (GRCm39)	missense	possibly damaging	0.93
R7667:Dnm3	UTSW	1	161,839,399 (GRCm39)	missense	probably damaging	1.00
R7711:Dnm3	UTSW	1	161,819,622 (GRCm39)	missense	possibly damaging	0.83
R7837:Dnm3	UTSW	1	161,819,619 (GRCm39)	missense	possibly damaging	0.94
R7838:Dnm3	UTSW	1	161,819,619 (GRCm39)	missense	possibly damaging	0.94
R7900:Dnm3	UTSW	1	162,182,940 (GRCm39)	missense	probably benign	0.00
R7939:Dnm3	UTSW	1	162,123,165 (GRCm39)	missense	possibly damaging	0.91
R8059:Dnm3	UTSW	1	161,911,708 (GRCm39)	missense	probably damaging	1.00
R8123:Dnm3	UTSW	1	161,838,672 (GRCm39)	missense	probably benign	0.01
R8246:Dnm3	UTSW	1	162,135,486 (GRCm39)	missense	probably damaging	1.00
R8249:Dnm3	UTSW	1	162,305,312 (GRCm39)	nonsense	probably null
R8511:Dnm3	UTSW	1	162,113,611 (GRCm39)	missense	possibly damaging	0.69
R8900:Dnm3	UTSW	1	162,135,445 (GRCm39)	missense	probably benign	0.17
R8976:Dnm3	UTSW	1	162,135,505 (GRCm39)	missense	probably damaging	1.00
R9455:Dnm3	UTSW	1	162,148,524 (GRCm39)	missense	possibly damaging	0.88
R9604:Dnm3	UTSW	1	161,838,584 (GRCm39)	missense	possibly damaging	0.55
R9617:Dnm3	UTSW	1	162,149,354 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTGTATAAAACTACCTTGG -3'
(R):5'- GCATGGTGGCTCTATGTCAG -3'

Sequencing Primer
(F):5'- TAAGCCTCTCTACAGGTTAGCAGG -3'
(R):5'- CAGTGTTCTGAAGAGACAACTACTGC -3'

Posted On

2015-07-21