Mutagenetix > Incidental Mutation

Incidental Mutation 'R3018:Dnm3'

257681

Institutional Source

Beutler Lab

Gene Symbol

Dnm3

Ensembl Gene

ENSMUSG00000040265

Gene Name

dynamin 3

Synonyms

9630020E24Rik, B230343F03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3018 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

161810022-162305603 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 162149328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 206 (K206*)

Ref Sequence

ENSEMBL: ENSMUSP00000083241 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000070330
AA Change: K206*

SMART Domains

Protein: ENSMUSP00000064538
Gene: ENSMUSG00000040265
AA Change: K206*

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 null
Transcript: ENSMUST00000086074
AA Change: K206*

SMART Domains

Protein: ENSMUSP00000083241
Gene: ENSMUSG00000040265
AA Change: K206*

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: ENSMUST00000161155

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,676,853 (GRCm39)	V126A	probably benign	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Grxcr1	C	T	5: 68,267,860 (GRCm39)	S203F	probably damaging	Het
Matn3	A	T	12: 9,013,578 (GRCm39)	D420V	probably benign	Het
Mlf2	G	T	6: 124,909,467 (GRCm39)	M48I	probably benign	Het
Moxd2	T	A	6: 40,855,820 (GRCm39)	T590S	probably benign	Het
Myh2	A	G	11: 67,070,410 (GRCm39)	D451G	possibly damaging	Het
Neurod4	T	C	10: 130,106,824 (GRCm39)	E150G	probably damaging	Het
Nynrin	A	T	14: 56,100,867 (GRCm39)	E219V	probably benign	Het
Rad51ap1	T	C	6: 126,916,485 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,559,761 (GRCm39)	F11L	possibly damaging	Het
Serinc5	T	C	13: 92,825,189 (GRCm39)	M206T	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Tnk1	C	T	11: 69,745,737 (GRCm39)		probably benign	Het
Trim41	G	T	11: 48,698,521 (GRCm39)	R482S	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,814 (GRCm39)	T1410I	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
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
R4432:Dnm3	UTSW	1	161,819,566 (GRCm39)	intron	probably benign
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'- ACAACACTTGGGAGCAGTG -3'
(R):5'- ACTGCAAGCCAAGAGAGCTG -3'

Sequencing Primer
(F):5'- GAGCAGTGTGCCATTCCATATAAAG -3'
(R):5'- CCAAGAGAGCTGCAGAGAAACC -3'

Posted On

2015-01-11